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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
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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.
Article dans une revue
hal-03402638v1
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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.
Article dans une revue
hal-01274908v1
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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
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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.
Article dans une revue
hal-03333716v1
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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.
Article dans une revue
hal-03369962v1
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