Karima Ghorab

2, Avenue Martin Luther King
Limoges, 87000, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 24 publications

Severe dilated cardiomyopathy in females with dystrophinopathy : a case series of nine patients.

Severe dilated cardiomyopathy in females with dystrophinopathy : a case series of nine patients.

Journal: Neuromuscular disorders : NMD

Published: February 20, 2026

Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry.

Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry.

Journal: Orphanet journal of rare diseases

Published: April 09, 2025

New double homozygous GDAP1 variations associated with polyneuropathy and prominent inflammatory features in unrelated individuals from Indian Ocean islands.

New double homozygous GDAP1 variations associated with polyneuropathy and prominent inflammatory features in unrelated individuals from Indian Ocean islands.

Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

Published: November 12, 2024

Spinal muscular atrophy is also a disorder of spermatogenesis.

Spinal muscular atrophy is also a disorder of spermatogenesis.

Journal: Orphanet journal of rare diseases

Published: May 29, 2024

Self-reported outcomes and quality of life of patients with non-dystrophic myotonia: The French IMPACT 2022 survey.

Self-reported outcomes and quality of life of patients with non-dystrophic myotonia: The French IMPACT 2022 survey.

Journal: Revue neurologique

Published: November 21, 2023

The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy.

The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy.

Journal: Biomedicines

Published: April 13, 2023

GM2 gangliosidosis AB variant: first case of late onset and review of the literature.

GM2 gangliosidosis AB variant: first case of late onset and review of the literature.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: February 28, 2022

CIDP and hemopathies, an underestimated association.

CIDP and hemopathies, an underestimated association.

Journal: Journal of the neurological sciences

Published: July 06, 2021

The Wide Spectrum of Pathophysiologic Mechanisms of Paraproteinemic Neuropathy.

The Wide Spectrum of Pathophysiologic Mechanisms of Paraproteinemic Neuropathy.

Journal: Neurology

Published: June 18, 2020

A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.

A novel pathogenic variant in DYNC1H1 causes various upper and lower motor neuron anomalies.

Journal: European journal of medical genetics

Published: December 27, 2019

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Journal: Molecular genetics & genomic medicine

Published: January 29, 2019

A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature.

A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next-generation sequencing and review of the literature.

Journal: Journal of the peripheral nervous system : JPNS

Published: November 28, 2018

Showing 1-12 of 24

Last Updated: 09/26/2026