Recherche - Université de Limoges Accéder directement au contenu

Filtrer vos résultats

6 Résultats
Auteur : personID (entier) : 775516
Image document

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

Justine Lerat , Corinne Magdelaine , Anne‐françoise Roux , Léa Darnaud , Hélène Beauvais‐dzugan , et al.
Molecular Genetics & Genomic Medicine, 2019, 7 (9), pp.Université de Valence. ⟨10.1002/mgg3.839⟩
Article dans une revue hal-03271682v1

One Multilocus Genomic Variation Is Responsible for a Severe Charcot–Marie–Tooth Axonal Form

Federica Miressi , Corinne Magdelaine , Pascal Cintas , Sylvie Bourthoumieux , Angélique Nizou , et al.
Brain Sciences, 2020, 10 (12), pp.986. ⟨10.3390/brainsci10120986⟩
Article dans une revue hal-03402638v1
Image document

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

Celine Dogan , Marie de Antonio , Dalil Hamroun , Hugo Varet , Marianne Fabbro , et al.
PLoS ONE, 2016, 11 (2), pp.e0148264. ⟨10.1371/journal.pone.0148264⟩
Article dans une revue hal-01274908v1

Evaluation of the application of the European guidelines for diagnosis and clinical care of Amyotrophic Lateral Sclerosis.

Philippe Couratier , Ettore Beghi , Christophe Vial , Emilien Bernard , Géraldine Lautrette , et al.
The American Academy of Neurology 67th Annual Meeting, Apr 2015, Washington DC, United States. Neurology, 84 (14 (Suppl. P4)), pp.152
Poster de conférence hal-01224311v1

A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature

Justine Lerat , Pascal Cintas , Hélène Beauvais-Dzugan , Corinne Magdelaine , Franck Sturtz , et al.
Journal of the Peripheral Nervous System, 2017, 22 (2), pp.77-84. ⟨10.1111/jns.12216⟩
Article dans une revue hal-03333716v1

Effect of familial clustering in the genetic screening of 235 French ALS families

Philippe Corcia , William Camu , Celine Brulard , Sylviane Marouillat , Philippe Couratier , et al.
Journal of Neurology, Neurosurgery and Psychiatry, 2021, 92 (5), pp.479-484. ⟨10.1136/jnnp-2020-325064⟩
Article dans une revue hal-03369962v1