Karima Ghorab

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

Johann Böhm, Frédéric Chevessier, Catherine Koch et al. · The American Journal of Human Genetics · 2013 · 213 citations · Full text

Medicine, Biophysics, Neurology +12

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

Céline Dogan, Marie De Antonio, Dalil Hamroun et al. · PLoS ONE · 2016 · 148 citations · Full text

Medicine, Genetics, Internal Medicine +15

An exploratory randomised double-blind and placebo-controlled phase 2 study of a combination of baclofen, naltrexone and sorbitol (PXT3003) in patients with Charcot-Marie-Tooth disease type 1A

Shahram Attarian, Jean‐Michel Vallat, Laurent Magy et al. · Orphanet Journal of Rare Diseases · 2014 · 124 citations · Full text

Medicine, Neurology, Pharmacology +15

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 2 Caused by Mitofusin 2 Mutations

Judith Calvo, Benoît Funalot, Robert Ouvrier et al. · Archives of Neurology · 2009 · 121 citations · Full text

Medicine, Genetics, Neurology +17

Heterogeneity of Polyneuropathy Associated with Anti-MAG Antibodies

Laurent Magy, Raphaël Kaboré, Stéphane Mathis et al. · Journal of Immunology Research · 2015 · 81 citations · Full text

Life Sciences, Immunology, Neurology +14