Kolexia
Mochel Fanny
Génétique médicale
Hôpital Pitie Salpetriere
Paris, France
245 Activités
0 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Ataxie Maladies rares Ataxie cérébelleuse Urgences Spasticité musculaire Maladie de Huntington Maladies mitochondriales Troubles de la motricité Paraplégie spasmodique héréditaire

Industries

Ultragenyx
13 collaboration(s)
Dernière en 2023
PTC Therapeutics
4 collaboration(s)
Dernière en 2020
ORCHARD THERAPEUTICS
2 collaboration(s)
Dernière en 2021
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{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society   09 mars 2024
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study.
Journal of neurology, neurosurgery, and psychiatry   21 février 2024
Démarche diagnostique devant une leucodystrophie métabolique de l’adulte
Pratique Neurologique - FMC   16 février 2024
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.
Orphanet journal of rare diseases   07 février 2024
Disease Progression in Women With X-linked Adrenoleukodystrophy: An Observational Study to Assess Disease Progression in Women With X-linked Adrenoleukodystrophy
Essai Clinique (Minoryx Therapeutics, S.L.)   29 janvier 2024
MATRIX - "Modeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia"
Essai Clinique (Assistance publique – Hôpitaux de Paris)   08 janvier 2024
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
EBioMedicine   26 décembre 2023
Advance: A Randomized, Double-blind, Placebo-controlled, Multinational, Multicenter Study With Open-label Treatment Extension to Assess the Effect of MIN-102 (IMP) on the Progression of Adrenomyeloneuropathy in Male Patients With X-linked Adrenoleukodystrophy
Essai Clinique (Minoryx Therapeutics, S.L.)   28 novembre 2023
CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers.
Molecular genetics and metabolism reports   21 novembre 2023
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Brain : a journal of neurology   28 septembre 2023