Massimo Pandolfo
Massimo Pandolfo
Professor of Neurology, Université Libre de Bruxelles
Email verificata su ulb.ac.be
Titolo
Citata da
Citata da
Anno
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
27251996
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
11442006
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
9671997
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
8552011
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
7681997
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
5972015
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
5812012
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
4672004
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
4642012
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
4162014
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
4061999
Friedreich ataxia: the clinical picture
M Pandolfo
Journal of neurology 256 (1), 3-8, 2009
3412009
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
3241999
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
3211998
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
3012018
Friedreich ataxia
M Pandolfo
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric …, 2020
290*2020
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
2751997
Depression in cancer patients: a critical review
M Pasquini, M Biondi
Clinical Practice and epidemiology in mental health 3 (1), 2, 2007
2612007
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
2521993
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, 2013
2512013
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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