Kolexia
Ghorab Karima
Neurologie
Hôpital Dupuytren
Limoges, France
86 Activités
0 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Polyneuropathies Neuropathies périphériques Maladie de Charcot-Marie-Tooth Polyradiculonévrite inflammatoire démyélinisante chronique Maladies des dents Maladies musculaires Urgences Dystrophies musculaires Syndromes de compression nerveuse

Industries

B3TSI
143 collaboration(s)
Dernière en 2023
Schlesinger Group France
56 collaboration(s)
Dernière en 2023
EXAFIELD
47 collaboration(s)
Dernière en 2023
M3 Global Research Ltd
47 collaboration(s)
Dernière en 2023

Dernières activités

The detection of a two-exons-deletion in the ATL3 gene in a patient with sensory polyneuropathy
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
THE FIRST LARGE DELETION OF ATL3 IN A PATIENT PRESENTING WITH SENSORY POLYNEUROPATHY, DETECTED BY THE COVCOPCAN SOFTWARE.
2023 PNS Annual Meeting – Copenhagen, 17‐20 June 2023   09 octobre 2023
The First Large Deletion of Identified in a Patient Presenting with a Sensory Polyneuropathy.
Biomedicines   28 mai 2023
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology   04 août 2022
CIDP and hemopathies, an underestimated association.
Journal of the neurological sciences   25 août 2021
The Wide Spectrum of Pathophysiologic Mechanisms of Paraproteinemic Neuropathy.
Neurology   04 décembre 2020
A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.
European journal of medical genetics   16 septembre 2020
Dystrophie musculaire de Becker
HAS Publications   28 janvier 2020
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
Molecular genetics & genomic medicine   08 août 2019
A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature.
Journal of the peripheral nervous system : JPNS   26 février 2019