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mario sabatelli
mario sabatelli
Catholic University of Rome
在 unicatt.it 的电子邮件经过验证
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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
47772011
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
14452010
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
13252012
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
5922018
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
5212014
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
3382015
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
2322012
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
2262012
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
2161996
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
1912014
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
1832015
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
1672019
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
1612009
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
1612009
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
1532014
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
1482012
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
1472009
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
1462019
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
1442019
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
1442011
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