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

por 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
Publicado 2021

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

por 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
Publicado 2018