Kolexia
Bedat-Millet Anne-Laure
Neurologie
Hôpital Charles Nicolle
Rouen, France
45 Activités
0 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Maladies musculaires Glycogénose de type II Atrophie Amyotrophie Ataxie Dystrophies musculaires Neuropathies périphériques Dystrophies musculaires des ceintures Amyotrophie spinale

Industries

LFB
5 collaboration(s)
Dernière en 2021
Pfizer
3 collaboration(s)
Dernière en 2023
Biogen
2 collaboration(s)
Dernière en 2023
B3TSI
2 collaboration(s)
Dernière en 2023

Dernières activités

Neurodystrophic hand dermatitis - Sannino-Barduagni syndrome.
Revue neurologique   03 février 2024
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.
Orphanet journal of rare diseases   24 janvier 2024
Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available.
European journal of neurology   28 novembre 2023
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.
Neurology. Genetics   17 juillet 2023
Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022.
Neurology   07 juillet 2023
CANVAS, a sensory neuronopathy to look for in ataxia.
Revue neurologique   08 juin 2023
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
European journal of neurology   04 avril 2023
Deep phenotyping of an international series of patients with late-onset dysferlinopathy.
European journal of neurology   01 avril 2021
A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency.
Journal of the neurological sciences   18 mars 2021
Association of fingerprint bodies with rods in a case with mutations in the LMOD3 gene.
Neuromuscular disorders : NMD   20 décembre 2019