Concepedia

Mehdi Benkirane

MB

8

Publications

238

Citations

8

H-Index

2019

Active since

Affiliations

Institut Universitaire de Recherche Clinique(Current)

Inserm

Université de Montpellier

Centre National de la Recherche Scientifique

Physiologie et Médecine Expérimentale du Coeur et des Muscles

Mehdi Benkirane is an author at Institut Universitaire de Recherche Clinique specializing in neurology, medicine, and neuroscience.

ORCID

Top concepts

Publications per year

2019–2024

8

Publications

8

Biallelic<i>PI4KA</i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

Edgard Verdura, Agustí Rodríguez‐Palmero, Valentina Vélez-Santamaría et al. · Brain · 2021 · 47 citations · Full text

RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology

Mehdi Benkirane, Dylan da Cunha, Cécilia Marelli et al. · Brain · 2022 · 43 citations · Full text

, , +21

Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort

Solveig Montaut, Nadège Diedhiou, P. Fahrer et al. · Journal of Neurology · 2021 · 37 citations

, , +5

ATP8A2-related disorders as recessive cerebellar ataxia

Claire Guissart, Alexander N. Harrison, Mehdi Benkirane et al. · Journal of Neurology · 2019 · 28 citations

, , +4

Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia

Jean‐Marie Ravel, Mehdi Benkirane, Nadège Calmels et al. · Journal of Neurology · 2021 · 25 citations · Full text

, , +4

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