Massimo Pandolfo
Massimo Pandolfo
Professor of Neurology, Université Libre de Bruxelles
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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
Scale for the assessment and rating of ataxia: development of a new clinical scale
T Schmitz-Hübsch, ST Du Montcel, L Baliko, J Berciano, S Boesch, ...
Neurology 66 (11), 1717-1720, 2006
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
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
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
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
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
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
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
MC Moreira, S Klur, M Watanabe, AH Németh, I Le Ber, JC Moniz, ...
Nature genetics 36 (3), 225-227, 2004
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 (2), 153-182, 2014
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
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
Friedreich ataxia: the clinical picture
M Pandolfo
Journal of neurology 256 (1), 3-8, 2009
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
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
Friedreich ataxia
M Pandolfo
Archives of neurology 65 (10), 1296-1303, 2008
Depression in cancer patients: a critical review
M Pasquini, M Biondi
Clinical Practice and epidemiology in mental health 3 (1), 1-9, 2007
Safety, tolerability, and efficacy of TEV-48125 for preventive treatment of high-frequency episodic migraine: a multicentre, randomised, double-blind, placebo-controlled, phase …
ME Bigal, DW Dodick, AM Rapoport, SD Silberstein, Y Ma, R Yang, ...
The Lancet Neurology 14 (11), 1081-1090, 2015
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
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
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