Kolexia
Fournier Emmanuel
Médecine générale
Hôpital Pitie Salpetriere
Paris, France
98 Activités
52 Followers

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{{person.topmesh1.name}} Syndromes myasthéniques congénitaux Polyradiculonévrite inflammatoire démyélinisante chronique Maladies musculaires Canalopathies Paralysie Polyneuropathies Atrophie Amyotrophie Maladies du motoneurone

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Dernières activités

Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.
International journal of molecular sciences   11 novembre 2023
Older patients with COVID-19 and neuropsychiatric conditions: A study of risk factors for mortality.
Brain and behavior   10 novembre 2022
Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes.
Neuromuscular disorders : NMD   09 octobre 2022
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
Acta neuropathologica   10 août 2022
Poster No: 118a
Abstracts of the 2022 Peripheral Nerve Society Annual Meeting   11 juillet 2022
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.
European journal of neurology   04 mai 2022
CHANNELOPATHIES AND RELATED DISORDERS: EP.228 Efficacy and safety of mexiletine in non-dystrophic myotonias: a randomized, double-blind, placebo-controlled, cross-over study
Neuromuscular disorders : NMD   01 octobre 2021
CHANNELOPATHIES AND RELATED DISORDERS: EP.221 Diagnostic delay and atypical phenotypes in a French cohort of Andersen-Tawil syndrome
Neuromuscular disorders : NMD   01 octobre 2021
A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease.
Neuropathology and applied neurobiology   13 juillet 2021
Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study.
Neuromuscular disorders : NMD   27 juin 2021