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 · 681 citations

Mendelian Disorder, Disease Mechanism, Genetic Disorder +9

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 · 352 citations

Allelic Disorders, Medicine, Genetics +8

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 · 267 citations · Full text

Genetics, Recessive Hypomyelinating Leukodystrophy, Molecular Biology +5

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 · 237 citations

Gene Therapies, Clinical Trials, Neurology +2

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

Rare Diseases, Amyotrophic Lateral Sclerosis, Genetic Disorder +7