A novel nonsense mutation in DNAJC6 expands the phenotype of autosomal-recessive juvenile-onset Parkinson’s disease LE Elsayed, V Drouet, T Usenko, IN Mohammed, AA Hamed, MA Elseed, ... Ann Neurol 79 (2), 335-337, 2016 | 83 | 2016 |
Insights into clinical, genetic, and pathological aspects of hereditary spastic paraplegias: a comprehensive overview LEO Elsayed, IZ Eltazi, AE Ahmed, G Stevanin Frontiers in Molecular Biosciences 8, 690899, 2021 | 58 | 2021 |
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan LEO Elsayed, IN Mohammed, AAA Hamed, MA Elseed, A Johnson, ... European Journal of Human Genetics 25 (1), 100-110, 2017 | 42 | 2017 |
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556 ES Cauley, A Hamed, IN Mohamed, M Elseed, S Martinez, A Yahia, ... Neurogenetics 20, 91-98, 2019 | 21 | 2019 |
Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate … A Yahia, L Elsayed, A Babai, MA Salih, SM El-Sadig, M Amin, M Koko, ... BMC neurology 18, 1-6, 2018 | 21 | 2018 |
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family LEO Elsayed, IN Mohammed, AAA Hamed, MA Elseed, MAM Salih, ... BMC medical genetics 19, 1-5, 2018 | 15 | 2018 |
Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy M Dahawi, MS Elmagzoub, E A. Ahmed, S Baldassari, G Achaz, ... Frontiers in Neurology 12, 738272, 2021 | 12 | 2021 |
A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report A Yahia, ZS Chen, AE Ahmed, S Emad, R Adil, R Abubaker, SOMA Taha, ... BMC neurology 21, 1-5, 2021 | 11 | 2021 |
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability M Amin, C Vignal, E Eltaraifee, IN Mohammed, AAA Hamed, MA Elseed, ... BMC Medical Genomics 15 (1), 236, 2022 | 10 | 2022 |
Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family LEO Elsayed, IN Mohammed, AAA Hamed, MA Elseed, MAM Salih, ... Frontiers in neurology 11, 569996, 2020 | 10 | 2020 |
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia A Yahia, LEO Elsayed, R Valter, AAA Hamed, IN Mohammed, MA Elseed, ... Frontiers in Neurology 12, 720201, 2021 | 9 | 2021 |
Hereditary spastic paraplegias: time for an objective case definition and a new nosology for neurogenetic disorders to facilitate biomarker/therapeutic studies LEO Elsayed, IZM Eltazi, AEM Ahmed, G Stevanin Expert review of neurotherapeutics 19 (5), 409-415, 2019 | 9 | 2019 |
Methylation of alpha-synuclein in a Sudanese cohort Y Bakhit, I Schmitt, A Hamed, EAA Ibrahim, IN Mohamed, SM El-Sadig, ... Parkinsonism & Related Disorders 101, 6-8, 2022 | 8 | 2022 |
Novel variants causing megalencephalic leukodystrophy in Sudanese families M Amin, C Vignal, AAA Hamed, IN Mohammed, MA Elseed, S Drunat, ... Journal of Human Genetics 67 (3), 127-132, 2022 | 8 | 2022 |
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations A Yahia, AAA Hamed, IN Mohamed, MA Elseed, MA Salih, SM El-Sadig, ... European Journal of Human Genetics, 1-13, 2023 | 7 | 2023 |
Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing A Yahia, IB Ayed, AA Hamed, IN Mohammed, MA Elseed, AM Bakhiet, ... Annals of Human Genetics 86 (4), 181-194, 2022 | 7 | 2022 |
An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous … M Koko, A Yahia, LE Elsayed, AA Hamed, IN Mohammed, MA Elseed, ... Annals of Human Genetics 85 (5), 186-195, 2021 | 6 | 2021 |
Clinical and genetic characteristics of leukodystrophies in Africa M Amin, L Elsayed, AE Ahmed Journal of Neurosciences in Rural Practice 8 (S 01), S089-S093, 2017 | 5 | 2017 |
Intrafamilial and interfamilial heterogeneity of PINK1-associated Parkinson's disease in Sudan Y Bakhit, MO Ibrahim, C Tesson, AA Elhassan, MA Ahmed, MA Alebeed, ... Parkinsonism & Related Disorders 111, 105401, 2023 | 4 | 2023 |
Case report: a new family with pontocerebellar hypoplasia 10 from Sudan M Amin, C Vignal, AAA Hamed, IN Mohammed, MA Elseed, R Abubaker, ... Frontiers in genetics 13, 883211, 2022 | 3 | 2022 |