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Massimo Pandolfo
Massimo Pandolfo
Verified email at mcgill.ca
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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
V Campuzano, L Montermini, MD Molto, L Pianese, M Cossée, ...
Science 271 (5254), 1423-1427, 1996
32481996
Scale for the assessment and rating of ataxia: development of a new clinical scale
T Schmitz-Hubsch, ST Du Montcel, L Baliko, J Berciano, S Boesch, ...
Neurology 66 (11), 1717-1720, 2006
18862006
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
M Babcock, D de Silva, R Oaks, S Davis-Kaplan, S Jiralerspong, ...
Science 276 (5319), 1709-1712, 1997
10891997
HLA-A* 3101 and carbamazepine-induced hypersensitivity reactions in Europeans
M McCormack, A Alfirevic, S Bourgeois, JJ Farrell, D Kasperavičiūtė, ...
New England Journal of Medicine 364 (12), 1134-1143, 2011
10882011
Siponimod versus placebo in secondary progressive multiple sclerosis (EXPAND): a double-blind, randomised, phase 3 study
L Kappos, A Bar-Or, BAC Cree, RJ Fox, G Giovannoni, R Gold, ...
The Lancet 391 (10127), 1263-1273, 2018
9682018
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
V Campuzano, L Montermini, Y Lutz, L Cova, C Hindelang, S Jiralerspong, ...
Human molecular genetics 6 (11), 1771-1780, 1997
8991997
Common genetic variants influence human subcortical brain structures
DP Hibar, JL Stein, ME Renteria, A Arias-Vasquez, S Desrivières, ...
Nature 520 (7546), 224-229, 2015
8452015
Identification of common variants associated with human hippocampal and intracranial volumes
JL Stein, SE Medland, AA Vasquez, DP Hibar, RE Senstad, AM Winkler, ...
Nature genetics 44 (5), 552-561, 2012
7042012
The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data
PM Thompson, JL Stein, SE Medland, DP Hibar, AA Vasquez, ...
Brain imaging and behavior 8, 153-182, 2014
6682014
Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies
M Traylor, M Farrall, EG Holliday, C Sudlow, JC Hopewell, YC Cheng, ...
The Lancet Neurology 11 (11), 951-962, 2012
5832012
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
MC Moreira, S Klur, M Watanabe, AH Németh, IL Ber, JC Moniz, ...
Nature genetics 36 (3), 225-227, 2004
5752004
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes
M Cossée, A Dürr, M Schmitt, N Dahl, P Trouillas, P Allinson, M Kostrzewa, ...
Annals of Neurology: Official Journal of the American Neurological …, 1999
4841999
Friedreich ataxia: the clinical picture
M Pandolfo
Journal of neurology 256, 3-8, 2009
4482009
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
LM Dibbens, B De Vries, S Donatello, SE Heron, BL Hodgson, ...
Nature genetics 45 (5), 546-551, 2013
3862013
Sticky DNA: self-association properties of long GAA· TTC repeats in R· R· Y triplex structures from Friedreich’s ataxia
N Sakamoto, PD Chastain, P Parniewski, K Ohshima, M Pandolfo, ...
Molecular cell 3 (4), 465-475, 1999
3711999
Inhibitory effects of expanded GAA· TTC triplet repeats from Intron I of the Friedreich ataxia gene on transcription and replicationin vivo
K Ohshima, L Montermini, RD Wells, M Pandolfo
Journal of Biological Chemistry 273 (23), 14588-14595, 1998
3551998
Effect of natalizumab on disease progression in secondary progressive multiple sclerosis (ASCEND): a phase 3, randomised, double-blind, placebo-controlled trial with an open …
R Kapoor, PR Ho, N Campbell, I Chang, A Deykin, F Forrestal, N Lucas, ...
The Lancet Neurology 17 (5), 405-415, 2018
3362018
Novel genetic loci associated with hippocampal volume
DP Hibar, HHH Adams, N Jahanshad, G Chauhan, JL Stein, E Hofer, ...
Nature communications 8 (1), 13624, 2017
3052017
Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion
L Montermini, A Richeter, K Morgan, CM Justice, D Julien, B Castellotti, ...
Annals of Neurology: Official Journal of the American Neurological …, 1997
3031997
Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms
T Schmitz-Hubsch, M Coudert, P Bauer, P Giunti, C Globas, L Baliko, ...
Neurology 71 (13), 982-989, 2008
3022008
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