Massimo Pandolfo
Massimo Pandolfo
Professor of Neurology, Université Libre de Bruxelles
Verified email at ulb.ac.be
TitleCited byYear
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
25861996
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
9882006
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
9321997
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
7972011
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
7281997
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
5172012
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
4982015
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
4332004
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
4302012
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
3791999
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
3312014
Friedreich ataxia: the clinical picture
M Pandolfo
Journal of neurology 256 (1), 3-8, 2009
3172009
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
3061998
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
3051999
Friedreich ataxia
M Pandolfo
Archives of neurology 65 (10), 1296-1303, 2008
2742008
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
2651997
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping
CB Hamida, N Doerflinger, S Belal, C Linder, L Reutenauer, C Dib, ...
Nature genetics 5 (2), 195-200, 1993
2431993
Rare deletions at 16p13. 11 predispose to a diverse spectrum of sporadic epilepsy syndromes
EL Heinzen, RA Radtke, TJ Urban, GL Cavalleri, C Depondt, AC Need, ...
The American Journal of Human Genetics 86 (5), 707-718, 2010
2382010
Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families
ML Moseley, KA Benzow, LJ Schut, TD Bird, CM Gomez, PE Barkhaus, ...
Neurology 51 (6), 1666-1671, 1998
2371998
Diagnosis and treatment of Friedreich ataxia: a European perspective
JB Schulz, S Boesch, K Bürk, A Dürr, P Giunti, C Mariotti, F Pousset, ...
Nature Reviews Neurology 5 (4), 222, 2009
2292009
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