Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview

by Liena E. O. Elsayed, Liena E. O. Elsayed, Isra Zuhair Eltazi, Ammar E. Ahmed, Giovanni Stevanin, Giovanni Stevanin, Giovanni Stevanin
Published 2021-11-01

Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family

by Liena E. O. Elsayed, Liena E. O. Elsayed, Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Ashraf Yahia, Ashraf Yahia, Ashraf Yahia, Rayan Abubaker, Mahmoud Koko, Amal S. I. Abd Allah, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Alexis Brice, Ammar E. Ahmed, Giovanni Stevanin, Giovanni Stevanin, Giovanni Stevanin
Published 2020-10-01

PLA2G6‐associated late‐onset parkinsonism in a Sudanese family

by Yousuf Bakhit, Christelle Tesson, Mohamed O. Ibrahim, Khalid Eltom, Isra Eltazi, Liena E.O. Elsayed, Suzanne Lesage, Osheik Seidi, Jean‐Christophe Corvol, Ullrich Wüllner, Sudanese Parkinson's Disease Study Group
Published 2023-06-01

A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability

by Mutaz Amin, Cedric Vignal, Esraa Eltaraifee, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Arwa Babai, Iman Elbadi, Doua Mustafa, Rayan Abubaker, Mohamed Mustafa, Severine Drunat, Liena E. O. Elsayed, Ammar E. Ahmed, Odile Boespflug-Tanguy, Imen Dorboz
Published 2022-11-01

Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family

by Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Rayan A. Siddig, Mutaz Amin, Mahmoud Koko, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Ammar E. Ahmed, Giovanni Stevanin
Published 2018-05-01

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia

by Ashraf Yahia, Ashraf Yahia, Ashraf Yahia, Ashraf Yahia, Liena E. O. Elsayed, Liena E. O. Elsayed, Remi Valter, Remi Valter, Ahlam A. A. Hamed, Inaam N. Mohammed, Maha A. Elseed, Mustafa A. Salih, Typhaine Esteves, Typhaine Esteves, Nicolas Auger, Nicolas Auger, Rayan Abubaker, Mahmoud Koko, Fatima Abozar, Hiba Malik, Rawaa Adil, Sara Emad, Mhammed Alhassan Musallam, Razaz Idris, Isra Z. M. Eltazi, Arwa Babai, Elhami A. A. Ahmed, Amal S. I. Abd Allah, Mathilde Mairey, Ahmed K. M. A. Ahmed, Ahmed K. M. A. Ahmed, Ahmed K. M. A. Ahmed, Mustafa I. Elbashir, Alexis Brice, Muntaser E. Ibrahim, Ammar E. Ahmed, Foudil Lamari, Giovanni Stevanin, Giovanni Stevanin
Published 2021-08-01

Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan

by Mutaz Amin, Mutaz Amin, Cedric Vignal, Ahlam A. A. Hamed, Inaam N. Mohammed, Maha A. Elseed, Rayan Abubaker, Rayan Abubaker, Yousuf Bakhit, Yousuf Bakhit, Arwa Babai, Eman Elbadi, Esraa Eltaraifee, Doua Mustafa, Ashraf Yahia, Melka Osman, Mahmoud Koko, Mohamed Mustafa, Mohamed Alsiddig, Sahwah Haroun, Azza Elshafea, Severine Drunat, Severine Drunat, Liena E. O. Elsayed, Ammar E. Ahmed, Odile Boespflug-Tanguy, Odile Boespflug-Tanguy, Imen Dorboz, Imen Dorboz
Published 2022-06-01