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Dr. Liena Elsayed
Dr. Liena Elsayed
Department of Basic Sciences, College of Medicine, Princess Nourah bint Abdulrahman University
在 pnu.edu.sa 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
832016
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
582021
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
422017
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
212019
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
212018
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
152018
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
122021
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
112021
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
102022
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
102020
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
92021
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
92019
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
82022
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
82022
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
72023
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
72022
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
62021
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
52017
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
42023
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
32022
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