Massimo Pandolfo

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Victoria Campuzano, Laura Montermini, María Dolores Moltó et al. · Science · 1996 · 2.7K citations

Regulation of Mitochondrial Iron Accumulation by Yfh1p, a Putative Homolog of Frataxin

Michael Babcock, Deepika de Silva, Robert Oaks et al. · Science · 1997 · 918 citations

Iron Metabolism, Genetics, Putative Homolog +19

HLA-A*3101 and Carbamazepine-Induced Hypersensitivity Reactions in Europeans

Mark McCormack, Ana Alfirevic, Stéphane Bourgeois et al. · New England Journal of Medicine · 2011 · 899 citations · Full text

Siponimod versus placebo in secondary progressive multiple sclerosis (EXPAND): a double-blind, randomised, phase 3 study

Ludwig Kappos, Amit Bar‐Or, Bruce Cree et al. · The Lancet · 2018 · 896 citations

Neurological Disorder, Clinical Neurology, Clinical Trials +9

Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes

Victoria Campuzano, Laura Montermini, Yves Lutz et al. · Human Molecular Genetics · 1997 · 734 citations

Mitophagy, Pathology, Cell Death +16