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]
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, 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; Koppi, 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]
