Odile Boespflug‐Tanguy

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

Michael Brenner, Odile Boespflug‐Tanguy, Diana Rodriguez et al. · Nature Genetics · 2001 · 686 citations

Life Sciences, Genetics, Neuroscience +10

X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus

Pascale Saugier-Véber, Arnold Münnich, Dominique Bonneau et al. · Nature Genetics · 1994 · 355 citations

Medicine, Neurology, Neuroscience +7

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Geneviève Bernard, Éliane Chouery, Maria Lisa Putorti et al. · The American Journal of Human Genetics · 2011 · 270 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial

Eugenio Mercuri, Francesco Muntoni, Giovanni Baranello et al. · The Lancet Neurology · 2021 · 256 citations

Medicine, Neurology, Neuroscience +12

Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene

Éléonore Eymard-Pierre, Gaëtan Lesca, Sandra Dollet et al. · The American Journal of Human Genetics · 2002 · 223 citations · Full text

Life Sciences, Genetics, Neurology +12