Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Saeed M. Al Tala"'
Autor:
Afaf Alsubhi, Manar Aldarwish, Pankaj B. Agrawal, Saeed M. Al Tala, Osama Eldadah, Abdulla A. Alghamdi, Amal Silmi, Mohammed Almannai
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101027- (2024)
FLNC gene encodes for Filamin-C (FLNC) protein, a sacromeric protein with important structural and signaling functions in the myocyte. Pathogenic dominant variants in FLNC were initially linked to myofibrillar myopathy and over time, evidence showed
Externí odkaz:
https://doaj.org/article/9d9aa88a1b4445f2b0924b057a3dd0af
Autor:
Rocio Rius, Neal K. Bennett, Kaustuv Bhattacharya, Lisa G. Riley, Zafer Yüksel, Luke E. Formosa, Alison G. Compton, Russell C. Dale, Mark J. Cowley, Velimir Gayevskiy, Saeed M. Al Tala, Abdulrahman A. Almehery, Michael T. Ryan, David R. Thorburn, Ken Nakamura, John Christodoulou
Publikováno v:
Human Mutation. 43:1970-1978
Primary mitochondrial diseases are a group of genetically and clinically heterogeneous disorders resulting from oxidative phosphorylation (OXPHOS) defects. COX11 encodes a copper chaperone that participates in the assembly of complex IV and has not b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9e11260540fcdf4132eee665d92873d
https://doi.org/10.1002/humu.24453
https://doi.org/10.1002/humu.24453
Publikováno v:
Neurosciences (Riyadh, Saudi Arabia). 11(3)
Microcephaly, retinal dysplasia, pedal edema syndrome is a rare syndrome and possibly under diagnosed. We could find less than 25 cases reported in the literature. Patients were initially categorized as having either microcephaly and lymphedema or mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c89de1878f23f86c6e064e0c49e115b0
https://pubmed.ncbi.nlm.nih.gov/22266624
https://pubmed.ncbi.nlm.nih.gov/22266624
Publikováno v:
Epilepsybehavior : EB. 20(1)
Epileptic encephalopathy with continuous spike-and-wave during sleep is a rare age-related childhood encephalopathy characterized by neuropsychological and motor impairment, epilepsy, and typical EEG findings. Fixation-off sensitivity denotes forms o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::655cd6495b142f059338aa15827a0fcd
https://pubmed.ncbi.nlm.nih.gov/21147040
https://pubmed.ncbi.nlm.nih.gov/21147040
Autor:
Rius, Rocio, Bennett, Neal K., Bhattacharya, Kaustuv, Riley, Lisa G., Yüksel, Zafer, Formosa, Luke E., Compton, Alison G., Dale, Russell C., Cowley, Mark J., Gayevskiy, Velimir, Al Tala, Saeed M., Almehery, Abdulrahman A., Ryan, Michael T., Thorburn, David R., Nakamura, Ken, Christodoulou, John
Publikováno v:
Human Mutation; Dec2022, Vol. 43 Issue 12, p1970-1978, 9p