Concepedia

Mehdi Benkirane

MB

Statistics

Publications

9

Citations

260

H-Index

9

Active since

2019

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 neurogenetics, molecular genetics, and life sciences.

Publications per year

2019–2024

9

Publications

9

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 · 50 citations · Full text

Life Sciences, Genetics, Neuroscience +17

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

Mehdi Benkirane, Dylan da Cunha, Cécilia Marelli et al. · Brain · 2022 · 44 citations

Life Sciences, Genetics, Molecular Genetics +16

Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort

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

Life Sciences, Molecular Medicine, Neurology +9

ATP8A2-related disorders as recessive cerebellar ataxia

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

Life Sciences, Genetics, Molecular Genetics +14

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

Heba Morsy, Mehdi Benkirane, Elisa Calì et al. · Genetics in Medicine · 2022 · 28 citations · Full text

Medicine, Neurology, Neuroscience +12

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