Fernande Gauthier‐Barichard

Genotype–phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations

Fabrice Cailloux, Fernande Gauthier‐Barichard, Corinne Mimault et al. · European Journal of Human Genetics · 2000 · 185 citations · Full text

Neurodegenerative Diseases, Mendelian Disorder, Brain Development +10

Novel missense mutation in <i>ALS2</i> gene results in infantile ascending hereditary spastic paralysis

Éléonore Eymard-Pierre, Koji Yamanaka, Martin Haeussler et al. · Annals of Neurology · 2006 · 68 citations

Screening for known mutations in EIF2Bgenes in a large panel of patients with premature ovarian failure

Anne Fogli, Fernande Gauthier‐Barichard, Raphael Schiffmann et al. · BMC Women s Health · 2004 · 57 citations · Full text

PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: identification of one partial triplication and two partial deletions of PLP1

Patricia Combes, Marie-Noelle Bonnet-Dupeyron, Fernande Gauthier‐Barichard et al. · Neurogenetics · 2006 · 24 citations

Partial Triplication, Genetics, Pathology +4

<i>Golli‐MBP</i> Copy Number Analysis by FISH, QMPSF and MAPH in 195 Patients with Hypomyelinating Leukodystrophies

Catherine Vaurs‐Barrière, M‐N. Bonnet‐Dupeyron, Patricia Combes et al. · Annals of Human Genetics · 2005 · 16 citations

Neurodegenerative Diseases, Urology, Myelin Formation +14