Hélène Beauvais-Dzugan

Affiliations

University of Limoges, MMNP, Limoges, France.
Service Biochimie et Génétique Moléculaire, CHU Limoges, Limoges, France.

Publications (4)

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

Molecular genetics & genomic medicine

Avec: Justine Lerat , Corinne Magdelaine , Anne-Françoise Roux , Léa Darnaud , Hélène Beauvais-Dzugan , Steven Naud , Laurence Richard , Paco Derouault , Karima Ghorab , Laurent Magy , Jean-Michel Vallat , Pascal Cintas , Eric Bieth , Marie-Christine Arne-Bes , Cyril Goizet , Caroline Espil-Taris , Hubert Journel , Annick Toutain , Jon Andoni Urtizberea , Odile Boespflug-Tanguy , Fanny Laffargue , Philippe Corcia , Laurent Pasquier , Mélanie Fradin , Sylva Napuri , Jonathan Ciron , Jean-Marc Boulesteix , Franck Sturtz , Anne-Sophie Lia

A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature.

Journal of the peripheral nervous system : JPNS

Avec: Justine Lerat , Corinne Magdelaine , Hélène Beauvais-Dzugan , Caroline Espil , Karima Ghorab , Philippe Latour , Paco Derouault , Franck Sturtz , Anne-Sophie Lia

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

Molecular genetics & genomic medicine

Avec: Justine Lerat , Corinne Magdelaine , Paco Derouault , Hélène Beauvais-Dzugan , Eric Bieth , Blandine Acket , Marie-Christine Arne-Bes , Franck Sturtz , Anne-Sophie Lia

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

Annals of clinical and translational neurology

Avec: Maxime Lafontaine , Anne-Sophie Lia , Sylvie Bourthoumieu , Hélène Beauvais-Dzugan , Paco Derouault , Marie-Christine Arné-Bes , Catherine Sarret , Fanny Laffargue , Armelle Magot , Franck Sturtz , Laurent Magy , Corinne Magdelaine

Réseau de co-auteurs

Corinne Magdelaine 4 collaborations

Paco Derouault 4 collaborations

Franck Sturtz 4 collaborations

Anne-Sophie Lia 4 collaborations

Justine Lerat 3 collaborations

Karima Ghorab 2 collaborations

Laurent Magy 2 collaborations

Eric Bieth 2 collaborations

Marie-Christine Arne-Bes 2 collaborations

Fanny Laffargue 2 collaborations

Anne-Françoise Roux 1 collaboration

Léa Darnaud 1 collaboration

Steven Naud 1 collaboration

Laurence Richard 1 collaboration

Jean-Michel Vallat 1 collaboration

Pascal Cintas 1 collaboration

Cyril Goizet 1 collaboration

Caroline Espil-Taris 1 collaboration

Hubert Journel 1 collaboration

Annick Toutain 1 collaboration

Jon Andoni Urtizberea 1 collaboration

Odile Boespflug-Tanguy 1 collaboration

Philippe Corcia 1 collaboration

Laurent Pasquier 1 collaboration

Mélanie Fradin 1 collaboration

Sylva Napuri 1 collaboration

Jonathan Ciron 1 collaboration

Jean-Marc Boulesteix 1 collaboration

Caroline Espil 1 collaboration

Philippe Latour 1 collaboration

Blandine Acket 1 collaboration

Maxime Lafontaine 1 collaboration

Sylvie Bourthoumieu 1 collaboration

Marie-Christine Arné-Bes 1 collaboration

Catherine Sarret 1 collaboration

Armelle Magot 1 collaboration