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

por Elsayed, Liena E. O., Eltazi, Isra Zuhair, Ahmed, Ammar E., Stevanin, Giovanni
Publicado 2021

PLA2G6 ‐associated late‐onset parkinsonism in a Sudanese family

por Bakhit, Yousuf, Tesson, Christelle, Ibrahim, Mohamed O., Eltom, Khalid, Eltazi, Isra, Elsayed, Liena E.O., Lesage, Suzanne, Seidi, Osheik, Corvol, Jean‐Christophe, Wüllner, Ullrich
Publicado 2023

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage

por Martins, Sandra, Yahia, Ashraf, Costa, Inês P. D., Siddig, Hassab E., Abubaker, Rayan, Koko, Mahmoud, Corral-Juan, Marc, Matilla-Dueñas, Antoni, Brice, Alexis, Durr, Alexandra, Leguern, Eric, Ranum, Laura P. W., Amorim, António, Elsayed, Liena E. O., Stevanin, Giovanni, Sequeiros, Jorge
Publicado 2023

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

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

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

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

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

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

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

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

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

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