E. Giorgio;H. Rolyan;L. Kropp;A. B. Chakka;S. Yatsenko;E. D. Gregorio;D. Lacerenza;G. Vaula;F. Talarico;P. Mandich;C. Toro;E. E. Pierre;P. Labauge;S. Capellari;P. Cortelli;F. P. Vairo;D. Miguel;D. Stubbolo;L. C. Marques;W. Gahl;O. Boespflug-Tanguy;A. Melberg;S. Hassin-Baer;O. S. Cohen;R. Pjontek;A. Grau;T. Klopstock;B. Fogel;I. Meijer;G. Rouleau;J. L. Bouchard;M. Ganapathiraju;A. Vanderver;N. Dahl;G. Hobson;A. Brusco;A. Brussino;Q. S. Padiath, Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression., «HUMAN MUTATION», 2013, 34, pp. 1160 - 1171 [articolo]
La Morgia C.; Barboni P.; Rizzo G.; Carbonelli M.; Savini G.; Scaglione C.; Capellari S.; Bonazza S.; Giannoccaro M.P.; Calandra-Buonaura G.; Liguori R.; Cortelli P.; Martinelli P.; Baruzzi A.; Carelli V., Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern?, «EUROPEAN JOURNAL OF NEUROLOGY», 2013, 20, pp. 198 - 201 [articolo]
Marialuisa Quadri;Mingyan Fang;Marina Picillo;Simone Olgiati;Guido J. Breedveld;Josja Graafland;Bin Wu;Fengping Xu;Roberto Erro;Marianna Amboni;Sabina Pappatà;Mario Quarantelli;Grazia Annesi;Aldo Quattrone;Hsin F. Chien;Egberto R. Barbosa;Ben A. Oostra;Paolo Barone;Jun Wang;Vincenzo Bonifati; International Parkinsonism Genetics Network:Bonifati V; Maat-Kievit A; Rood J; Boon A; van de Warrenburg B;
Delnooz C; Rietveld A; Bloem B; Ferreira J; Correia Guedes L; Tolosa E; Janssens S; Emre M; Hanagasi H; Bilgic B; Elibol B; Socal M; Jardim L; Chien HF; Barbosa
ER; Lu CS; Wu-Chou YH; Yeh TH; Atadzhanov M; Kelly P; Lopiano L; Tassorelli C;
Pacchetti C; Nappi G; Riboldazzi G; Bono G; Padovani A; Borroni B; Raudino F; Di Fonzo A; Volonte A; Fincati E; Bertolasi L; Tinazzi M; Bonizzato A; Ferracci C;
Dalla Libera A; Cortelli P; Capellari S; Marini P; Massaro F; Federico A; Taglia I; Battisti C; Marconi R; Onofrj M; Thomas A; Vanacore N; Meco G; Fabbrini G;
Fabrizio E; Manfredi M; Berardelli A; Stocchi F; Vacca L; De Michele G; Criscuolo
C; Santoro L; Filla A; De Mari M; Dell C; Iliceto G; Lamberti P; Toni V; Trianni G; Gagliardi M; Annesi G; Quattrone A; Saddi V; Francesco S; Saddi V; Cossu G;
Melis M., Mutation in the SYNJ1Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism, «HUMAN MUTATION», 2013, 34, pp. 1208 - 1215 [articolo]
Martinelli P;Rizzo G;Scaglione C;Capellari S, Neurosyphilis orofacial dyskinesia: the candy sign., «MOVEMENT DISORDERS», 2013, 28, pp. 246 - 247 [replica/breve intervento]
P. Parchi;S. Capellari, Prion disease: diagnostic value of cerebrospinal fluid markers., «NATURE REVIEWS. NEUROLOGY», 2013, 9, pp. 10 - 11 [articolo]
Maria Gabriella Vita;Simona Gaudino;Daniela Giuda;Donato Sauchelli;Paolo Emilio Alboini;Emma Gangemi;Alessandra Bizzarro;Eugenia Scaricamazza;Sabina Capellari;Piero Parchi;Carlo Masullo, R208H-129VV haplotype in the prion protein gene: phenotype and neuroimaging of a patient with genetic Creutzfeldt-Jakob disease, «JOURNAL OF NEUROLOGY», 2013, 260, pp. 2650 - 2652 [articolo]
Metzger S;Walter C;Riess O;Roos RA;Nielsen JE;Craufurd D;Nguyen HP;REGISTRY Investigators of the European Huntington’s Disease Network:Bachoud-Lévi AC; Bentivoglio AR; Biunno I; Bonelli RM; Burgunder
JM; Dunnett SB; Ferreira JJ; Handley OJ; Heiberg A; Illmann T; Landwehrmeyer G;
Levey J; Ramos-Arroyo MA; Nielsen J; Koivisto SP; Päivärinta M; Roos RA;
Sebastián AR; Tabrizi S; Vandenberghe W; Verellen-Dumoulin C; Zaremba J; Uhrová
T; Wahlström J; Barth K; Correia-Guedes L; Finisterra AM; Garde MB; Bos R; Betz
S; Callaghan J; Fullam R; Ecker D; Nielsen MG; Handley OJ; Hvalstedt C; Held C;
Koppers K; Laurà M; Horta SM; Descals AM; Díaz MF; Mestre T; Minster S; Monza D; Mütze L; Oehmen M; Townhill J; Orth M; Padieu H; Paterski L; Peppa N; Koivisto
SP; Roedig V; Rialland A; Røren N; Šašinková P; Seliverstov Y; Cubillo PT; van
Walsem MR; Wright A; Silva WV; Witjes-Anné MN; Yudina E; Zielonka D; Zielonka E; Zinzi P; Bonelli RM; Herranhof B; Holl A; Kapfhammer HP; Koppitz M; Magnet M;
Otti D; Painold A; Reisinger K; Scheibl M; Hecht K; Lilek S; Müller N; Schöggl H;
Ullah J; Ribaï P; Verellen-Dumoulin C; Boogaerts A; Vandenberghe W; van Reijen D;
Klempíř J; Majerová V; Roth J; Nielsen J; Hjermind L; Jacobsen O; Vinthev-Jensen T; Larsen IU; Stockholm J; Hiivola H; Martikainen K; Tuuha K; Ignatius J; Kärppä M; Åman J; Mustonen A; Kajula O; Santala M; Allain P; Guérid MA; Gohier B;
Olivier A; Prundean A; Scherer-Gagou C; Verny C; Bost M; Babiloni B; Debruxelles S; Duché C; Goizet C; Lafoucrière D; Jameau L; Spampinato U; De Bruycker C;
Cabaret M; Carette AS; Defebvre L; Decorte E; Delval A; Delliaux M; Destee A;
Dujardin K; Peter M; Plomhouse L; Sablonnière B; Simonin C; Defebvre L; Lemaire
MH; Manouvrier S; Thibault-Tanchou S; Vuillaume I; Krystkowiak P; Duru C; Roussel
M; Wannepain S; Berrissoul H; Bellonet M; Courtin F; Mantaux B; Fasquel V;
Godefroy O; Azulay JP; Fluchère F; Delfini M; Eusebio A; Mundler L; Longato N;
Rudolf G; Steinmetz G; Tranchant C; Wagner C; Zimmermann MA; Marcel C; Andrich J;
Ellrichmann G; Hoffmann R; Kaminski B; Saft C; Stamm C; Boelmans K; Ganos C;
Goerendt I; Hidding U; Lewerenz J; Münchau A; Orth M; Schmalfeld J; Stubbe L;
Zittel S; Bürk K; Möller JC; Rissling I; Cormio C; Sciruicchio V; Serpino C; de
Tommaso M; Capellari S; Cortelli P; Gallassi R; Poda R; Rizzo G; Scaglione C;
Abbruzzese G; di Poggio MB; Di Maria E; Ferrandes G; Mandich P; Marchese R;
Albanese A; Di Bella D; Di Donato S; Gellera C; Genitrini S; Mariotti C; Monza D;
Nanetti L; Paridi D; Soliveri P; Tomasello C; Squitieri F; Elifani F; Maglione V;
Di Pardo A; Alberti S; Griguoli A; Amico E; Martino T; Petrollini M; Bentivoglio AR; Catalli C; Di Giacopo R; Fasano A; Frontali M; Guidubaldi A; Ialongo T;
Jacopini G; Loria G; Piano C; Chiara P; Quaranta D; Romano S; Soleti F; Spadaro
M; Zinzi P; van Hout MS; van Vugt JP; de Weert A; Bolwijn JJ; Dekker M; Leenders KL; Bos R; Dumas EM; van den Bogaard SJ; Roos RA; 't Hart EP; van Duijn E; Kremer
B; Verstappen CC; Blinkenberg EØ; Hauge E; Tyvoll H; Heiberg A; van Walsem MR;
Frich J; Aaserud O; Wehus R; Bjørgo K; Fannemel M; Gørvell P; Lorentzen E;
Koivisto SP; Retterstøl L; Overland T; Stokke B; Bjørnevoll I; Sando SB;
Dziadkiewicz A; Nowak M; Robowski P; Sitek E; Slawek J; Soltan W; Szinwelski M;
Blaszcyk M; Boczarska-Jedynak M; Ciach-Wysocka E; Gorzkowska A; Jasinska-Myga B; Opala G; Kłodowska-Duda G; Stompel D; Banaszkiewicz K; Boćwińska D; Szczudlik A; Rudzinska M; Wójcik M; Dec M; Krawczyk M; Bojakowska-Jaremek K; Szczygieł E;
Stenwak A; Wasielewska A; Bryl A; Ciesielska A; Klimberg A; Marcinkowski J;
Sempołowicz J; Zielonka D; Samara H; Wiśniewski B; Janik P; Gogol A; Kwiecinski
H; Jamrozik Z; Kaminska A; Antczak J; Jachinska K; Rakowicz M; Richter P; Rola R;
Ryglewicz D; Sienkiewicz-Jarosz H; Stępniak I; Witkowski G; Zdzienicka E; Zaremba
J; Sułek A; Krysa W; Stepniak I; Zieora-Jakutowicz K; Júlio F; Januá, The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients., «PLOS ONE», 2013, 8, Article number: e68951, pp. 1 - 9 [articolo]Open Access
Sambati L; Agati R; Bacci A; Bianchi S; Capellari S., Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course., «NEUROLOGICAL SCIENCES», 2013, Neurol Sci. 2013 Jul;34(7):1235-8. doi: 10.1007/s10072-012-1129-3, pp. 1135 - 1138 [articolo]
Quarrel O.W.; Handley O.; O'Donovan K.; Dumoulin C.; Ramos-Arroyo M.; Biunno I.; Bauer P.; Kline M.; Capellari S.; Cortelli P.; Gallassi R.; Landwehrmeyer G.B.; European Huntington's Disease Network., Discrepancies in reporting the CAG repeat lengths for Huntington's disease., «EUROPEAN JOURNAL OF HUMAN GENETICS», 2012, 20, pp. 20 - 26 [articolo]
Popova S.N.; Tarvainen I.; Capellari S.; Parchi P.; Hannikainen P.; Pirinen E.; Haapasalo H.; Alafuzoff I., Divergent clinical and neuropathological phenotype in a Gerstmann-Sträussler-Scheinker P102L family., «ACTA NEUROLOGICA SCANDINAVICA», 2012, 126, pp. 315 - 323 [articolo]
Martinelli P.; Scaglione C.; Rizzo G.; Capellari S., From Ritual Sword Duel to Electrophysiology: Hyperactive Facial Motor Nucleus in Hemifacial Spasm, «MOVEMENT DISORDERS», 2012, 27, pp. 927 - 928 [replica/breve intervento]
Jansen C.; Parchi P.; Capellari S.; Ibrahim-Verbaas C.A.; Schuur M.; Strammiello R.; Corrado P.; Bishop M.T.; van Gool W.A.; Verbeek M.M.; Baas F.; van Saane W.; Spliet W.G.; Jansen G.H.; van Duijn C.M.; Rozemuller A.J., Human prion diseases in the Netherlands (1998-2009): clinical, genetic and molecular aspects., «PLOS ONE», 2012, 7, Article number: e36333, pp. 1 - 10 [articolo]Open Access
Cortelli P.; Terlizzi R.; Capellari S.; Benarroch E., Nuclear lamins: Functions and clinical implications, «NEUROLOGY», 2012, 79, pp. 1726 - 1731 [articolo]
Durrenberger P.F.; Fernando F.S.; Magliozzi R.; Kashefi S.N.; Bonnert T.P.; Ferrer I.; Seilhean D.; Nait-Oumesmar B.; Schmitt A.; Gebicke-Haerter P.J.; Falkai P.; Grünblatt E.; Palkovits M.; Parchi P.; Capellari S.; Arzberger T.; Kretzschmar H.; Roncaroli F.; Dexter D.T.; Reynolds R., Selection of novel reference genes for use in the human central nervous system: a BrainNet Europe Study., «ACTA NEUROPATHOLOGICA», 2012, 124, pp. 893 - 903 [articolo]
Jansen C.; Parchi P.; Capellari S.; Strammiello R.; Dopper E.G.; van Swieten J.C.; Kamphorst W.; Rozemuller A.J., A second case of Gerstmann-Sträussler-Scheinker disease linked to the G131V mutation in the prion protein gene in a Dutch patient., «JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY», 2011, 70, pp. 698 - 702 [articolo]
