Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Amal S. I. Abd Allah"'
Autor:
Ashraf Yahia, Liena E. O. Elsayed, Remi Valter, Ahlam A. A. Hamed, Inaam N. Mohammed, Maha A. Elseed, Mustafa A. Salih, Typhaine Esteves, 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, Mustafa I. Elbashir, Alexis Brice, Muntaser E. Ibrahim, Ammar E. Ahmed, Foudil Lamari, Giovanni Stevanin
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Introduction: Hereditary spastic paraplegia is a clinically and genetically heterogeneous neurological entity that includes more than 80 disorders which share lower limb spasticity as a common feature. Abnormalities in multiple cellular processes are
Externí odkaz:
https://doaj.org/article/9a848f054ed841349194e7fb29f2f808
Autor:
Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Rayan Abubaker, Mahmoud Koko, Amal S. I. Abd Allah, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Ammar E. Ahmed, Giovanni Stevanin
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Background: Arginases catalyze the last step in the urea cycle. Hyperargininemia, a rare autosomal-recessive disorder of the urea cycle, presents after the first year of age with regression of milestones and evolves gradually into progressive spastic
Externí odkaz:
https://doaj.org/article/02c139c4492e4af3bc018d811a3f5439
Autor:
Ashraf Yahia, Ahlam A. A. Hamed, Inaam N. Mohamed, Maha A. Elseed, Mustafa A. Salih, Sarah M. El-sadig, Hassab Elrasoul Siddig, Ali Elsir Musa Nasreldien, Mohamed Ahmed Abdullah, Maha Elzubair, Farouk Yassen Omer, Aisha Motwakil Bakhiet, Rayan Abubaker, Fatima Abozar, Rawaa Adil, Sara Emad, Mhammed Alhassan Musallam, Isra Z. M. Eltazi, Zulfa Omer, Hiba Malik, Mayada O. E. Mohamed, Ali A. Elhassan, Eman O. E. Mohamed, Ahmed K. M. A. Ahmed, Elhami A. A. Ahmed, Esraa Eltaraifee, Bidour K. Hussein, Amal S. I. Abd Allah, Lina Salah, Mohamed Nimir, Omnia M. Tag Elseed, Tasneem E. A. Elhassan, Abubakr Elbashier, Esraa S. A. Alfadul, Moneeb Fadul, Khalil F. Ali, Shaimaa Omer M. A. Taha, Elfatih E. Bushara, Mutaz Amin, Mahmoud Koko, Muntaser E. Ibrahim, Ammar E. Ahmed, Liena E. O. Elsayed, Giovanni Stevanin
Publikováno v:
European Journal of Human Genetics.
Hereditary spinocerebellar degenerations (SCDs) is an umbrella term that covers a group of monogenic conditions that share common pathogenic mechanisms and include hereditary spastic paraplegia (HSP), cerebellar ataxia, and spinocerebellar ataxia. Th
Autor:
Maha A. Elseed, Mohammad R. Toliat, Janine Altmüller, Melka O. EL-Amin, Arwa Babai, Mustafa A. Salih, Amal S I Abd Allah, Ammar E. Ahmed, Rayan A Siddig, Mayada Mohamed, Inaam N. Mohammed, Typhaine Esteves, Ahlam A. Hamed, Peter Nürnberg, Holger Lerche, Mahmoud Koko, Muddathir H. Hamad, Holger Thiele, Ashraf Yahia, Giovanni Stevanin, Liena E O Elsayed
Publikováno v:
Ann Hum Genet
PRUNE1 is linked to a wide range of neurodevelopmental and neurodegenerative phenotypes. Multiple pathogenic missense and stop-gain PRUNE1 variants were identified in its DHH and DHHA2 phosphodiesterase domains. Conversely, a single splice alteration