Mehdi Benkirane

5PUBLICATIONS
44CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesNeurogenetics
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Publications (5)

|May 13, 2026
Characterization of Three Distinct Loss-of-Function Cav2.3 Variants.

|Nov 24, 2025
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Pritha Bisarad, Yung-Chun Wang, Peter T Skidmore

|Jun 17, 2024
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Mehdi Benkirane, Marion Bonhomme, Heba Morsy

|Jul 27, 2022
RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.

Mehdi Benkirane, Dylan Da Cunha, Cecilia Marelli

|Jul 08, 2021
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.

Mehdi Benkirane, Cecilia Marelli, Claire Guissart

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Frequent Collaborators

2 joint publications

David Baux

1 joint publications

Sylvie Tuffery-Giraud

1 joint publications

Heba Morsy

1 joint publications

Damian Smedley