Emmanuel J. Fournier
Paris, 75006, France
Last Updated: 09/26/2026
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Found 60 publications
Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.
Journal: International journal of molecular sciences
Published: September 29, 2023
Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes.
Journal: Neuromuscular disorders : NMD
Published: June 13, 2022
Older patients with COVID-19 and neuropsychiatric conditions: A study of risk factors for mortality.
Older patients with COVID-19 and neuropsychiatric conditions: A study of risk factors for mortality.
Journal: Brain and behavior
Published: February 27, 2022
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
Journal: Acta neuropathologica
Published: February 01, 2022
Phenotypical variability and atypical presentations in a French cohort of Andersen-Tawil syndrome.
Journal: European journal of neurology
Published: January 27, 2022
Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study.
Journal: Neuromuscular disorders : NMD
Published: March 30, 2021
A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease.
Journal: Neuropathology and applied neurobiology
Published: January 29, 2021
Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study.
Journal: Annals of clinical and translational neurology
Published: October 15, 2020
New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes.
Journal: Neurology. Genetics
Published: June 18, 2020
Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: March 06, 2020
Carpal tunnel syndrome: Rare causes and associated forms behind a common and stereotyped affection
Journal: La Revue de medecine interne
Published: November 13, 2019
Motor chronic inflammatory demyelinating polyneuropathy (CIDP) in 17 patients: Clinical characteristics, electrophysiological study, and response to treatment.
Journal: Journal of the peripheral nervous system : JPNS
Published: October 26, 2019
Last Updated: 09/26/2026