Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Rayan Abubakr"'
Autor:
Ashraf Yahia, Liena Elsayed, Arwa Babai, Mustafa A. Salih, Sarah Misbah El-Sadig, Mutaz Amin, Mahmoud Koko, Rayan Abubakr, Razaz Idris, Shaimaa Omer M.A. Taha, Salah A. Elmalik, Alexis Brice, Ammar Eltahir Ahmed, Giovanni Stevanin
Publikováno v:
BMC Neurology, Vol 18, Iss 1, Pp 1-6 (2018)
Abstract Background Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL, OMIM #611105) is a genetic disease of the central nervous system characterized by lower limb spasticity, cerebellar ataxia and involvement
Externí odkaz:
https://doaj.org/article/ae4df711b5b34bab82c19856123ad5dc
Autor:
Mustafa A. Salih, Ashraf Yahia, Xianhua Piao, Inaam N. Mohamed, M. Chiara Manzini, Liena E. O. Elsayed, Fatima Abozar, Rayan Abubakr, Ahlam A. Hamed, Maha A. Elseed, Samantha Martinez, Mahmoud Koko, Edmund Cauley
Publikováno v:
Neurogenetics. 20(2)
Genetic mutations associated with brain malformations can lead to a spectrum of severity and it is often difficult to determine whether there are additional pathogenic variants contributing to the phenotype. Here, we present a family affected by a se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a35a9d2b5144d0786f5ccdfca4a2274
https://pubmed.ncbi.nlm.nih.gov/30982090
https://pubmed.ncbi.nlm.nih.gov/30982090
Autor:
Mahmoud Koko, Mutaz Amin, Mustafa A. Salih, Shaimaa Omer M. A. Taha, Ashraf Yahia, Arwa Babai, Alexis Brice, Liena E. O. Elsayed, Giovanni Stevanin, Rayan Abubakr, Sarah M. El-Sadig, Ammar E. Ahmed, Razaz Idris, Salah A. Elmalik
Publikováno v:
BMC Neurology
BMC Neurology, BioMed Central, 2018, 18, pp.175. ⟨10.1186/s12883-018-1180-7⟩
BMC Neurology, Vol 18, Iss 1, Pp 1-6 (2018)
BMC Neurology, BioMed Central, 2018, 18, pp.175. ⟨10.1186/s12883-018-1180-7⟩
BMC Neurology, Vol 18, Iss 1, Pp 1-6 (2018)
International audience; Background: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL, OMIM #611105) is a genetic disease of the central nervous system characterized by lower limb spasticity, cerebellar ataxia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3adedb58bb3906d8021b1ca41677a82