Minikel, Eric Vallabh; Vallabh, Sonia M.; Lek, Monkol; Estrada, Karol; Samocha, Kaitlin E.; Sathirapongsasuti, J. Fah; Mclean, Cory Y.; Tung, Joyce Y.; Yu, Linda P. C.; Gambetti, Pierluigi; Blevins, Janis; Zhang, Shulin; Cohen, Yvonne; Chen, Wei; Yamada, Masahito; Hamaguchi, Tsuyoshi; Sanjo, Nobuo; Mizusawa, Hidehiro; Nakamura, Yosikazu; Kitamoto, Tetsuyuki; Collins, Steven J.; Boyd, Alison; Will, Robert G.; Knight, Richard; Ponto, Claudia; Zerr, Inga; Kraus, Theo F.J.; Eigenbrod, Sabina; Giese, Armin; Calero, Miguel; De Pedro-Cuesta, Jesús; Haïk, Stéphane; Laplanche, Jean-Louis; Bouaziz-Amar, Elodie; Brandel, Jean-Philippe; Capellari, Sabina; Parchi, Piero; Poleggi, Anna; Ladogana, Anna; O'Donnell-Luria, Anne H.; Karczewski, Konrad J.; Marshall, Jamie L.; Boehnke, Michael; Laakso, Markku; Mohlke, Karen L.; Kähler, Anna; Chambert, Kimberly; Mccarroll, Steven; Sullivan, Patrick F.; Hultman, Christina M.; Purcell, Shaun M.; Sklar, Pamela; Van Der Lee, Sven J.; Rozemuller, Annemieke; Jansen, Casper; Hofman, Albert; Kraaij, Robert; Van Rooij, Jeroen G. J.; Ikram, M. Arfan; Uitterlinden, André G.; Van Duijn, Cornelia M.; Daly, Mark J.; Macarthur, Daniel G., Quantifying prion disease penetrance using large population control cohorts, «SCIENCE TRANSLATIONAL MEDICINE», 2016, 8, Article number: 322ra9, pp. 9 - 20 [articolo]Open Access
Baiardi, Simone; Capellari, Sabina; Ladogana, Anna; Strumia, Silvia; Santangelo, Mario; Pocchiari, Maurizio; Parchi, Piero, Revisiting the Heidenhain Variant of Creutzfeldt-Jakob Disease: Evidence for Prion Type Variability Influencing Clinical Course and Laboratory Findings, «JOURNAL OF ALZHEIMER'S DISEASE», 2016, 50, pp. 465 - 476 [articolo]
Donadio, V; Liguori, R.; Incensi, A.; Chiaro, G.; Bartoletti-Stella, A.; Capellari, S.; Cortelli, P., Skin biopsy and microneurography disclose selective noradrenergic dysfunction due to dopamine-β-hydroxylase deficiency, «AUTONOMIC NEUROSCIENCE: BASIC & CLINICAL», 2016, 197, pp. 56 - 59 [articolo]
Bartoletti-Stella, Anna; Chiaro, Giacomo; Calandra-Buonaura, Giovanna; Contin, Manuela; Scaglione, Cesa; Barletta, Giorgio; Cecere, Annagrazia; Garagnani, Paolo; Tieri, Paolo; Ferrarini, Alberto; Piras, Silvia; Franceschi, Claudio; Delledonne, Massimo; Cortelli, Pietro; Capellari, Sabina, A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia, «JOURNAL OF NEUROLOGY», 2015, 262, pp. 2373 - 2381 [articolo]
Zanigni, Stefano; Terlizzi, Rossana; Tonon, Caterina; Testa, Claudia; Manners, David Neil; Capellari, Sabina; Gallassi, Roberto; Poda, Roberto; Gramegna, Laura Ludovica; Calandra-Buonaura, Giovanna; Sambati, Luisa; Cortelli, Pietro; Lodi, Raffaele, Brain magnetic resonance metabolic and microstructural changes in adult-onset autosomal dominant leukodystrophy, «BRAIN RESEARCH BULLETIN», 2015, 117, pp. 24 - 31 [articolo]
Garagnani P.; Terlizzi R.; Cevoli S.; Capellari S.; Pierangeli G.; Pirazzini C.; Bacalini M.G.; Franceschi C.; Cortelli P., Genomics and epigenomics, «THE JOURNAL OF HEADACHE AND PAIN», 2015, 16, Article number: A7, pp. N/A - N/A [articolo]
Bartoletti-Stella A; Gasparini L; Giacomini C; Corrado P; Terlizzi R; Giorgio E; Magini P; Seri M; Baruzzi A; Parchi P; Brusco A; Cortelli P; Capellari S, Messenger RNA processing is altered in autosomal dominant leukodystrophy, «HUMAN MOLECULAR GENETICS», 2015, 24, Article number: ddv034, pp. 2746 - 2756 [articolo]
Giannoccaro, M.P.; Donadio, V.; Incensi, A.; Pizza, F.; Cason, E.; Di Stasi, V.; Martinelli, P.; Scaglione, C.; Capellari, S.; Treglia, G.; Liguori, R., Skin biopsy and I-123 MIBG scintigraphy findings in idiopathic Parkinson's disease and parkinsonism: A comparative study, «MOVEMENT DISORDERS», 2015, 30, pp. 986 - 989 [articolo]
Elena Antelmi; Giovanni Rizzo; Margherita Fabbri; Sabina Capellari; Cesa Scaglione; Paolo Martinelli, Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?, «JOURNAL OF NEUROLOGY», 2014, 261, pp. 1803 - 1809 [articolo]
Cortelli, P.; Fabbri, M.; Calandra-Buonaura, G.; Capellari, S.; Tinuper, P.; Parchi, P.; Lugaresi, E., Gait disorders in fatal familial insomnia, «MOVEMENT DISORDERS», 2014, 29, pp. 420 - 424 [articolo]
Ferrera, D; Canale, C; Marotta, R; Mazzaro, N; Gritti, M; Mazzanti, M; Capellari, S; Cortelli, P; Gasparini, L, Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts, «THE FASEB JOURNAL», 2014, 28, pp. 3906 - 3918 [articolo]
Franco Cardone; Serena Principe; Maria Eugenia Schininà; Bruno Maras; Sabina Capellari; Piero Parchi; Silvio Notari; Laura Di Francesco; Anna Poleggi; Roberta Galeno; Ramona Vinci; Vittorio Mellina; Susanna Almonti; Anna Ladogana; Maurizio Pocchiari, Mutant PrPCJD prevails over wild-type PrPCJD in the brain of V210I and R208H genetic Creutzfeldt-Jakob disease patients, «BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS», 2014, 454, pp. 289 - 294 [articolo]
Wong TH;Chiu WZ;Breedveld GJ;Li KW;Verkerk AJ;Hondius D;Hukema RK;Seelaar H;Frick P;Severijnen LA;Lammers GJ;Lebbink JH;van Duinen SG;Kamphorst W;Rozemuller AJ;Bakker EB;Neumann M;Willemsen R;Bonifati V;Smit AB;van Swieten J;Netherlands Brain Bank;International Parkinsonism Genetics Network; Bonifati V; Breedveld GJ; Ferreira J; Correia Guedes L; Chien HF; Barbosa ER; Merola A; Zibetti M; Lopiano L; Tassorelli C; Pacchetti C; Nappi G; Riboldazzi G; Bono G; Padovani A; Borroni B; Fincati E; Bertolasi L; Tinazzi M; Bonizzato A; Dalla Libera A; Cortelli P; Capellari S; Guidi M; Marini P; Massaro F; Marconi R; Onofrj M; Thomas A; Vanacore N; Meco G; Fabbrini G; Fabrizio E; Manfredi M; Berardelli A; Stocchi F; Vacca L; De Mari M; Dell'Aquila C; Iliceto G; Lamberti P; Toni V; Trianni G; Saddi V; Cossu G; Melis M, PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology., «BRAIN», 2014, 137, pp. 1361 - 1373 [articolo]
V. Donadio;A. Incensi;V. Leta;M. P. Giannoccaro;C. Scaglione;P. Martinelli;S. Capellari;P. Avoni;A. Baruzzi;R. Liguori, Skin nerve α-synuclein deposits: a biomarker for idiopathic Parkinson disease., «NEUROLOGY», 2014, 82, pp. 1362 - 1369 [articolo]
D. Saverioni;S. Notari;S. Capellari;I. Poggiolini;A. Giese;H. A. Kretzschmar;P. Parchi, Analyses of Protease Resistance and Aggregation State of Abnormal Prion Protein across the Spectrum of Human Prions, «THE JOURNAL OF BIOLOGICAL CHEMISTRY», 2013, 288, pp. 27972 - 27985 [articolo]
