mario sabatelli
mario sabatelli
Catholic University of Rome
Verifierad e-postadress på unicatt.it
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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
33672011
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
11292010
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
9272012
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
3552014
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), 1268-1283. e6, 2018
2142018
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
1981996
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
1872012
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
1752015
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
1682012
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
1422009
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
1422009
Autosornal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: Clinical, electrophysiologic, and genetic aspects of a large family
A Quattrone, A Gambardella, F Bono, U Aguglia, A Bolino, AC Bruni, ...
Neurology 46 (5), 1318-1318, 1996
1361996
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
1322014
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
1312009
Pure motor chronic inflammatory demyelinating polyneuropathy
M Sabatelli, F Madia, T Mignogna, G Lippi, L Quaranta, P Tonali
Journal of neurology 248 (9), 772-777, 2001
1182001
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease
S Lattante, A Conte, M Zollino, M Luigetti, A Del Grande, G Marangi, ...
Neurology 79 (1), 66-72, 2012
1152012
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
1102011
An ALS-associated mutation in the FUS 3′-UTR disrupts a microRNA–FUS regulatory circuitry
SD Modigliani, M Morlando, L Errichelli, M Sabatelli, I Bozzoni
Nature communications 5 (1), 1-7, 2014
1062014
A nationwide retrospective analysis on the effect of immune therapies in patients with chronic inflammatory demyelinating polyradiculoneuropathy
D Cocito, I Paolasso, G Antonini, L Benedetti, C Briani, C Comi, R Fazio, ...
European journal of neurology 17 (2), 289-294, 2010
1032010
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
1022015
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