Concepedia

Zahra Assouline

ZA

Statistics

Publications

25

Citations

1.3K

H-Index

20

Active since

1987

Affiliations

Inserm(Current)

Université Paris Cité

Hôpital Necker-Enfants Malades

Sorbonne Paris Cité

Délégation Paris 5

Zahra Assouline is an author at Inserm specializing in genetics, life sciences, and molecular genetics.

Publications per year

1987–2021

25

Publications

25

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

Robert Kopajtich, Thomas J. Nicholls, Joanna Rorbach et al. · The American Journal of Human Genetics · 2014 · 158 citations · Full text

, , +17

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

Louise Galmiche, Valérie Serre, Marine Beinat et al. · Human Mutation · 2011 · 152 citations

, , +17

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

Sarah L. Stenton, Claudia B. Catarino, N.A. Andreeva et al. · Journal of Clinical Investigation · 2021 · 151 citations · Full text

, , +17

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

Nicole J. Lake, Bryn D. Webb, David A. Stroud et al. · The American Journal of Human Genetics · 2017 · 126 citations · Full text

, , +12

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies

Thatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente et al. · The American Journal of Human Genetics · 2018 · 85 citations · Full text

, , +14

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