Hélène Beauvais‐Dzugan

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series

Justine Lerat, Corinne Magdelaine, Anne‐Françoise Roux et al. · Molecular Genetics & Genomic Medicine · 2019 · 22 citations · Full text

Medicine, Molecular Medicine, Neurology +17

A novel pathogenic variant of <i>NEFL</i> responsible for deafness associated with peripheral neuropathy discovered through next‐generation sequencing and review of the literature

Justine Lerat, Corinne Magdelaine, Hélène Beauvais‐Dzugan et al. · Journal of the Peripheral Nervous System · 2019 · 16 citations

Medicine, Genetics, Neurology +17

New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient

Justine Lerat, Corinne Magdelaine, Paco Derouault et al. · Molecular Genetics & Genomic Medicine · 2019 · 10 citations · Full text

Life Sciences, Genetics, Neurology +17

Clinical features of homozygous FIG4‐p.Ile41Thr Charcot‐Marie‐Tooth 4J patients

Maxime Lafontaine, Anne‐Sophie Lia, Sylvie Bourthoumieu et al. · Annals of Clinical and Translational Neurology · 2021 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14