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Luciano Merlini

Professore a contratto

Dipartimento di Scienze Biomediche e Neuromotorie

Pubblicazioni

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Pubblicazioni antecedenti il 2004

  1. De Lutterotti A, Mezzena R, Cardinale N, Merlini L. Il riflessogramma achilleo: valori di 369 giovani donne sane. Minerva Medica, 61(85), 4771-4776, 1970.
  2. Merlini L, Gualtieri I, Gualtieri G. Artogriposi multipla congenita. Rilievi clinici ed elettromiografici. La Chirurgia degli Organi di Movimento, 62 (3), 347-350, 1975.
  3. Arlecchini S, Costa Claudio M, Maggi G, Merlini L. A proposito di un caso di paralisi isolata del gran dentato. La Chirurgia degli Organi di Movimento, 63 (1), 49-53, 1976.
  4. Arlecchini S, Gualtieri G, Gualtieri I, Maggi G, Merlini L. Contributo allo studio delle cisti epidermoidi intraspinali. La Chirurgia degli Organi di Movimento, 63 (3), 213-218, 1976.
  5. Merlini L, Gualtieri G, Arlecchini S, Gualtieri I. Paralisi isolata del nervo accessorio spinale ad insorgenza spontanea. Studio clinico ed elettromiografico di 2 casi. La Chirurgia degli Organi di Movimento, 63 (3), 245-248, 1976.
  6. Merlini L, Granata C, Arlecchini S, Gusella A, Montefusco E. La paralisi del gran dentato (a proposito di 7 casi). La Chirurgia degli Organi di Movimento, 63 (4), 361-364, 1977.
  7. Gualtieri G, Merlini L, Pellacci F. La sindrome del nervo interosseo anteriore (descrizione di un caso). La Chirurgia degli Organi di Movimento, 63 (6), 657-661, 1977.
  8. Bachiocco R, Merlini L, Pellacci F. Aracnoidite postmielografica (comunicazione di un caso). La Chirurgia degli Organi di Movimento, 63 (6), 651-655, 1977.
  9. Donati U, Merlini L. Congenital insensitivity to pain (Case Report). Italian Journal of Orthopaedics and Traumatology, 3 (1), 127-131, 1977.
  10. Donati U, Merlini L. Insensibilità congenita al dolore (Presentazione di un caso clinico). Giornale Italiano di Ortopedia e Traumatologia, 3 (1), 131-135, 1977.
  11. Gualtieri G, Padovani G, Capelli A, Merlini L. Su di un caso di neuroma dello sciatico. La Chirurgia degli Organi di Movimento, 64 (2), 245-247, 1978.
  12. Catizone L, Merlini L, Fusaroli M. La neuropatia periferica dell'uremico in emodialisi periodica: risposta clinica ed elettrofisiologica al trattamento con gangliosidi di corteccia cerebrale. Rivista di Neurobiologia, 24(1/2), 43-56, 1978.
  13. Catizone L, Merlini L, Fusaroli M. La neuropatia periferica dell'uremico in emodialisi periodica: risposta clinica ed elettrofisiologica al trattamento con gangliosidi di corteccia cerebrale. La Clinica Terapeutica, 85(4), 395-408, 1978.
  14. Arlecchini S, Catanzariti G, Cesari F, Merlini L. Paralisi isolata del nervo interosseo da corpi mobili endoarticolari. La Chirurgia degli Organi di Movimento, 64 (3), 295-299, 1978.
  15. Costa C, Gualtieri G, Merlini L. Rilievi elettromiografici nel piede torto congenito. La Chirurgia degli Organi di Movimento, 64(4), 415-417, 1978
  16. Capelli A, Merlini L, Gualtieri I, Bazzocchi P, Gualdrini G. Saccoradicolografia ed ernie del disco lombari. La Chirurgia degli Organi di Movimento, 65 (2), 203-207, 1979.
  17. Merlini L, Gualtieri I, Pellacci F, Capelli A. Sindrome da "intrappolamento" del nervo interosseo anteriore. Descrizione di 2 casi. Rivista di Neurobiologia, 25 (3), 325-331, 1979.
  18. Gui L, Merlini L, Savini R. L'intervento di emilaminectomia allargata nel trattamento della mielopatia cervicale. Rivista di Neurobiologia, 25 (4), 457-467, 1979.
  19. Merlini L, Donati U. Autoimmunità e malattia discale. Giornale Italiano di Ortopedia e Traumatologia, 6 (3), 419-424, 1980.
  20. Savini R, Cervellati S, Merlini L. La sindrome del rachide rigido. Progressi in Patologia Vertebrale, 2, 183-189, 1980.
  21. Calderoni P, Cervellati C, Merlini L, Bacci G. Plasmocitoma osseo solitario "non secernente" associato a poliradicoloneurite diffusa. Descrizione di 2 Casi. La Chirurgia degli Organi di Movimento, 66 (5), 441-445, 1980.
  22. Perricone G, Granata C, Merlini L. Le facilitazioni neuromuscolari propriocettive nelle paralisi di gran dentato. La Chirurgia degli Organi di Movimento, 66 (6), 775-777, 1980.
  23. Merlini L, Granata C, Cuzzocrea D. Studio EMG del riflesso bulbo-cavernoso. Rivista Italiana di EEG e Neurofisiologia Clinica, 1, 113-114, 1981.
  24. Granata C, Merlini L, Scanabissi E, Cevenini N. Aspetti clinici e riabilitativi delle atrofie muscolari prossimali infantili. Gli Ospedali della Vita, 8 (1-2), 65-71, 1981
  25. Savini R, Cervellati S, Granata C, Merlini L. La scoliosi nelle atrofie muscolari spinali infantili. Progressi in Patologia Vertebrale, 3, 169-175, 1981.
  26. Lucci B, Govoni E, Bragaglia MM, Busachi CA, Badiali De Giorgi L, Trotta F, Merlini L. Tecniche di studio della biopsia muscolare in pazienti affetti da poliomiosite. Rivista di Neurobiologia, 27 (1), 57-67, 1981.
  27. Merlini L, Granata C, Prosperi P, Prosperi L. Claudicatio e priapismo intermittente da compressione della cauda equina da stenosi lombare. Descrizione di un caso. La Chirurgia degli Organi di Movimento, 67 (2), 235-238, 1981.
  28. Granata C, Merlini L, Savini R, Cervellati S, Govoni E. Sindrome di Marfan con miopatia e rachide rigido. Progressi in Patologia Vertebrale, 4, 235-239, 1982.
  29. Savini R, Parisini P, Martucci E, Ponzo L, Merlini L. Terapia chirurgica nella scoliosi e complicazioni neurologiche. Progressi in Patologia Vertebrale, 4, 203-213, 1982.
  30. Gui L, Savini R, Martucci E, Merlini L. Diagnosis and treatment of cervical instability. Italian Journal of Orthopaedic and Traumatology, 8 (2), 131-144, 1982.
  31. Granata C, Merlini L, Parisini P, Savini R. Spinal deformity in Duchenne's muscular dystrophy. Cardiomyology, 1 (1), 117-126, 1982.
  32. Granata C, Merlini L, Savini R. La deformità vertebrale nella distrofia muscolare progressiva di Duchenne. Archivio di Ortopedia e Reumatologia, 95 (4), 333-342, 1982.
  33. Gui L, Savini R, Martucci E, Merlini L. Diagnosi e trattamento della instabilità cervicale. Giornale Italiano di Ortopedia e Traumatologia, 8 (2), 133-146, 1982.
  34. Gui L, Davidovitis P, Merlini L, Savini R. La mielopatia cervicale. Tecnica e risultati della "laminectomia laterale". Giornale Italiano di Ortopedia e Traumatologia, 9 (2), 129-138, 1983.
  35. Gui L, Merlini L, Davidovitis P, Savini R. La mielopatia da ossificazione del ligamento longitudinale posteriore. Giornale Italiano di Ortopedia e Traumatologia, 9 (3), 281-291, 1983.
  36. Gui L, Davidovitis P, Merlini L, Savini R. Cervical Myelopathy: tecnique and results of spinal cord decompression by lateral laminectomy. Italian Journal of Orthopaedics and Traumatology, 9 (2), 129-138, 1983.
  37. Gui L, Savini R, Merlini L. Cifosi con danno neurologico. Progressi in Patologia Vertebrale, 5, 253-263, 1983.
  38. Merlini L, Davidovitis P, Savini R, Gui L. La TAC nella mielopatia cervicale. Archivio di Ortopedia e Reumatologia, 96 (2), 175-179, 1983.
  39. Gui L, Merlini L, Savini R, Davidovits P. Cervical myelopathy due to ossification of the posterior longitudinal ligament. Italian Journal of Orthopaedics and Traumatology, 9 (3), 269-280, 1983.
  40. Granata C, Merlini L, Scanabissi E, Cevenini N, Govoni E, Bragaglia MM, Franzoni E. Distrofia muscolare congenita con grave ritardo mentale tipo Fukujama, descrizione di un caso clinico. Rivista Italiana di Pediatria (I. J. P.), 9, 597-600, 1983.
  41. Merlini L, Granata C, Govoni E. Miopatia congenita tipo minicore con rachide rigido. Archivio di Ortopedia e Reumatologia, 96 (4), 455-459, 1983.
  42. Granata C, Merlini L, Ponzo L, Bonfiglioli S, Govoni E, Savini R. Miopatie con scoliosi e rachide rigido. Progressi in patologia vertebrale, 6, 325-329, 1984.
  43. Granata C, Merlini L, Parisini P, Bonfiglioli S, Savini R. Il trattamento della scoliosi nella Distrofia Muscolare di Duchenne (DMD). Progressi in patologia vertebrale, 6, 317-323, 1984.
  44. Gui L, Savini R, Merlini L, Davidovits P. La stenosi cervicale. Giornale Italiano di Ortopedia e Traumatologia, Suppl. Vol. X, 205-217, 1984.
  45. Gui L, Savini R, Merlini L, Granata C, Bonfiglioli S, Mattutini P. Il trattamento chirurgico della scoliosi nella atrofia muscolare spinale: primi risultati. Archivio di Ortopedia e Reumatologia, 97, 21-27, 1984.
  46. Gui L, Savini R, Merlini L, Davidovits P. La caudopatia da stenosi lombare: inquadramento nosologico. Archivio di Ortopedia e Reumatologia, 97, 11-20, 1984.
  47. Merlini L, Granata C, Bonfiglioli S, Mattutini P. Distrofia muscolare omero-peroneale con cardiomiopatia ed ereditarietà recessiva legata al sesso (Emery-Dreifuss). Descrizione di un caso con problemi ortopedici. La Chirurgia degli Organi di Movimento, 69, (3), 291-295, 1984.
  48. Merlini L, Granata C, Bonfiglioli S, Simonetti M. Mild Myopathy, early and severe joint and spine contractures ("Rigid Spine Syndrome"), restrictive respiratory syndrome and cardiomyopathy in a female patient. Cardiomyology, 3 (1), 35-42, 1984.
  49. Dominici P, Bonfiglioli S, Merlini L, Granata C. Implicazioni cardiache nella sindrome di Emery-Dreyfuss. Cardiomyology, 3 (2/3), 47-52, 1984.
  50. Granata C, Merlini L, Bonfiglioli S, Mattutini P. Applicazione precoce di tutori per gli arti inferiori in 8 casi di atrofia muscolare spinale (forma intermedia). Cardiomyology, 3 (2/3), 53-63, 1984.
  51. Granata C, Merlini L, Rubbini L, Bonfiglioli S, Mattutini P. Tenotomia sottocutanea del tendine di Achille in anestesia locale nella distrofia muscolare di Duchenne. Cardiomyology, 3 (2/3), 89-96, 1984.
  52. Granata C, Merlini L, Savini R. Il trattamento della scoliosi nella atrofia muscolare spinale. Cardiomyology, 3 (2/3), 97-105, 1984.
  53. Gui L, Savini R, Merlini L. Kyphosis with neurological damage. Progress in Spinal Pathology, 1, 131-140, 1984.
  54. Merlini L, Granata C, Bonfiglioli S, Mattutini P. Protocollo di valutazione della atrofia muscolare spinale (AMS). Rivista Italiana di EEG e neurofisiologia clinica, 7, 59-60, 1984.
  55. Granata C, Merlini L, Bonfiglioli S, Mattutini P. Il trattamento ortesico precoce nelle atrofie muscolari spinali (AMS) per promuovere la statica e la deambulazione. Rivista Italiana di EEG e neurofisiologia clinica, 7, 57-58, 1984.
  56. Merlini L, Savini R, Cervellati S, Granata C, Bonfiglioli S. Il trattamento della scoliosi nella atrofia muscolare spinale (AMS). Rivista Italiana di EEG e neurofisiologia clinica, 7, 61-63, 1984.
  57. Corbascio M, Granata C, Merlini L, Bonfiglioli S, Savini R. Problemi anestesiologici nella chirurgia vertebrale delle atrofie muscolari spinali. Progressi in Patologia Vertebrale, 7, 229-234, 1985.
  58. Albisinni U, Merlini L, Terayama K, Ohtsuka K, Savini R. Epidemiologia radiografica delle ossificazioni dei ligamenti e della degenerazione discale del rachide cervicale. La Chirurgia deli Organi di Movimento, 70 (1), 15-22, 1985.
  59. Gui L, Merlini L, Davidovits P, Savini R. Ossification of the posterior longitudinal ligament as a cause of cervical myelopathy; report of 13 Italian cases. Orthopaedic Sugery, 927-932, 1985 (in giapponese)
  60. Granata C, Merlini L, Bonfiglioli S, Mattutini P, Di Silvestre M. Miopatia congenita tipo minicore associata a scoliosi congenita: descrizione di un caso. Archivio di ortopedia e Reumatologia, 96, 85-88, 1985.
  61. Lipparini M, Sartoni Galloni S, Gervasio M, Merlini L, Bonfiglioli S, Cattozzo M, Granata C. L'ecografia nelle malattie neuromuscolari. La Chirurgia degli Organi di Movimento, 70 (4), 331-336, 1985.
  62. Merlini L, Granata C, Dominici P, Bonfiglioli S. Emery-Dreifuss Muscular Dystrophy: Report of five cases in a family and review of the literature. Muscle Nerve, 9 (6), 481-485, 1986.
  63. Toni A, Merlini L, Sudanese A, Baldini N, Granata C. L'Artrodesi scapolo-toracica nella distrofia facio-scapolo-omerale. La Chirurgia degli Organi di Movimento, 71 (2), 127-131, 1986.
  64. Merlini L, Albisinni U, Savini R. Case Report 384. Paraparesis from cauda equina compression due to disc herniation of L4-L5, in a patient with OPLL at L4-L5 and C4-C5. Skeletal Radiology, 15 (6), 488-491, 1986.
  65. Hodgson S, Boswinkel E, Cole C, Walker A, Dubowitz V, Granata C, Merlini L, Bobrow M. A linkage study of Emery-Dreifuss muscular dystrophy. Human Genetic, 74 (4), 409-416, 1986.
  66. Merlini L, Mattutini P, Bonfiglioli S, Granata C. Non progressive central core disease with severe congenital scoliosis: a case report. Developmental Medicine and Child Neurology, 29 (1), 106-109, 1987.
  67. Tosti A, Albisinni U, Bettioli V, Merlini L, Lama L. Ossification of the posterior longitudinal ligament associated with Etretinate therapy. Dermatologica, 175 (5), 257-258, 1987.
  68. Granata C, Calderara A, Uvietta D, Ravanello R, Bonfiglioli S, Merlini L. Le malattie neuromuscolari nell'Unità Sanitaria Locale Centro-Sud di Bolzano: aspetti ortopedici. La Chirurgia degli Organi di Movimento, 72 (2), 153-158, 1987.
  69. Granata C, Cornelio F, Bonfiglioli S, Mattutini P, Merlini L. Promotion of ambulation of patiens with spinal muscular atrophy by early fitting of knee-ankle-foot orthoses. Developmental Medicine and Child Neurology, 29 (2), 221-224, 1987.
  70. Pinelli G, Dominici P, Merlini L, Di Pasquale G, Granata C, Bonfiglioli S. Valutazione cardiologica in una famiglia affetta da distrofia muscolare di Emery-Dreifuss. Giornale Italiano di Cardiologia, 17 (7), 589-593, 1987.
  71. Merlini L, Granata C, Ballestrazzi A, Bonfiglioli S, Colombo C, Cervellati S, Savini R, Daniel S, Marchi M, Marini ML, Capelli T. Studio Morfologico e Morfometrico dei muscoli paraspinali e periferici nelle scoliosi idiopatiche. Progressi in Patologia Vertebrale, 9, 207-211, 1987.
  72. Terayama K, Ohtsuka K, Merlini L, Albisinni U, Gui L. Ossification of Spinal Ligament. A radiographic reevalutation in Bologna, Italy. Nippon-Seikeigeka-Gakkai-Zasshi, The Journal of Japanese Orthopaedic Association, 61 (12), 1373-1378, 1987.
  73. Giannini S, Ceccarelli F, Granata C, Capelli T, Merlini L. Surgical Correction of Cervical Hypertension in Rigid Spine Syndrome. Neuropediatrics, 19 (2), 105-108, 1988.
  74. Albisinni U, Chianura G, Merlini L, Calzolari S, Othsuka K, Terayama K. Ossificazione del legamento longitudinale posteriore del rachide lombare. La Radiologia Medica, 75 (5), 482-485, 1988.
  75. Granata C, Giannini S, Rubbini L, Corbascio M, Bonfiglioli S, Sabattini L, Merlini L. La chirurgia ortopedica per prolungare il cammino nella distrofia muscolare di Duchenne. La Chirurgia degli Organi di Movimento, 73 (3), 237-248, 1988.
  76. Merlini L, Magni E, Bonazzi A. La spasmofilia. Gli Ospedali della Vita, 15 (4), 25-30, 1988.
  77. Merlini L, Granata C, Ballestrazzi A, Cornelio F, Tassoni P, Tugnoli S, Cacciari E. Growth hormone evaluation in Duchenne muscular dystrophy. Italian Journal of Neurological Sciences, 9 (5), 471-475, 1988.
  78. Granata C, Bonfiglioli S, Marini ML, Merlini L, Magni E, Ballestrazzi A, Colombo C, Capelli T. La scoliosi neuromuscolare nei primi anni di vita. Progressi in Patologia Vertebrale, 10 , 235-237, 1988.
  79. Merlini L, Granata C, Albissini U, Marini ML, Giannini S, Dominici G. Severe cervical stenosis due to ossification of the posterior longitudinal ligament without neurological manifestations ("silent OPLL"). Italian Journal of Neurological Sciences, 10 (1), 93-96 , 1989
  80. Granata C, Capelli T, Schiavina M, Fabiani A, Ballestrazzi A, Sabattini L, Corbascio M, Merlini L. Ventilation mécanique dans la dystrophie musculaire de Duchenne. Sem. Hop. Paris, 65 (17), 1037-1041, 1989.
  81. Merlini L, Granata C, Bonfiglioli S, Marini ML, Cervellati S, Savini R. Scoliosis in spinal muscular atrophy: natural history and management. Developmental Medicine and Child Neurology, 31 (4), 501-508, 1989.
  82. Granata C, Merlini L, Magni E, Marini ML, Bonfiglioli Stagni S. Spinal Muscular Atrophy: Natural History and Orthopaedic Treatment of Scoliosis. Spine, 14 (7) , 760-762, 1989.
  83. Merlini L, Ballestrazzi A, Granata C. Miopatia di Dubowitz. Sindrome del rachide rigido. Rivista Italiana di Ortopedia e Traumatologia Pediatrica, 5 (2), 251-261, 1989.
  84. Granata C, Marini ML, Colombo C, Magni E, Mattutini P, Ballestrazzi A, Merlini L. La scoliosi nell'atrofia muscolare spinale. Rivista Italiana di Ortopedia e Traumatologia Pediatrica, 5 (2), 237-241, 1989.
  85. Ballestrazzi A, Granata C, Sabattini L, Capelli T, Bonfiglioli Stagni A, Merlini L. La scoliosi nella distrofia muscolare di Duchenne. Rivista Italiana di Ortopedia e Traumatologia Pediatrica, 5 (2), 243-250, 1989.
  86. Merlini L, Granata C, Ballestrazzi A, Marini ML. Rigid Spine Syndrome and Rigid Spine Sign in Myopathies. Journal of Child Neurology, 4 (4), 274-282, 1989.
  87. Calderoni P, Preti P, Merlini L, Mignani G. Miopatia Central core. Rivista Italiana di Ortopedia e Traumatologia Pediatrica, 5 (2), 263-266, 1989.
  88. Granata C, De Lollis A, Campo G, Piancastelli L, Merlini L. Analysis, design and development of a carbon fibre reinforced plastic knee-ankle-foot orthosis prototype for myopathic patients. Journal of Engineering in Medicine, Proc Inst Mech Eng, 204 (2), 91-96, 1990.
  89. Merlini L, Granata C. Rehabilitation of children with muscle disease. Current Opinion in Neurology and Neurosurgery, 3, 738-741, 1990.
  90. Granata C, Magni E, Merlini L, Cervellati S. La lussazione dell'anca nella atrofia muscolare spinale. La Chirurgia degli Organi di Movimento, 75 (2), 177-184, 1990.
  91. Granata C, Ballestrazzi A, Bonfiglioli Stagni S, Marini ML, Capelli T, Magni E, Merlini L. Storia naturale della scoliosi nella distrofia muscolare di Duchenne. Progressi in Patologia Vertebrale, 11, 235-248, 1990.
  92. Granata C, De Santis U, Dell'Accio D, Merlini L. La lombalgia degli autisti di autobus studio epidemiologico. Gli Ospedali della Vita, 2, 81-84, 1991.
  93. Granata C, Giannini S, Villa D, Bonfiglioli Stagni S, Merlini L. Le fratture nelle miopatie. Fractures in myopathies. La Chirurgia degli Organi di Movimento, 76 (1), 39-45, 1991.
  94. Merlini L, Ballestrazzi A, Barile P, Sabattini L, Bonfiglioli Stagni S, Mattutini P, Stagni A, Granata C. La scoliosi nella distonia - Scoliosis in dystonia. Rivista Neurobiologia, 37 (3), 171-176, 1991.
  95. Capobianco C, Bettoli V, Albisinni U, Merlini L, Vincenzi C. Isotretinoina - Alterazioni ossee e legamentose. Giornale Italiano di Dermatologia e Venereologia, 126 (6), 291-293, 1991.
  96. Cole C, Abbs SJ, Dubowitz V, Hodgson SV, Warner J, Merlini L, Bobrow M. Linkage of Emery-Dreifuss muscular dystrophy to the red/green cone pigment (RGCP) genes, proximal to factor VIII. Neuromuscular Disorders, 2 (1), 51-57, 1992.
  97. Merlini L, Bonfiglioli Stagni S, Marri E, Granata C. Epidemiology of neuromuscular disorders in the under-20 population in Bologna province, Italy. Neuromuscular Disorders, 2 (3), 197-200, 1992.
  98. Merlini L, Dell'Accio D, Holzl A, Granata C. Isokinetic muscle testing (IMT) in neuromuscular diseases. Preliminary report. Neuromuscular Disorders, 2 (3), 201-207, 1992.
  99. Merlini L, Albisinni U, Dell'Accio D, Terayama K, Ohtsuka K. L'Ossificazione del legamento longitudinale posteriore a livello cervicale e lombare. Epidemiologia e classificazione radiologica. Rivista neurobiologia, 38(4), 25-31, 1992.
  100. Ballestrazzi A, Ciufici D, Bonoldi S, Merlini L, Granata C. Nasal intermittent positive pressure ventilation in Duchenne Muscular Dystrophy. ACTA Cardioliologica IV, N. 1, 59-64, 1992.
  101. Saad FA, Vitiello L, Merlini L, Mostacciuolo ML, Oliviero S, Danieli GA. A 3' consensus splice mutation in the human dystrophin gene detected by a screening for intra-exonic deletions. Human Molecular Genetics, 1(5), 345-346, 1992.
  102. Giannini S, Ceccarelli F, Merlini L, Coppola G. Risultati preliminari del trattamento chirurgico nella sindrome del "Rachide rigido". Progressi in Patologia Vertebrale, 13, 261-267, 1993.
  103. Giannini S, Ceccarelli F, Coppola G, Granata C, Ballestrazzi A, Merlini L. Fissazione chirurgica della scapola nella distrofia muscolare facio-scapolo-omerale. Progressi in Patologia Vertebrale, 13, 283-288, 1993.
  104. Merlini L, Ballestrazzi A, Barile P, Sabattini L, Bonfiglioli-Stagni S, Mattutini P, Stagni A, Granata C. La scoliosi nella distonia. Progressi in Patologia Vertebrale, 13, 277-282, 1993.
  105. Granata C, Cervellati S, Ballestrazzi A, Corbascio M, Merlini L. Spine surgery in spinal muscular atrophy: long-term results. Neuromuscular Disorders, 3 (3), 207-215, 1993.
  106. Granata C, Ballestrazzi A, Bartone MT, De Santis U, Sabatini L, Merlini L. La scoliosi nella distrofia muscolare di Duchenne. Minerva Ortopedica Traumatologica, 44, 613-615, 1993.
  107. Merlini L. Lesson for the month. Calf myopathy with a twist. Neuromuscular Disorders, 4 (1), 13-15, 1994.
  108. Granata C, Giannini S, Ballestrazzi A, Merlini L. Early surgery in Duchenne muscular dystrophy. Experience at Istituto Ortopedico Rizzoli, Bologna, Italy. Neuromuscular Disorders, 4 (1), 87-88, 1994.
  109. Granata C, Merlini L, Zuccheri C, Ballestrazzi A. La scoliosi nelle miopatie. Storia naturale della scoliosi nella distrofia muscolare di Duchenne. Progressi in Patologia Vertebrale, 17, 335-338, 1994.
  110. Mora M, Morandi L, Merlini L, Vita G, Baradello A, Barresi R, Di Blasi C, Blasevich F, Gebbia M, Daniel S, Cornelio F. Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies. Muscle Nerve, 17(10), 1176-1184, 1994.
  111. Merlini L, Morandi L, Granata C, Ballestrazzi A. Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures. Description of two new families.Neuromuscular Disorders, 4 (5/6), 503-511, 1994.
  112. Schiavon F, Mostacciuolo ML, Saad F, Merlini L, Siciliano G, Angelini C, Danieli GA. Non-radioactive detection of 17p11-12 duplication in CMT1A: a study of 78 patients. Journal Med Genet, 31(11), 880-883, 1994.
  113. Ferlini A, Patrosso MC, Guidetti D, Merlini L, Uncini A, Ragno M, Plasmati R, Fini S, Repetto M, Vezzoni P, Forabosco A. Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders. American Journal of Medical Genetics, 55 (1), 105-111, 1995.
  114. Piccolo F, Roberds SL, Jeanpierre M, Leturcq F, Azibi K, Beldjord C,Carrié A, Récan D, Chaouch M, Reghis A, El Kerch F, Sefiani A, Voit T, Merlini L, Collin H, Eymard B, Beckmann JS, Romero NB, Tomé FMS, Fardeau M, Campbell KP, Kaplan JC. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nature Genetics, 10, 243-245, 1995.
  115. Merlini L, Dell’Accio D, Granata C. Reliability of Dynamic Strength Knee Muscle Testing in Children. Journal Orthopaedic Sports Physical Theraphy, 22 (2), 73-76, 1995.
  116. Gennarelli M, Lucarelli M, Capon F, Pizzuti B, Merlini L, Angelini C, Novelli G, Dallapiccola B. Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients. Biochemical and Biophysical Research Communications, 213 (1), 342-348, 1995.
  117. Morandi L, Mora M, Confalonieri V, Barresi R, Di Biasi C, Brugnoni R, Bernasconi P, Mantegazza R, Dworzak F, Antozzi C, Balestrini MR, Jarre L, Pini A, Merlini L, Piccolo G, Mazanti A, Daniel S, Blasevich F, Cornelio F. Dystrophin characterization in BMD patients: correlation of abnormal protein with clinical phenotype. Journal of the Neurological Sciences, 132, 146-155, 1995.
  118. Bione S, Small K, Aksmanovic VMA, D’Urso M, Ciccodicola A, Merlini L, Morandi L, Kress W, Yates JRW, Warren ST, Toniolo D. Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Human Molecular Genetics, 4 (10), 1859-1863, 1995.
  119. Bungaro P, Rollo G, Sabato C, Merlini L, Zinghi GF. Lesion of the sciatic nerve in fractures of the acetabulum. La Chirurgia degli Organi di Movimento, 80 (4), 391-397, 1995.
  120. Zerres K, Rudnik-Schoeneborn S, Dubowitz V, Emery AEH, Forst R, Granata C, Haverkamp F, Merlini L, Mielke U, Mokrush T, Mortier W, Nix WA, Ruedel R, Voit T, Wollinsky KH, Zierz S, Roehrig D. Guidelines for symptomatic therapy in Spinal Muscular Atrophy (SMA). Acta Cardiomiologica, 7, 61-66, 1995
  121. Bedogni G, Merlini L, Ballestrazzi A, Severi S, Battistini N. Multifrequency bioelectric impedance measurements for predicting body water compartments in Duchenne muscular dystrophy. Neuromuscular Disorders, 6, 1, 55-60, 1996.
  122. Granata C, Merlini L, Cervellati S, Ballestrazzi A, Giannini S, Corbascio M, Lari S. Long-term results of spine surgery in Duchenne Muscular Dystrophy. Neuromuscular Disorders, 6, 1, 61-68, 1996.
  123. Jung D, Leturcq F, Sunada Y, Duclos F, Tomé FMS, Moomaw C, Merlini L, Azibi K, Chaouch M, Slaughter C, Fardeau M, Kaplan JC, Campbell KP. Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. FEBS Letters, 381,15-20, 1996.
  124. Capon F, Levato C, Semprini S, Pizzuti A, Merlini L, Novelli G, Dallapiccola B. Deletion analysis of SMN and NAIP genes in Spinal Muscular Atrophy Italian families. Muscle Nerve, 19, 378-380, 1996.
  125. Pini A, Merlini L, Tomé FMS, Chevallay M, Gobbi G. Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families. Brain & Development, 18, 316-322, 1996.
  126. Restagno G, Romero N, Richard I, Beckmann JS, Pagliano M, Ferrone M, Carbonara A, Merlini L. Prenatal diagnosis of limb-girdle muscular dystrophy type 2A. Neuromuscular Disorders, 6, 3, 173-176, 1996.
  127. Capon F, Levato C, Merlini L, Angelini C, Mostacciuolo ML, Politano L, Novelli G, Dallapiccola B. Discordant clinical outcome in type III Spinal Muscular Atrophy sibships showing the same deletion pattern. Neuromuscular Disorders, 6, 4, 261-264,1996.
  128. Piccolo F, Jeanpierre M, Leturq F, Dodè C, Azibi K, Toutain A, Merlini L, Jarre L, Navarro C, Krishnamoorthy R, Tomé FMS, Urtizberea JA, Beckmann JS, Campbell KP, Kaplan JC. A founder mutation in the gamma-sarcoglycan gene of Gypsies possibly predating their migration out of India. Human Molecular Genetics, 5, 12, 2019-2022, 1996.
  129. D’Alessandro M, Arahata K, Dubowitz V, Estournet B, Guicheney P, Helbling-Leclerc A, Leyten Q, Matsamura K, Merlini L, Muntoni F, North K, Pegoraro E, Pihko H, Sewry C, Tomé F, Topaloglu H, Voit T, Wewer U. 41st ENMC International Workshop on Congenital Muscular Dystrophy. Neuromuscular Disorders, 6, 4, 295-306, 1996.
  130. Beckmann JS, Richard I, Broux O, Fougerousse F, Allamand V, Chiannilkulchai N, Lim LE, Duclos F, Bourg N, Brenguier L, Pasturaud P, Quétier F, Roudaut C, Sunada Y, Meyer J, Dincer P, Lefranc G, Merlini L, Topaloglu H, Tomé FMS, Cohen D, Jackson CE, Campbell KP, Fardeau M. Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies. Neuromuscular Disorders, 6, 6, 455-462, 1996.
  131. Jeanpierre M, Carrié A, Piccolo F, Leturcq F, Azibi K, De Toma C, Beldjord C, Merlini L, Voit T, Romero N, Sunada Y, Tomé FMS, Fardeau M, Campbell KP, Kaplan JC. From adhalinopathies to alpha-sarcoglycanopathies: an overview. Neuromuscular Disorders, 6, 6, 463-465, 1996.
  132. Eymard B, Romero NB, Leturcq F, Piccolo F, Carrie A, Jeanpierre M, Collin H, Deburgrave N, Azibi K, Chaouch M, Merlini L, Themar-Noel C, Penisson I, Mayer M, Tanguy O, Campbell KP, Kaplan JC, Tome FM, Fardeau M. Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. Neurology 1997 May;48(5):1227-34.
  133. Marchetti C, Bianchi A, Merlini L, Tonelli P. Rigid internal fixation of the jaws in an adult patient with facio-scapulo-humeral muscular dystrophy: report of a case. J Craniomaxillofac Surg 1997 Oct;25(5):275-8.
  134. Mora M, Cartegni L, Di Blasi C, Barresi R, Bione S, Raffaele di Barletta M, Morandi L, Merlini L, Nigro V, Politano L, Donati MA, Cornelio F, Cobianchi F, Toniolo D. X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. Ann Neurol 1997 Aug;42(2):249-53.
  135. Villanova M, Sewry C, Malandrini A, Toti P, Muntoni F, Merlini L, Torelli S, Tosi P, Maraldi NM, Guazzi GC. Immunolocalization of several laminin chains in the normal human central and peripheral nervous system. J Submicrosc Cytol Pathol 1997 Jul;29(3):409-13.
  136. Richard I, Brenguier L, Dincer P, Roudaut C, Bady B, Burgunder JM, Chemaly R, Garcia CA, Halaby G, Jackson CE, Kurnit DM, Lefranc G, Legum C, Loiselet J, Merlini L, Nivelon-Chevallier A, Ollagnon-Roman E, Restagno G, Topaloglu H, Beckmann JS. Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. Am J Hum Genet 1997 May;60(5):1128-38.
  137. Carrie A, Piccolo F, Leturcq F, de Toma C, Azibi K, Beldjord C, Vallat JM, Merlini L, Voit T, Sewry C, Urtizberea JA, Romero N, Tome FM, Fardeau M, Sunada Y, Campbell KP, Kaplan JC, Jeanpierre M. Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). J Med Genet 1997 Jun;34(6):470-5.
  138. Angelini C, Bonifati M, Dubowitz V, Henriksson K, Malaspina E, Merlini L, Reitter B, Shapira Y, Taylor J, Topaloglou H, Voit T, Emery A, Urtizberea A. 47thy ENMC International workshop: Treatment of muscular dystrophy 13-15 December 1996, Naarden, The Netherlands. Neuromuscular Disorders 1997; 7:261-67.
  139. Guicheney P, Vignier N, Helbling-Leclerc A, Nissinen M, Zhang X, Cruaud C, Lambert JC, Richelme C, Topaloglu H, Merlini L, Barois A, Schwartz K, Tome FM, Tryggvason K, Fardeau M. Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis. Neuromuscul Disord 1997 May;7(3):180-6.
  140. Cartegni L, di Barletta MR, Barresi R, Squarzoni S, Sabatelli P, Maraldi N, Mora M, Di Blasi C, Cornelio F, Merlini L, Villa A, Cobianchi F, Toniolo D. Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy. Hum Mol Genet 1997 Dec;6(13):2257-64
  141. Squarzoni S, Villanova M, Sabatelli P, Malandrini A, Toti P, Pini A, Merlini L, Guazzi GC, Maraldi NM. Intracellular detection of laminin alpha 2 chain in skin by electron microscopy immunocytochemistry: comparison between normal and laminin alpha 2 chain deficient subjects. Neuromuscul Disord 1997 Mar;7(2):91-8
  142. Schiavon F, Rampazzo A, Merlini L, Angelini C, M. L. Mostacciolo. Mutations of the same sequence of the myelin P0 gene causing two different phenotypes. Human Mutation 1998;Suppl 1:S217-19.
  143. Guicheney P, Vignier N, Zhang X, He Y, Cruaud C, Frey V, Helbling-Leclerc A, Richard P, Estournet B, Merlini L, Topaloglu H, Mora M, Harpey JP, Haenggeli CA, Barois A, Hainque B, Schwartz K, Tome FM, Fardeau M, Tryggvason K. PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. J Med Genet 1998 Mar;35(3):211-7.
  144. Kalaydjieva L, Nikolova A, Turnev I, Petrova J, Hristova A, Ishpekova B, Petkova I, Shmarov A, Stancheva S, Middleton L, Merlini L, Trogu A, Muddle JR, King RH, Thomas PK. Hereditary motor and sensory neuropathy Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings. Brain 1998 Mar;121 ( Pt 3):399-408.
  145. Sabatelli P, Squarzoni S, Petrini S, Capanni C, Ognibene A, Cartegni L, Cobianchi F, Merlini L, Toniolo D, Maraldi NM. Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers. Neuromuscul Disord 1998 Apr;8(2):67-71.
  146. Louboutin JP, Navenot JM, Villanova M, Rouger K, Merlini L, Fardeau M. X -linked vacuolated myopathy: membrane attack complex deposition on the surface membrane of injured muscle fibers is not accompanied by S-protein. Muscle Nerve 1998 Jul;21(7):932-5.
  147. Merlini L, Villanova M, Sabatelli P, Trogu A, Malandrini A, Yanakiev P, Maraldi NM, Kalaydjieva L. Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family. Neuromuscul Disord 1998 May;8(3-4):182-5.
  148. Squarzoni S, Sabatelli P, Ognibene A, Toniolo D, Cartegni L, Cobianchi F, Petrini S, Merlini L, Maraldi NM. Immunocytochemical detection of emerin within the nuclear matrix. Neuromuscul Disord 1998 Jun;8(5):338-44.
  149. Ferlini A, Galie N, Merlini L, Sewry C, Branzi A, Muntoni F. A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. Am J Hum Genet 1998 Aug;63(2):436-46.
  150. Saad FA, Merlini L, Mostacciuolo ML, Danieli GA. Double missense mutation in exon 41 of the human dystrophin gene detected by double strand conformation analysis. Am J Med Genet 1998 Nov 2;80(2):99-102.
  151. Villanova M, Sabatelli P, He Y, Malandrini A, Petrini S, Maraldi NM, Merlini L. Immunofluorescence study of a muscle biopsy from a 1-year-old patient with Walker-Warburg syndrome. Acta Neuropathol (Berl) 1998 Dec;96(6):651-4.
  152. Sangiuolo F, Botta A, Mesoraca A, Servidei S, Merlini L, Fratta G, Novelli G, Dallapiccola B. Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online. Hum Mutat 1998;11(4):331.
  153. Bakker E, Deering MB, van Deutekom J, Duboc D, Dubowitz V, Forst R, Granata C, Hoffman E, Kochanek S, Leger P, Merlini L, Muntoni F, van Ommen G-J. Partridge T, Reitter B, Scheuerbrandt G, Steffensen B, Urtizberea A. DMD meeting. First Meeting of the Duchenne Parent Project in Europe: treatment of Duchenne muscular dystrophy 7-8 November 1997, Rotterdam, The Netherlands. Neuromuscular Disorders 1998 Dec;8:213-9.
  154. Bonne G, Di Barletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999 Mar;21(3):285-8.
  155. Pepe G, Giusti B, Bertini E, Brunelli T, Saitta B, Comeglio P, Bolognese A, Merlini L, Federici G, Abbate R, Chu ML. A heterozygous splice site mutation in COL6A1 leading to an In-frame deletion of the alpha1(VI) collagen chain in an Italian family affected by Bethlem myopathy. Biochem Biophys Res Commun 1999 May 19;258(3):802-7.
  156. Ognibene A, Sabatelli P, Petrini S, Squarzoni S, Riccio M, Santi S, Villanova M, Palmieri S, Merlini L, Maraldi NM.Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy. Muscle Nerve. 1999 Jul;22(7):864-9.
  157. Pepe G, Bertini E, Giusti B, Brunelli T, Comeglio P, Saitta B, Merlini L, Chu ML, Federici G, Abbate R. A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutation’s screening of type VI collagen. Neuromuscul Disord. 1999 Jun;9(5):326-9.
  158. Merlini L, Villanova M, Sabatelli P, Malandrini A, Maraldi NM. Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy. Neuromuscul Disord. 1999 Jul;9(5):326-9.
  159. King RH, Tournev I, Colomer J, Merlini L, Kalaydijeva L, Thomas PK. Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-Lom. Neuropathol Appl Neurobiol. 1999 Aug;25(4):306-12.
  160. Vitelli F, Villanova M, Malandrini A, Bruttini M, Piccini M, Merlini L; Guazzi G, Renieri A. Inheritance of a 38-kb fragment in apparently sporadic facioscapulohumeral muscular dystrophy. Muscle Nerve. 1999 Oct;22(10):1437-41.
  161. Moghadaszadeh B, Topaloglu H, Merlini L, Muntoni F, Estournet B, Sewry C, Naom I, Barois A, Fardeau M, Tomè FMS, Guicheney P. Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome. Neuromuscul Disord. 1999 Oct;9(6-7):376-82.
  162. Viganò A, Tomba P, Merlini L. A manuscript worth a villa. Vittorio Putti’s acquisition of the Guy de Chauliac manuscript. Acta Orthop Scand. 1999 Dec;70(6):531-5.
  163. Bonne G, Dubowitz V, Ellis J, Hausmanowa-Petrusewicz I. Merlini L, Morris G, Muntoni F, Recan-Budiartha D, Sewry C, Toniolo D, Yates J, Wehnert M. 60th ENMC International Workshop: non X-linked Emery-Dreifuss muscular dystrophy 5-7 June 1998, Naarden, The Netherlands. Neuromuscul Disord. 1999;9:115-21.
  164. Martin J.J, Brice A, Van Broeckhoven C, Birouk N, Gabreels-Festen A, Gambardella A, Gouider R, Grid D, Hentati F, De Jonghe P, Kalaydjieva L, Koenig M, LeGuern E, Mancardi GL, Merlini L, Meuleman J, Rampoldi L, Salih M, Thomas PK, Topaloglu H. 4thWorkshop of the >European CMT-Consortium – 62ndENMC International Workshop: Rare forms of Charcot-Marie-Tooth disease and related disorders 16-18 October 1998, Soestduinen, The Netherlands. Neuromuscul Disord. 1999;9:279-287.
  165. Villanova M, Caudai C, Sabatelli P, Toti P, Malandrini A, Luzi P, Maraldi NM, Valensin PE, Merlini L. Hepatitis C virus infection and myositis: a polymerase chain reaction study. Acta Neuropathol (Berl). 2000 Mar;99(3):271-6.
  166. Merlini L, Kaplan J.-C, Navarro C, Barois A, Bonneau D, Brasa J, Echenne B, Gallano P, Jarre L, Jeanpierre M, Kalaydijeva L, Leturck F, Levi-Gomes A, Toutain A, Tournev I, Urtizberea A, Vallat J.-M, Voit T, Warter J.-M. Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation. Neurology. 2000 Mar 14;54(5):1075-9.
  167. Raffaele di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Hausmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet. 2000 Apr;66(4):1407-12.
  168. Macri S, De Monte A, Greggi T, Parisini P, Zanoni A, Merlini L. Intra-operative spinal cord monitoring in orthopaedics. Spinal Cord. 2000 Mar;38(3):133-9. Review.
  169. Squarzoni S, Sabatelli P, Capanni C, Petrini S, Ognibene A, Toniolo D, Cobianchi F, Zauli G, Bassini A, Baracca A, Guarnieri C, Merlini L, Maraldi NM. Emerin presence in platelets. Acta Neuropathol (Berl). 2000;100(3):291-8.
  170. Lattanzi G, Ognibene A, Sabatelli P, Capanni C, Toniolo D, Columbaro M, Santi S, Riccio M, Merlini L, Maraldi NM, Squarzoni S. Emerin expression at the early stages of myogenic differentiation.Differentiation 2000 Dec;66(4-5):208-17
  171. Bonne G, Mercuri E, Muchir A, Urtizberea A, Becane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol. 2000 Aug;48(2):170-80.
  172. Lattanzi G, Muntoni F, Sabatelli P, Squarzoni S, Maraldi NM, Cenni V, Villanova M, Columbaro M, Merlini L, Marmiroli S. Unusual laminin alpha2 processing in myoblasts from a patient with a novel variant of congenital muscular dystrophy. Neuromuscul Disord. 2000 Dec 1;10(8):541-547.
  173. Villanova M, Mercuri E, Bertini E, Sabatelli P, Morandi L, Mora M, Sewry C, Brockington M, Brown SC, Ferreiro A, Maraldi NM, Toda T, Guicheney P, Merlini L, Muntoni F. Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome. Neuromuscul Disord. 2000 Dec 1;10(8):541-547.
  174. Chandler D, Angelicheva D, Heather L, Gooding R, Gresham D, Yanakiev P, de Jonge R, Baas F, Dye D, Karagyozov L, Savov A, Blechschmidt K, Keats B, Thomas PK, King RH, Starr A, Nikolova A, Colomer J, Ishpekova B, Tournev I, Andoni Urtizberea J, Merlini L, Butinar D, Chabrol B, Voit T, Baethmann M, Nedkova V, Corches A, Kalaydjieva L. Hereditary motor and sensory neuropathy - Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries. Neuromuscul Disord. 2000 Dec 1;10(8):584-591.
  175. Santorelli FM, Villanova M, Malandrini A, Grieco GS, Palmeri S, Merlini L, Casali C. Chronic diarrhea associated with the A3243G mtDNA mutation. Neurology. 2000 Jan 11;54(1):266-7.
  176. Lui F, Fonda S, Merlini L, Corazza R. Saccadic eye movements are impaired in Duchenne muscular dystrophy. Doc Ophthalmol 2001;103:219-228.
  177. Sabatelli P, Bonaldo P, Lattanzi G, Braghetta P, Bergamin N, Capanni C, Mattioli E, Columbaro M, Ognibene A, Pepe G, Bertini E, Merlini L, Maraldi NM, Squarzoni S. Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts. Matrix Biol 2001;20:475-486.
  178. Thomas PK, Kalaydjieva L, Youl B, Rogers A, Angelicheva D, King RH, Guergueltcheva V, Colomer J, Lupu C, Corches A, Popa G, Merlini L, Shmarov A, Muddle JR, Nourallah M, Tournev I. Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan Gypsies. Ann Neurol 2001;50:452-457.
  179. Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Roy SQ, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, Guicheney P. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet 2001;29:17-18.
  180. Mostacciuolo ML, Righetti E, Zortea M, Bosello V, Schiavon F, Vallo L, Merlini L, Siciliano G, Fabrizi GM, Rizzuto N, Milani M, Baratta S, Taroni F. Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families. Hum Mutat 2001;18:32-41.
  181. Sabatelli P, Lattanzi G, Ognibene A, Columbaro M, Capanni C, Merlini L, Maraldi NM, Squarzoni S. Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy. Muscle Nerve 2001;24:826-829.
  182. Talim B, Ognibene A, Mattioli E, Richard I, Anderson LV, Merlini L. Normal calpain expression in genetically confirmed limb-girdle muscular dystrophy type 2A. Neurology 2001;56:692-693.
  183. Nelis E, Irobi J, De Vriendt E, Van Gerwen V, Perez Novo C, Topaloglu H, Auer-Grumbach M, Merlini L, Villanova M, Jordanova A, De Jonghe P, Timmerman V. Homozygosity mapping of families with recessive Charcot-Marie-Tooth neuropathies. Acta Myologica 2001; XX:39-42.
  184. Merlini L, Kaplan J-C, Navarro C, Kalaydjieva L, Leturcq F, Tournev I, Guergueltcheva V, Politano L, Gresham D, Santos M, Teijeira S, Mattioli E. The limb-girdle muscular dystrophy 2C in Gypsies. Acta Myologica 2001;XX:188-191.
  185. Moghadaszadegh B, Petit N, Hu C, Merlini L, Topaloglu H, Muntoni F, Tomè FMS, Guicheney P. Selenoprotein N: the culprit for congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Acta Myologica 2001; XX:104-109.
  186. Kalaydjieva L, King R, Gresham D, Molnar M, Tournev I, Angelicheva D, Butinar D, Colomer J, Corches A, Lupu C, Merlini L, Zanetti M, Bergonzoni C, Thomas PK. Hereditary motor and sensory neuropathy Lom. Acta Myologica 2001;XX:192-201.
  187. Tournev I, Thomas PK, Gooding R, Angelicheva D, King R, Youl B, Guergueltcheva V, Ispekova B, Blechsmidt K, Swoboda K, Petkov R, Molnar M, Kamenov Z, Siska E, Taneva N, Borisova P, Lupu C, Raycheva M, Trifonova N, Popova A, Corches A, Litvinenko I, Merlini L, Katzarova M, Tzankov B, Popa G, Akkari P, Rosenthal A, Donzelli O, Kalaydjieva L. Congenital cataracts facial dysmorphism neuropathy syndrome – clinical, neuropathological and genetic investigation. Acta Myologica 2001;XX:210-219.
  188. Muntoni F, Blake D, Brockington M, Brown S, Hayashi YK, Merlini L, Sabatelli P, Topaloglu H, Voit T, Guicheney P. 85thENMC International Workshop on Congenital Muscular Dystrophy 6thInternational CMD Workshop 1stWorkshop of the Myo-Cluster Project GENRE, 27-28thOctober 2000, Naarden, The Netherlands. Neuromuscul Disord 2002;12:69-78.
  189. Bonne G, Capeau J, De Visser M, Duboc D, Merlini L, Morris GE, Muntoni F, Recan D, Sewry C, Squarzoni S, Stewart C, Talim B, van der Kooi A, Worman H, Schwartz K. 82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands. Neuromuscul Disord 2002;12:187-194.
  190. Merlini L, Estournet-Mathiaud B, Iannaccone S, Melki J, Muntoni F, Rudnik-Schoneborn S, Topaloglu H, Vita G, Voit T. 90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands. Neuromuscul Disord 2002;12:201-210.
  191. Talim B, Malaguti C, Gnudi S, Politano L, Merlini L. Vertebral compression in Duchenne muscular dystrophy following deflazacort. Neuromuscul Disord 2002;12:294-295.
  192. Pepe G, de Visser M, Bertini E, Bushby K, Vanegas OC, Chu ML, Lattanzi G, Merlini L, Muntoni F, Urtizberea A. Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands. Neuromuscul Disord 2002;12:296-305.
  193. Mercuri E, Talim B, Moghadaszadeh B, Petit N, Brockington M, Counsell S, Guicheney P, Muntoni F, Merlini L. Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). Neuromuscul Disord 2002;12:631-638.
  194. Muntoni F, Bertini E, Bonnemann C, Brockington M, Brown S, Bushby K, Fiszman M, Korner C, Mercuri E, Merlini L, Hewitt J, Quijano-Roy S, Romero N, Squarzoni S, Sewry CA, Straub V, Topaloglu H, Haliloglu G, Voit T, Wewer U, Guicheney P. 98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands. Neuromuscul Disord 2002;12:889-896.
  195. Vytopil M, Ricci E, Dello Russo A, Hanisch F, Neudecker S, Zierz S, Ricotti R, Demay L, Richard P, Wehnert M, Bonne G, Merlini L, Toniolo D. Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy. Neuromuscul Disord 2002;12:958-963.
  196. Pepe G, Bertini E, Bonaldo P, Bushby K, Giusti B, de Visser M, Guicheney P, Lattanzi G, Merlini L, Muntoni F, Nishino I, Nonaka I, Yaou RB, Sabatelli P, Sewry C, Topaloglu H, van der Kooi A. Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscul Disord 2002;12:984-993.
  197. van der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim B, Van der Valk M, Reiss P, Richard P, Demay L, Merlini L, Schwartz K, Busch HF, de Visser M. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology 2002;59:620-623.
  198. Merlini L, Mazzone ES, Solari A, Morandi L. Reliability of hand-held dynamometry in spinal muscular atrophy. Muscle Nerve 2002;26:64-70.
  199. Merlini L, Carbone I, Capanni C, Sabatelli P, Tortorelli S, Sotgia F, Lisanti MP, Bruno C, Minetti C. Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene. J Neurol Neurosurg Psychiatry 2002;73:65-67.
  200. Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet 2002;70:1446-1458.
  201. Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet 2002;71:426-431.
  202. Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 2002;71:1033-1043.
  203. Vanegas OC, Zhang RZ, Sabatelli P, Lattanzi G, Bencivenga P, Giusti B, Columbaro M, Chu ML, Merlini L, Pepe G. Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy. Muscle Nerve 2002;25:513-519.
  204. Merlini L, Gooding R, Lochmuller H, Muller-Felber W, Walter MC, Angelicheva D, Talim B, Hallmayer J, Kalaydjieva L. Genetic identity of Marinesco-Sjogren/myoglobinuria and CCFDN syndromes. Neurology 2002;58:231-236.
  205. Merlini L, Forst J. Distrofie muscolari: trattamento chirurgico ortopedico. Neurol Sci 2002;23:S365-S369.
  206. Merlini L. Myo-Cluster. Neuromuscul Disord 2001: 11:101-102.
  207. Merlini L, Tomba P, Vigano A. Berengario da Carpi, a pioneer in anatomy, rediscovered by Vittorio Putti. Neuromuscul Disord 2003;13:421-425.
  208. Muller JS, Mildner G, Muller-Felber W, Schara U, Krampfl K, Petersen B, Petrova S, Stucka R, Mortier W, Bufler J, Kurlemann G, Huebner A, Merlini L, Lochmuller H, Abicht A. Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients. Neurology 2003;60:1805-1810.
  209. Sabatelli P, Columbaro M, Mura I, Capanni C, Lattanzi G, Maraldi NM, Beltran-Valero de Barnabe D, van Bokoven H, Squarzoni S, Merlini L. Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation. Biochim Biophys Acta 2003;1638:57-62.
  210. LattanziG, Cenni V, Marmiroli S, Capanni C, Mattioli E, Merlini L, Squarzoni S, Maraldi NM. Association of emerin with nuclear and cytoplasmic actin is regulated in differentiating myoblasts. Biochem Biophys Res Commun 2003;303:764-770.
  211. MartinuzziA, Sartori E, Fanin M, Nascimbeni A, Valente L, Angelini C, Siciliano G, Mongini T, Tonin P, Tomelleri G, Toscano A, Merlini L, Bindoff LA, Bertelli S. Phenotype modulators in myophosphorylase deficiency. Ann Neurol 2003;53:497-502.
  212. Boriani G, Gallina M, Merlini L, Bonne G, Toniolo D, Amati S, Biffi M, Martignani C, Frabetti L, Bonvicini M, Rapezzi C, Branzi A. Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. Stroke 2003;34:901-908.
  213. Merlini L, Cicognani A, Malaspina E, Gennari M, Gnudi S, Talim B, Franzoni E. Early prednisone treatment in Duchenne muscular dystrophy. Muscle Nerve 2003;27:222-227.
  214. Eisenberg I, Grabov-Nardini G, Hochner H, Korner M, Sadeh M, Bertorini T, Bushby K, Castellan C, Felice K, Mendell J, Merlini L, Shilling C, Wirguin I, Argov Z, Mitrani-Rosenbaum S. Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. Hum Mutat 2003;21:99.
  215. Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of {alpha}-dystroglycan. Hum Mol Genet. 2003; Sep 9 [Epub ahead of print]. 12:2853-2861.
  216. Varon R, Gooding R, C Steglich, L Marns, H Tang, D Angelicheva, K K Yong, P Ambrugger, A Reinhold, B Morar, F Baas, M Kwa, I Tournev, V Guerguelcheva, I Kremensky, H Lochmüller, A Müllner-Eidenböck, L Merlini L, L Neumann, J Bürger, M Walter, K Swoboda, P K Thomas, A von Moers, N Risch & L Kalaydjieva.Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet. 2003 Oct;35(2):185-9. Epub 2003 Sep 21.
  217. Merlini L, Solari A, Vita G, Bertini E, Minetti C, Mongini T, Mazzoni E, Angelini C, Morandi L. Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study. J Child Neurol. 2003 Aug;18(8):537-41.
  218. Bonne G, Yaou RB, Beroud C, Boriani G, Brown S, de Visser M, Duboc D, Ellis J, Hausmanowa-Petrusewicz I, Lattanzi G, Merlini L, Morris G, Muntoni F, Opolski G, Pinto YM, Sangiuolo F, Toniolo D, Trembath R, van Berlo JH, van der Kooi AJ, Wehnert M. 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. Neuromuscul Disord 2003;13:508-515.
  219. Muntoni F, Valero de Bernabe B, Bittner R, Blake D, van Bokhoven H, Brockington M, Brown S, Bushby K, Campbell KP, Fiszman M, Gruenewald S, Merlini L, Quijano-Roy S, Romero N, Sabatelli P, Sewry CA, Straub V, Talim B, Topaloglu H, Voit T, Yurchenco PD, Urtizberea JA, Wewer UM, Guicheney P. 114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE). Neuromuscul Disord 2003;13:579-588.
  220. Ammar N, Nelis E, Merlini L, Barisic N, Amouri R, Ceuterick C, Martin JJ, Timmerman V, Hentati F, De Jonghe P. Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. Neuromuscul Disord. 2003 Nov;13(9):720-8.
  221. Hantke J, Rogers T, French L, Tournev I, Guergueltcheva V, Urtizberea JA, Colomer J, Corches A, Lupu C, Merlini L, Thomas PK, Kalaydjieva L. Refined mapping of the HMSNR critical gene region--construction of a high-density integrated genetic and physical map. Neuromuscul Disord. 2003 Nov;13(9):729-36.
  222. Irwin WA, Bergamin N, Sabatelli P, Reggiani C, Megighian A, Merlini L, Braghetta P, Columbaro M, Volpin D, Bressan GM, Bernardi P, Bonaldo P. Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. Nat Genet. 2003 Dec;35(4):367-71. Epub 2003 Nov 16.
  223. Vytopil M, Benedetti S, Ricci E, Galluzzi G, Dello Russo A, Merlini L, Boriani G, Gallina M, Morandi L, Politano L, Moggio M, Chiveri L, Hausmanova-Petrusewicz I, Ricotti R, Vohanka S, Toman J, Toniolo D. Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. J Med Genet. 2003 Dec;40(12):E132.
  224. Capanni C, Sabatelli P, Mattioli E, Ognibene A, Columbaro M, Lattanzi G, Merlini L, Minetti C, Maraldi NM, Squarzoni S. Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition. Exp Mol Med. 2003 Dec 31;35(6):538-44.
  225. Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Den Bergh PV, Verellen C, Maldergem LV, Merlini L, Jonghe PD, Timmerman V, Crosby AH, Wagner K. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet. 2004 Mar;36(3):271-6.
  226. Merlini L, Bertini E, Minetti C, Mongini T, Morandi L, Angelini C, Vita G. Motor function-muscle strength relationship in spinal muscular atrophy. Muscle Nerve. 2004 Apr;29(4):548-52.
  227. Demir E, Ferreiro A, Sabatelli P, Allamand V, Makri S, Echenne B, Maraldi M, Merlini L, Topaloglu H, Guicheney P. Collagen VI Status and Clinical Severity in Ullrich Congenital Muscular Dystrophy: Phenotype Analysis of 11 Families Linked to the COL6 Loci. Neuropediatrics. 2004 Apr;35(2):103-12.
  228. Irobi J, Van Den Bergh P, Merlini L, Verellen C, Van Maldergem L, Dierick I, Verpoorten N, Jordanova A, Windpassinger C, De Vriendt E, Van Gerwen V, Auer-Grumbach M, Wagner K, Timmerman V, De Jonghe P. The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. Brain. 2004 Sep;127(Pt 9):2124-30.
  229. Benedetti S, Merlini L. Laminopathies: from the heart of the cell to the clinics. Curr Opin Neurol. 2004 Oct;17(5):553-60.
  230. Torelli S, Brown SC, Brockington M, Dolatshad NF, Jimenez C, Skordis L, Feng LH, Merlini L, Jones DH, Romero N, Wewer U, Voit T, Sewry CA, Noguchi S, Nishino I, Muntoni F. Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I. Neuromuscul Disord. 2005 Dec;15(12):836-43.
  231. Petrini S, Tessa A, Stallcup WB, Sabatelli P, Pescatori M, Giusti B, Carrozzo R, Verardo M, Bergamin N, Columbaro M, Bernardini C, Merlini L, Pepe G, Bonaldo P, Bertini E. Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency. Mol Cell Neurosci. 2005 Nov;30(3):408-17.
  232. Giusti B, Lucarini L, Pietroni V, Lucioli S, Bandinelli B, Sabatelli P, Squarzoni S, Petrini S, Gartioux C, Talim B, Roelens F, Merlini L, Topaloglu H, Bertini E, Guicheney P, Pepe G. Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. Ann Neurol. 2005 Sep;58(3):400-10.
  233. Cagliani R, Magri F, Toscano A, Merlini L, Fortunato F, Lamperti C, Rodolico C, Prelle A, Sironi M, Aguennouz M, Ciscato P, Uncini A, Moggio M, Bresolin N, Comi GP. Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies. Hum Mutat. 2005 Sep;26(3):283.
  234. Lucioli S, Giusti B, Mercuri E, Vanegas OC, Lucarini L, Pietroni V, Urtizberea A, Ben Yaou R, de Visser M, van der Kooi AJ, Bonnemann C, Iannaccone ST, Merlini L, Bushby K, Muntoni F, Bertini E, Chu ML, Pepe G. Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. Neurology. 2005 Jun 14;64(11):1931-7.
  235. van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabe D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet. 2005 Dec;42(12):907-12.
  236. Giannini S, Ceccarelli F, Faldini C, Pagkrati S, Merlini L. Surgical treatment of neck hyperextension in myopathies.Clin Orthop Relat Res. 2005 May;(434):151-6.
  237. Cenni V, Sabatelli P, Mattioli E, Marmiroli S, Capanni C, Ognibene A, Squarzoni S, Maraldi NM, Bonne G, Columbaro M, Merlini L, Lattanzi G. Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy. J Med Genet. 2005 Mar;42(3):214-20.
  238. Merlini L, Sabatelli P, Columbaro M, Bonifazi E, Pisani V, Massa R, Novelli G. Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2. Muscle Nerve. 2005 Jun;31(6):764-7.
  239. Saenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, Camano P, Urtasun M, Vilchez J, Gutierrez-Rivas E, Emparanza J, Merlini L, Paisan C, Goicoechea M, Blazquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan JC, Urtizberea JA, Marti-Masso JF, Lopez de Munain A. LGMD2A: genotype-phenotype correlations based on a large mutational survey onthe calpain 3 gene. Brain. 2005 Apr;128(Pt 4):732-42.
  240. Rimessi P, Gualandi F, Duprez L, Spitali P, Neri M, Merlini L, Calzolari E, Muntoni F, Ferlini A. Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation. Am J Med Genet A. 2005 Feb 1;132(4):391-4.
  241. Kalaydjieva L, Lochmuller H, Tournev I, Baas F, Beres J, Colomer J, Guergueltcheva V, Herrmann R, Karcagi V, King R, Miyata T, Mullner-Eidenbock A, Okuda T, Milic Rasic V, Santos M, Talim B, Vilchez J, Walter M, Urtizberea A, Merlini L. 125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands. Neuromuscul Disord. 2005 Jan;15(1):65-71.
  242. Squarzoni S, Sabatelli P, Bergamin N, Guicheney P, Demir E, Merlini L, Lattanzi G, Ognibene A, Capanni C, Mattioli E, Columbaro M, Bonaldo P, Maraldi NM. Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains. J Cell Physiol. 2006 Jan;206(1):160-6.
  243. Maraldi NM, Lattanzi G, Capanni C, Columbaro M, Merlini L, Mattioli E, Sabatelli P, Squarzoni S, Manzoli FA. Nuclear envelope proteins and chromatin arrangem ent: a pathogenic mechanism for laminopathies. Eur J Histochem. 2006 Jan-Mar;50(1):1-8.
  244. van Reeuwijk J, Maugenre S, van den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, van Bokhoven H. The expanding phenotype of mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum Mutat. 2006 Mar 30;27(5):453-459 [Epub ahead of print]
  245. Montalvo AL, Bembi B, Donnarumma M, Filocamo M, Parenti G, Rossi M, Merlini L, Buratti E, De Filippi P, Dardis A, Stroppiano M, Ciana G, Pittis MG. Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. Hum Mutat. 2006 Aug 17;27(10):999-1006 [Epub ahead of print]
  246. Giannini S, Faldini C, Pagkrati S, Grandi G, Romagnoli M, Merlini L. Surgical treatment of neck hyperextension in duchenne muscular dystrophy by posterior interspinous fusion. Spine. 2006 Jul 15;31(16):1805-9.
  247. Giannini S, Ceccarelli F, Faldini C, Pagkrati S, Merlini L. Scapulopexy of winged scapula secondary to facioscapulohumeral muscular dystrophy. Clin Orthop Relat Res. 2006 Aug;449:288-94.
  248. Vazza G, Merlini L, Bertolin C, Zortea M, Mostacciuolo ML. A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset. Neuromuscul Disord. 2006 Oct 16; [Epub ahead of print]
  249. Stum M, Davoine CS, Vicart S, Guillot-Noel L, Topaloglu H, Carod-Artal FJ, Kayserili H, Hentati F, Merlini L, Urtizberea JA, Hammouda el-H, Quan PC, Fontaine B, Nicole S. Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome. Hum Mutat. 2006 Nov;27(11):1082-91.
  250. van der Kooi AJ, de Voogt WG, Bertini E, Merlini L, Talim FB, Ben Yaou R, Urtziberea A, de Visser M. Cardiac and pulmonary investigations in Bethlem myopathy. Arch Neurol. 2006 Nov;63(11):1617-21.
  251. Benedetti S, Menditto I, Degano M, Rodolico C, Merlini L, D'Amico A, Palmucci L, Berardinelli A, Pegoraro E, Trevisan CP, Morandi L, Moroni I, Galluzzi G, Bertini E, Toscano A, Olive M, Bonne G, Mari F, Caldara R, Fazio R, Mammi I, Carrera P, Toniolo D, Comi G, Quattrini A, Ferrari M, Previtali SC. Phenotypic clustering of lamin A/C mutations in neuromuscular patients. Neurology. 2007, Sept 69(12):1285-92.
  252. Angelin A, Tiepolo T, Sabatelli P, Grumati P, Bergamin N, Golfieri C, Mattioli E, Gualandi F, Ferlini A, Merlini L, Maraldi NM, Bonaldo P, Bernardi P. Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci U S A. 2007 Jan 16;104(3):991-6.
  253. Barankova L, Vyhnalkova E, Zuchner S, Mazanec R, Sakmaryova I, Vondracek P, Merlini L, Bojar M, Nelis E, De Jonghe P, Seeman P. GDAP1 mutations in Czech families with early-onset CMT. Neuromuscul Disord. 2007 Jun;17(6):482-9. Epub 2007 Apr 11
  254. Krause S., Aleo A., Hinderlich S., Merlini L., Tournev I., Walter M. C., Argov Z., Mitrani-Rosenbaum S., and Lochmüller H. GNE protein expression and subcellular distribution are unaltered in HIBM.Neurology, Aug 2007; 69: 655 - 659.
  255. Neri M, Torelli S, Brown S, Ugo I, Sabatelli P, Merlini L, Spitali P, Rimessi P, Gualandi F, Sewry C, Ferlini A, Muntoni F. Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. Neuromuscul Disord. 2007 Sep 6;
  256. Giannini S, Faldini C, Pagkrati S, Grandi G, Digennaro V, Luciani D, Merlini L. Fixation of winged scapula in facioscapulohumeral muscular dystrophy. Clin Med Res. 2007 Sep;5(3):155-62.
  257. Manya H, Bouchet C, Yanagisawa A, Vuillaumier-Barrot S, Quijano-Roy S, Suzuki Y, Maugenre S, Richard P, Inazu T, Merlini L, Romero NB, Leturcq F, Bezier I, Topaloglu H, Estournet B, Seta N, Endo T, Guicheney P. Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies. Neuromuscul Disord. 2008 Jan;18(1):45-51.
  258. Merlini L. Marinesco-Sjogren syndrome, Fanfare, and more. Neuromuscul Disord. 2008 Feb;18(2):185-8.
  259. Merlini L, Angelin A, Tiepolo T, Braghetta P, Sabatelli P, Zamparelli A, Ferlini A, Maraldi NM, Bonaldo P, Bernardi P. Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. Proc Natl Acad Sci U S A. 2008 Apr 1;105(13):5225-9.
  260. Dierick I, Baets J, Irobi J, Jacobs A, Vriendt ED, Deconinck T, Merlini L, Van den Bergh P, Rasic VM, Robberecht W, Fischer D, Morales RJ, Mitrovic Z, Seeman P, Mazanec R, Kochanski A, Jordanova A, Auer-Grumbach M, Helderman-van den Enden AT,Wokke JH, Nelis E, De Jonghe P, Timmerman V. Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.Brain. 2008 May;131(Pt 5):1217-27.
  261. Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P. Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology. 2008 Oct 14;71(16):1245-53.
  262. Merlini L, Bernardi P. Therapy of Collagen VI-Related Myopathies (Bethlem and Ullrich). NeurotherapeuticsOctober 2008 (Vol. 5, Issue 4, Pages 613-618).
  263. Bovolenta M, Neri M, Fini S, Fabris M, Trabanelli C, Venturoli A, Martoni E, Bassi E, Spitali P, Brioschi S, Falzarano MS, Rimessi P, Ciccone R, Ashton E, McCauley J, Yau S, Abbs S, Muntoni F, Merlini L, Gualandi F, Ferlini A. A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC Genomics. 2008 Nov 28;9(1):572.
  264. Merlini L, Kishnani P, Byrne B, Müller-Felber W, Case L, Ploeg A. The pompe registry: centralized data collection to track the natural course of pompe disease. Clin Ther. 2008;30 Suppl 1:S24.
  265. Bernardi P, Bonaldo P, Maraldi NM, Merlini L, Sabatelli P.On the pathogenesis of collagen VI muscular dystrophies--Comment on article of Hicks et al. Brain. 2009 Oct;132(Pt 10):e121; author reply e122. Epub 2009 Mar 17.
  266. Rimessi P, Sabatelli P, Fabris M, Braghetta P, Bassi E, Spitali P, Vattemi G, Tomelleri G, Mari L, Perrone D, Medici A, Neri M, Bovolenta M, Martoni E, Maraldi NM, Gualandi F, Merlini L, Ballestri M, Tondelli L, Sparnacci K, Bonaldo P,Caputo A, Laus M, Ferlini A. Cationic PMMA Nanoparticles Bind and Deliver Antisense Oligoribonucleotides Allowing Restoration of Dystrophin Expression in the mdx Mouse. Mol Ther. 2009 May;17(5):820-7.
  267. Maraldi NM, Sabatelli P, Columbaro M, Zamparelli A, Manzoli FA, Bernardi P,Bonaldo P, Merlini L. Collagen VI myopathies: From the animal model to the clinical trial. Advances in enzyme regulation 2009;49(1):197-211.
  268. Gualandi F, Neri M, Bovolenta M, Martoni E, Rimessi P, Fini S, Spitali P, Fabris M, Pane M, Angelini C, Mora M, Morandi L, Mongini T, Bertini E, Ricci E, Vattemi G, Mercuri E, Merlini L, Ferlini A. Transcriptional behavior of DMD gene duplications in DMD/BMD males. Hum Mutat. 2009 Feb;30(2):E310-9.
  269. Capanni C, Del Coco R, Mattioli E, Camozzi D, Columbaro M, Schena E, Merlini L, Squarzoni S, Maraldi NM, Lattanzi G.Emerin-prelamin A interplay in human fibroblasts. Biol Cell. 2009 Sep;101(9):541-54.
  270. Martoni E, Urciuolo A, Sabatelli P, Fabris M, Bovolenta M, Neri M, Grumati P, D'Amico A, Pane M, Mercuri E, Bertini E, Merlini L, Bonaldo P,Ferlini A, Gualandi F. Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy. Hum Mutat. 2009 May;30(5):E662-72. PubMed PMID: 19309692.
  271. Merlini L. Selectivity of muscle sparing in Emery-Dreifuss muscular dystrophy. Neuromuscul Disord, 2009:19;500-501
  272. Tiepolo T, Angelin A, Palma E, Sabatelli P, Merlini L, Nicolosi L, Finetti F, Braghetta P, Vuagniaux G, Dumont JM, Baldari C, Bonaldo P, Bernardi P. The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1 myopathic mice. Br J Pharmacol. 2009 Jul;157(6):1045-52.
  273. Spitali P, Rimessi P, Fabris M, Perrone D, Falzarano S, Bovolenta M, Trabanelli C, Mari L, Bassi E, Tuffery S, Gualandi F, Maraldi NM, Sabatelli-Giraud P, Medici A, Merlini L, Ferlini A. Exon skipping-mediated dystrophin reading frame restoration for small mutations. Hum Mutat. 2009;30,11,1527 – 1534
  274. Gualandi F, Urciuolo A, Martoni E, Sabatelli P, Squarzoni S, Bovolenta M,Messina S, Mercuri E, Franchella A, Ferlini A, Bonaldo P, Merlini L. Autosomal recessive Bethlem myopathy. Neurology. 2009 Dec 1;73(22):1883-91.
  275. Bovolenta M, Neri M, Martoni E, Urciuolo A, Sabatelli P, Fabris M, Grumati P, Mercuri E, Bertini E, Merlini L, Bonaldo P, Ferlini A, Gualandi F. Identificationof a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagenVI-related myopathies. BMC Med Genet. 2010 Mar 19;11(1):44. [Epub ahead of print]PubMed PMID: 20302629.
  276. Allamand V, Merlini L, Bushby K; on behalf of the Consortium for CollagenVI-related myopathies. 166th ENMC International Workshop on Collagen typeVI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands. Neuromuscular Disorders 20 (2010) 346–354.
  277. Ferlini A, Sabatelli P, Fabris M, Bassi E, Falzarano S, Vattemi G, Perrone D, Gualandi F, Maraldi NM, Merlini L, Sparnacci K, Laus M, Caputo A, Bonaldo P, Braghetta P, Rimessi P. Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP-AON complexes. Gene Ther. 2010 Mar;17(3):432-8. PubMed PMID: 19907501.
  278. Zimon M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, MerliniL, Hilton-Jones D, McEntagart M, Crosby AH, Barisic N, Boltshauser E, Shaw CE,Landouré G, Ludlow CL, Gaudet R, Houlden H, Reilly MM, Fischbeck KH, Sumner CJ,Timmerman V, Jordanova A, Jonghe PD. Dominant mutations in the cation channelgene transient receptor potential vanilloid 4 cause an unusual spectrum ofneuropathies. Brain. 2010 May 11. [Epub ahead of print] PubMed PMID: 20460441.
  279. Merlini L. Measuring muscle strength in clinical trials. Lancet Neurol. 2010 Dec;9(12):1146; author reply 1146-7. PubMed PMID: 21087735.
  280. Grumati P, Coletto L, Sabatelli P, Cescon M, Angelin A, Bertaggia E, Blaauw B,Urciuolo A, Tiepolo T, Merlini L, Maraldi NM, Bernardi P, Sandri M, Bonaldo P. Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. Nat Med. 2010 Nov;16(11):1313-20.
  281. Briñas L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Lacène E, Makri S, Ferreiro A, Maugenre S, Topaloglu H, Haliloglu G, Pénisson-Besnier I, Jeannet PY, Merlini L, Navarro C, Toutain A, Chaigne D, Desguerre I, de Die-Smulders C,Dunand M, Echenne B, Eymard B, Kuntzer T, Maincent K, Mayer M, Plessis G, Rivier F, Roelens F, Stojkovic T, Lía Taratuto A, Lubieniecki F, Monges S, Tranchant C, Viollet L, Romero NB, Estournet B, Guicheney P, Allamand V. Early onset collagen VI myopathies: Genetic and clinical correlations. Ann Neurol. 2010 Oct;68(4):511-20. PubMed PMID: 20976770.
  282. Sabatelli P, Gara SK, Grumati P, Urciuolo A, Gualandi F, Curci R, Squarzoni S, Zamparelli A, Martoni E, Merlini L, Paulsson M, Bonaldo P, Wagener R. Expression of the Collagen VI α5 and α6 Chains in Normal Human Skin and in Skin of Patients with Collagen VI-Related Myopathies. J Invest Dermatol. 2011 Jan;131(1):99-107.
  283. Mattioli E, Columbaro M, Capanni C, Maraldi NM, Cenni V, Scotlandi K, MarinoMT, Merlini L, Squarzoni S, Lattanzi G. Prelamin A mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscle. Cell Death Differ. 2011 Aug;18(8):1305-15.
  284. Modoni A, Dʼamico A, Dallapiccola B, Mereu ML, Merlini L, Pagliarani S,Pisaneschi E, Silvestri G, Torrente I, Valente EM, Lo Monaco M. Low-RateRepetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affectedby Recessive Myotonia Congenita. 2011 Feb;28(1):39-44.
  285. Byrne BJ, Kishnani PS, Case LE, Merlini L, Müller-Felber W, Prasad S, der Ploeg AV. Pompe disease: Design, methodology, and early findings from the Pompe Registry. Mol Genet Metab. 2011 May;103(1):1-11.
  286. Gualandi F, Curci R, Sabatelli P, Martoni E, Bovolenta M, Maraldi MN, Merlini L, Ferlini AA. Macrophages: A minimally invasive tool for monitoring collagen VI myopathies. Muscle Nerve. 2011 Jul;44(1):80-4.
  287. Merlini L, Sabatelli P, Armaroli A, Gnudi S, Angelin A, Grumati P, MicheliniME, Franchella A, Gualandi F, Bertini E, Maraldi NM, Ferlini A, Bonaldo P,Bernardi P. Cyclosporine a in Ullrich congenital muscular dystrophy: long-termresults. Oxid Med Cell Longev. 2011;2011:139194.
  288. Roberts M, Kishnani PS, van der Ploeg AT, Müller-Felber W, Merlini L, Prasad S, Case LE. The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry. Mol Genet Metab. 2011 Dec;104(4):574-82.
  289. Sabatelli P, Palma E, Angelin A, Squarzoni S, Urciuolo A, Pellegrini C, Tiepolo T, Bonaldo P, Gualandi F, Merlini L, Bernardi P, Maraldi NM. Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by Collagen VI myopathies. J Cell Physiol. 2012 Jul;227(7):2927-35.
  290. Sabatelli P, Gualandi F, Gara SK, Grumati P, Zamparelli A, Martoni E, Pellegrini C, Merlini L, Ferlini A, Bonaldo P, Maraldi NM, Paulsson M, Squarzoni S, Wagener R. Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis. Matrix Biol. 2012 Apr;31(3):187-96.
  291. Merlini L, Gennari M, Malaspina E, Cecconi I, Armaroli A, Gnudi S, Talim B,Ferlini A, Cicognani A, Franzoni E. Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients: 14-year follow-up. Muscle Nerve. 2012 Jun;45(6):796-802.
  292. Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J. Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat. 2012Jun;33(6):949-59.
  293. Brioschi S, Gualandi F, Scotton C, Armaroli A, Bovolenta M, Falzarano MS, Sabatelli P, Selvatici R, D'Amico A, Pane M, Ricci G, Siciliano G, Tedeschi S, Pini A, Vercelli L, De Grandis D, Mercuri E, Bertini E, Merlini L, Mongini T, Ferlini A. Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype. BMC Med Genet. 2012 Aug 16;13:73.
  294. Sabatelli P, Pellegrini C, Faldini C, Merlini L. Cytoskeletal and extracellular matrix alterations in limb girdle muscular dystrophy 2I muscle fibers. Neurol India. 2012 Sep-Oct;60(5):510-1. doi: 10.4103/0028-3886.103200.
  295. Bassi E, Falzarano S, Fabris M, Gualandi F, Merlini L, Vattemi G, Perrone D, Marchesi E, Sabatelli P, Sparnacci K, Laus M, Bonaldo P, Rimessi P, Braghetta P, Ferlini A. Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice. J Biomed Biotechnol. 2012;2012:897076. doi: 10.1155/2012/897076.
  296. Pellegrini C, Zulian A, Gualandi F, Manzati E, Merlini L, Michelini ME, Benassi L, Marmiroli S, Ferlini A, Sabatelli P, Bernardi P, Maraldi NM. Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy. J Cell Physiol. 2013 Jun;228(6):1323-31. doi: 10.1002/jcp.24290.
  297. Miscione MT, Bruno F, Ripamonti C, Nervuti G, Orsini R, Faldini C, Pellegrini M, Cocchi D, Merlini L. Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy. ScientificWorldJournal. 2013 Sep 12;2013:152684. doi: 10.1155/2013/152684.
  298. Di Martino A, Merlini L, Faldini C. Autoimmunity in intervertebral disc herniation: from bench to bedside. Expert Opin Ther Targets. 2013 Dec;17(12):1461-70. doi: 10.1517/14728222.2013.834330.
  299. Tagliavini F, Pellegrini C, Sardone F, Squarzoni S, Paulsson M, Wagener R, Gualandi F, Trabanelli C, Ferlini A, Merlini L, Santi S, Maraldi NM, Faldini C, Sabatelli P. Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. Biochim Biophys Acta. 2014 Sep;1842(9):1604-12. PubMed PMID: 24907562. PubMed Central PMCID: PMC4316388.
  300. Zulian A, Rizzo E, Schiavone M, Palma E, Tagliavini F, Blaauw B, Merlini L, Maraldi NM, Sabatelli P, Braghetta P, Bonaldo P, Argenton F, Bernardi P. NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models. Hum Mol Genet. 2014 Oct 15;23(20):5353-63. PubMed PMID: 24852368.
  301. Merlini L, Nishino I; Consortium for Autophagy in Muscular Dystrophies. 201st ENMC International Workshop: Autophagy in muscular dystrophies—translational approach, 1-3 November 2013, Bussum, The Netherlands. Neuromuscul Disord. 2014 Jun;24(6):546-61. doi: 10.1016/j.nmd.2014.03.009. Epub 2014 Mar 24. PubMed PMID: 24746377.
  302. Merlini L. A 19-year-old ambulant Duchenne patient with stunted growth on long-term corticosteroids. Neuromuscul Disord. 2014 May;24(5):417-8. doi: 10.1016/j.nmd.2014.02.006. Epub 2014 Feb 19. PubMed PMID: 24631208.
  303. Tagliavini F, Sardone F, Squarzoni S, Maraldi NM, Merlini L, Faldini C, Sabatelli P. Ultrastructural changes in muscle cells of patients with collagen VI-related myopathies. Muscles Ligaments Tendons J. 2014 Feb 24;3(4):281-6. eCollection 2013 Oct. PubMed PMID: 24596691; PubMed Central PMCID: PMC3940501.
  304. Groome JR, Lehmann-Horn F, Fan C, Wolf M, Winston V, Merlini L, Jurkat-Rott K. NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery. Brain. 2014 Apr;137(Pt 4):998-1008. doi: 10.1093/brain/awu015. Epub 2014 Feb 18. PubMed PMID: 24549961; PubMed Central PMCID: PMC3959555.
  305. Sardone F, Traina F, Tagliavini F, Pellegrini C, Merlini L, Squarzoni S, Santi S, Neri S, Faldini C, Maraldi N, Sabatelli P. Effect of mechanical strain on the collagen VI pericellular matrix in anterior cruciate ligament fibroblasts. J Cell Physiol. 2014 Jul;229(7):878-86. doi: 10.1002/jcp.24518. PubMed PMID: 24356950.
  306. Sorato, E., Menazza, S., Zulian, A., Sabatelli, P., Gualandi, F., Merlini, L., Bonaldo, P., Canton, M., Bernardi, P., Di Lisa, F. (2014). Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies. Free Radical Biology and Medicine. 2014 Oct;75:40-7. doi:10.1016/j.freeradbiomed.2014.07.006. PubMed PMID: 25017965; PubMed Central PMCID: PMC4180008.
  307. Merlini Luciano and Nadir Mario Maraldi. "Emery-Dreifuss Muscular Dystrophy." Neuromuscular Disorders in Clinical Practice. Springer New York, 2014. 1285-1293.
  308. Sabatelli P, Castagnaro S, Tagliavini F, Chrisam M, Sardone F, Demay L,Richard P, Santi S, Maraldi NM, Merlini L, Sandri M, Bonaldo P.Aggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndromeand a p.C150R Mutation in FHL1 Gene. Front Aging Neurosci. 2014 Aug 19;6:215.doi: 10.3389/fnagi.2014.00215. eCollection 2014. PubMed PMID: 25191266; PubMedCentral PMCID: PMC4137286.
  309. Sanzarello I, Merlini L, Traina F, Rosa MA, and Faldini C. Corticosteroid Treatment Impact on Spinal Deformity in Duchenne Muscular Dystrophy. International Scholarly Research Notices, vol. 2014, Article ID 965235, 9 pages, 2014. doi:10.1155/2014/965235
  310. Zulian, A., Tagliavini, F., Rizzo, E., Pellegrini, C., Sardone, F., Zini, N., Maraldi, N.M., Santi, S., Faldini, C., Merlini, L., Petronilli, V., Bernardi, P., Sabatelli, P., 2014. Melanocytes from patients affected by Ullrich congenital muscular dystrophy and Bethlem myopathy have dysfunctional mitochondria that can be rescued with cyclophilin inhibitors. Frontiers in Aging Neuroscience6.
  311. Merlini L, Vagheggini A, Cocchi D. Sarcopenia and sarcopenic obesity in patients with muscular dystrophy. Front Aging Neurosci. 2014 Oct 7;6:274. doi: 10.3389/fnagi.2014.00274. eCollection 2014. PubMed PMID: 25339901; PubMed Central PMCID: PMC4188124.
  312. Toni S, Morandi R, Busacchi M, Tardini L, Merlini L, Battistini N andPellegrini M (2014) Nutritional status evaluation in patientsaffected by Bethlem Myopathy and Ullrich Congenital MuscularDystrophy. Front. Aging Neurosci. 6:315.doi:10.3389/fnagi.2014.00315. eCollection 2014. PubMed PMID: 25477818; PubMed Central PMCID: PMC4235079.
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  315. Citterio A, Arnoldi A, Panzeri E, Merlini L, D'Angelo MG, Musumeci O, Toscano A, Bondi A, Martinuzzi A, Bresolin N, Bassi MT. Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. J Neurol. 2015 Dec;262(12):2684-90. doi: 10.1007/s00415-015-7899-9. Epub 2015 Sep 26. PubMed PMID: 26410750.
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  317. Merlini L, Sabatelli P. Improving clinical trial design for Duchenne muscular dystrophy. BMC Neurol. 2015 Aug 26;15:153. doi: 10.1186/s12883-015-0408-z. PubMed PMID: 26306629; PubMed Central PMCID: PMC4549867
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  319. Castagnaro S, Pellegrini C, Pellegrini M, Chrisam M, Sabatelli P, Toni S, Grumati P, Ripamonti C, Pratelli L, Maraldi NM, Cocchi D, Righi V, Faldini C, Sandri M, Bonaldo P, Merlini L. Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial. Autophagy. 2016 Sep 22:1-12. [Epub ahead of print] PubMed PMID: 27656840.
  320. Sardone F, Traina F, Bondi A, Merlini L, Santi S, Maraldi NM, Faldini C, Sabatelli P. Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy. Front Aging Neurosci. 2016 Jun 8;8:131. doi: 10.3389/fnagi.2016.00131. PubMed PMID: 27375477; PubMed Central PMCID: PMC4896961.
  321. Sanzarello I, Merlini L, Rosa MA, Perrone M, Frugiuele J, Borghi R, Faldini C. Central sensitization in chronic low back pain: A narrative review. J Back Musculoskelet Rehabil. 2016 Nov 21;29(4):625-633.
  322. Scotton C, Bovolenta M, Schwartz E, Falzarano MS, Martoni E, Passarelli C, Armaroli A, Osman H, Rodolico C, Messina S, Pegoraro E, D'Amico A, Bertini E, Gualandi F, Neri M, Selvatici R, Boffi P, Maioli MA, Lochmüller H, Straub V, Bushby K, Castrignanò T, Pesole G, Sabatelli P, Merlini L, Braghetta P, Bonaldo P, Bernardi P, Foley R, Cirak S, Zaharieva I, Muntoni F, Capitanio D, Gelfi C, Kotelnikova E, Yuryev A, Lebowitz M, Zhang X, Hodge BA, Esser KA, Ferlini A. Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy. J Cell Sci. 2016 Apr 15;129(8):1671-84. doi: 10.1242/jcs.175927. PubMed PMID: 26945058; PubMed Central PMCID: PMC4852766.
  323. Klionsky DJ, …., Merlini L, …, et al. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy. 2016 Jan 2;12(1):1-222. PubMed PMID: 26799652.
  324. Sardone F, Santi S, Tagliavini F, Traina F, Merlini L, Squarzoni S, Cescon M, Wagener R, Maraldi NM, Bonaldo P, Faldini C, Sabatelli P. Collagen VI-NG2 axis inhuman tendon fibroblasts under conditions mimicking injury response. Matrix Biol.2016 Sep;55:90-105. doi: 10.1016/j.matbio.2016.02.012. PubMed PMID: 26944560.
  325. Sabatelli P, Sardone F, Traina F, Merlini L, Santi S, Wagener R, Faldini C.TGF-β1 differentially modulates the collagen VI α5 and α6 chains in human tendon cultures. J Biol Regul Homeost Agents. 2016 Oct-Dec;30(4 Suppl 1):107-113. PubMedPMID: 28002907.
  326. Merlini L, Faldini C, Bonaldo P. Editorial: Muscle-Tendon-Innervation Unit: Degeneration and Aging—Pathophysiological and Regeneration Mechanisms. Frontiers in Aging Neuroscience, 2016; 8:320 DOI=10.3389/fnagi.2016.00320ISSN=1663-4365
  327. Boriani F, Granchi D, Roatti G, Merlini L, Sabattini T, Baldini N. Alpha-lipoic Acid After Median Nerve Decompression at the Carpal Tunnel: A Randomized Controlled Trial. J Hand Surg Am. 2017 Feb 26. pii: S0363-5023(17)30084-9. doi: 10.1016/j.jhsa.2017.01.011. [Epub ahead of print] PubMed PMID: 28249792.
  328. Lehmann-Horn F, D'Amico A, Bertini E, Lomonaco M, Merlini L, Nelson KR, Philippi H, Siciliano G, Spaans F, Jurkat-Rott K. Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life. Acta Myol. 2017 Sep 1;36(3):125-134. eCollection 2017 Sep. PubMed PMID: 29774303; PubMed Central PMCID: PMC5953224.
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  330. Schiavone M, Zulian A, Menazza S, Petronilli V, Argenton F, Merlini L, Sabatelli P, Bernardi P. Alisporivir rescues defective mitochondrial respiration in Duchenne muscular dystrophy. Pharmacol Res. 2017 Nov;125(Pt B):122-131. doi: 10.1016/j.phrs.2017.09.001. Epub 2017 Sep 9. PubMed PMID: 28899790.
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  334. Bolduc Véronique, A. Reghan Foley, Herimela Solomon-Degefa, Apurva Sarathy, Sandra Donkervoort, Ying Hu, Grace S. Chen, Katherine Sizov, Matthew Nalls, Haiyan Zhou, Sara Aguti, Beryl B. Cummings, Monkol Lek, Taru Tukiainen, Jamie L. Marshall, Oded Regev, Dina Marek-Yagel, Anna Sarkozy, Russell J. Butterfield, Cristina Jou, Cecilia Jimenez-Mallebrera, Yan Li, Corine Gartioux, Kamel Mamchaoui, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Eric Hanssen, the COL6A1 Intron 11 Study Group: (Enrico S. Bertini, Mary-Lynn Chu, James Collins, Giacomo Comi, Sidney M. Gospe, Carla Grosmann, Janbernd Kirschner, Brian D. Kossak, Baiba Lace, Meganne E. Leach, Edward Leung, Luciano Merlini, Pinki Munot, Andrés Nascimento Osorio, Yoram Nevo, Ishizo Nishino, Susana Quijano-Roy, Randal Richardson, Monique M. Ryan, Mena Scavina, Mordechai Shohat, Tanya Stojkovic, Mónica Troncoso, and Grace Yoon), Steve D. Wilton, Shireen R. Lamandé, Daniel G. MacArthur, Raimund Wagener, Francesco Muntoni, and Carsten G. Bönnemann. A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. JCI Insight. 2019 Mar 21;4(6). pii: 124403. doi: 10.1172/jci.insight.124403.
  335. Merlini L, Sabatelli P, Antoniel M, Carinci V, Niro F, Monetti G, Torella A,Giugliano T, Faldini C, Nigro V. Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation. Skelet Muscle. 2019 May 27;9(1):14. doi: 10.1186/s13395-019-0199-9. PubMed PMID: 31133047.
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