A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD AE Renton, E Majounie, A Waite, J Simón-Sánchez, S Rollinson, ... Neuron 72 (2), 257-268, 2011 | 4777 | 2011 |
Exome sequencing reveals VCP mutations as a cause of familial ALS JO Johnson, J Mandrioli, M Benatar, Y Abramzon, VM Van Deerlin, ... Neuron 68 (5), 857-864, 2010 | 1445 | 2010 |
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study E Majounie, AE Renton, K Mok, EGP Dopper, A Waite, S Rollinson, ... The Lancet Neurology 11 (4), 323-330, 2012 | 1325 | 2012 |
Genome-wide analyses identify KIF5A as a novel ALS gene A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ... Neuron 97 (6), 1267-1288, 2018 | 592 | 2018 |
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis JO Johnson, EP Pioro, A Boehringer, R Chia, H Feit, AE Renton, ... Nature neuroscience 17 (5), 664-666, 2014 | 521 | 2014 |
CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis V Fridman, B Bundy, MM Reilly, D Pareyson, C Bacon, J Burns, J Day, ... Journal of Neurology, Neurosurgery & Psychiatry 86 (8), 873-878, 2015 | 338 | 2015 |
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 A Chiò, G Borghero, G Restagno, G Mora, C Drepper, BJ Traynor, ... Brain 135 (3), 784-793, 2012 | 232 | 2012 |
Intravenous immunoglobulin versus intravenous methylprednisolone for chronic inflammatory demyelinating polyradiculoneuropathy: a randomised controlled trial E Nobile-Orazio, D Cocito, S Jann, A Uncini, E Beghi, P Messina, ... The Lancet Neurology 11 (6), 493-502, 2012 | 226 | 2012 |
The prognosis and main prognostic indicators of Guillain-Barre syndrome A multicentre prospective study of 297 patients Italian Guillain-Barré Study Group Brain 119 (6), 2053-2061, 1996 | 216 | 1996 |
Heterogeneity of root and nerve ultrasound pattern in CIDP patients L Padua, G Granata, M Sabatelli, M Inghilleri, M Lucchetta, M Luigetti, ... Clinical Neurophysiology 125 (1), 160-165, 2014 | 191 | 2014 |
A genome-wide association study of myasthenia gravis AE Renton, HA Pliner, C Provenzano, A Evoli, R Ricciardi, MA Nalls, ... JAMA neurology 72 (4), 396-404, 2015 | 183 | 2015 |
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis S Bandres‐Ciga, AJ Noyce, G Hemani, A Nicolas, A Calvo, G Mora, ... Annals of neurology 85 (4), 470-481, 2019 | 167 | 2019 |
Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation A Chiò, G Restagno, M Brunetti, I Ossola, A Calvo, G Mora, M Sabatelli, ... Neurobiology of aging 30 (8), 1272-1275, 2009 | 161 | 2009 |
Randomised controlled trial of methotrexate for chronic inflammatory demyelinating polyradiculoneuropathy (RMC trial): a pilot, multicentre study RMC Trial Group The Lancet Neurology 8 (2), 158-164, 2009 | 161 | 2009 |
Genetic counselling in ALS: facts, uncertainties and clinical suggestions A Chiò, S Battistini, A Calvo, C Caponnetto, FL Conforti, M Corbo, ... Journal of Neurology, Neurosurgery & Psychiatry 85 (5), 478-485, 2014 | 153 | 2014 |
P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis A Conte, S Lattante, M Zollino, G Marangi, M Luigetti, A Del Grande, ... Neuromuscular Disorders 22 (1), 73-75, 2012 | 148 | 2012 |
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis A Chiò, JC Schymick, G Restagno, SW Scholz, F Lombardo, SL Lai, ... Human molecular genetics 18 (8), 1524-1532, 2009 | 147 | 2009 |
Atypical CIDP: diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database PE Doneddu, D Cocito, F Manganelli, R Fazio, C Briani, M Filosto, ... Journal of Neurology, Neurosurgery & Psychiatry 90 (2), 125-132, 2019 | 146 | 2019 |
Antibodies to neurofascin, contactin-1, and contactin-associated protein 1 in CIDP: clinical relevance of IgG isotype A Cortese, R Lombardi, C Briani, I Callegari, L Benedetti, F Manganelli, ... Neurology: Neuroimmunology & Neuroinflammation 7 (1), e639, 2019 | 144 | 2019 |
Rituximab in patients with chronic inflammatory demyelinating polyradiculoneuropathy: a report of 13 cases and review of the literature L Benedetti, C Briani, D Franciotta, R Fazio, I Paolasso, C Comi, ... Journal of Neurology, Neurosurgery & Psychiatry 82 (3), 306-308, 2011 | 144 | 2011 |