The History of Gene Hunting in Hereditary Spinocerebellar Degeneration: Lessons From the Past and Future Perspectives

по Yahia, Ashraf, Stevanin, Giovanni
Опубликовано в: Front Genet (2021)

A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report

по Yahia, Ashraf, Chen, Zhefan Stephen, Ahmed, Ammar E., Emad, Sara, Adil, Rawaa, Abubaker, Rayan, Taha, Shaimaa Omer M. A., Salih, Mustafa A., Elsayed, Liena, Chan, Ho Yin Edwin, Stevanin, Giovanni
Опубликовано в: BMC Neurol (2021)

Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report

по Yahia, Ashraf, Elsayed, Liena, Babai, Arwa, Salih, Mustafa A., El-Sadig, Sarah Misbah, Amin, Mutaz, Koko, Mahmoud, Abubakr, Rayan, Idris, Razaz, Taha, Shaimaa Omer M.A., Elmalik, Salah A., Brice, Alexis, Ahmed, Ammar Eltahir, Stevanin, Giovanni
Опубликовано в: BMC Neurol (2018)

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

по 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
Опубликовано в: BMC Med Genet (2018)

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

по 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
Опубликовано в: Front Neurol (2020)