Abdelrahim A. Sadek

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Naiara Akizu, Vincent Cantagrel, Maha S. Zaki et al. · Nature Genetics · 2015 · 134 citations · Full text

Cell Autophagy, Mitophagy, Biallelic Mutations +10

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Darius Ebrahimi‐Fakhari, Julian Teinert, Robert Behne et al. · Brain · 2019 · 74 citations · Full text

Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Nuria C. Bramswig, Aida M. Bertoli‐Avella, Beate Albrecht et al. · Human Genetics · 2018 · 60 citations · Full text

Channelopathies, Genetic Variants, Genetic Disorder +8

Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients

Maha S. Zaki, Laila Selim, Hala T. El‐Bassyouni et al. · European Journal of Paediatric Neurology · 2016 · 47 citations · Full text

Biochemistry, Glycobiology, Pathology +6

Study of the C677T and 1298AC polymorphic genotypes of MTHFR Gene in autism spectrum disorder

Farida El-Baz, Mohammed Abd El-Aal, Tarek Moustafa Kamal et al. · Electronic physician · 2017 · 34 citations · Full text