Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Abdee T. Ryalat"'
Autor:
Nidaa A. Ababneh, Ban Al-Kurdi, Dema Ali, Duaa Abuarqoub, Raghda Barham, Abdulla M. Alzibdeh, Asim N. Khanfar, Ahmad M. Altantawi, Abdee T. Ryalat, Basil Sharrack, Abdalla Awidi
Publikováno v:
Stem Cell Research, Vol 48, Iss , Pp 101925- (2020)
Ataxia with Oculomotor Apraxia Type 1 (AOA1) is an autosomal-recessive cerebellar ataxia characterized by early-onset cerebellar atrophy and axonal sensorimotor polyneuropathy. AOA1 is related to mutations in the aprataxin (APTX) gene encoding for th
Externí odkaz:
https://doaj.org/article/bfc3ae2d8d714726916977c791906e65
Autor:
Nidaa A. Ababneh, Dema Ali, Raghda Barham, Ban Al-Kurdi, Nour Sharar, Sabal Al Hadidi, Omar Qanno', Abdee T. Ryalat, Bareqa Salah, Abdalla Awidi
Publikováno v:
Stem Cell Research, Vol 48, Iss , Pp 101967- (2020)
Induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts collected from a 39-year-old multiple symmetric lipomatosis (MLS) female patient carrying a point mutation in MFN2 gene (c.2119C > T). The resulting iPSCs showed typical embr
Externí odkaz:
https://doaj.org/article/5579fa858eb94996ac4d33fd16265909
Autor:
Nidaa A. Ababneh, Ban Al-Kurdi, Dema Ali, Duaa Abuarqoub, Raghda Barham, Abdee T. Ryalat, Abdalla Awidi
Publikováno v:
Stem Cell Research, Vol 47, Iss , Pp 101906- (2020)
Induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts obtained from a 24-year-old female diagnosed with hereditary congenital myasthenic syndrome (CMS), caused by p.Arg331Trp (c.991C > T) homozygous mutation in the gene coding f
Externí odkaz:
https://doaj.org/article/65cf534afd20402686b783e4b25e483a
Autor:
Nidaa A Ababneh, Dema Ali, Ban Al-Kurdi, Malik Sallam, Abdulla M Alzibdeh, Bareqa Salah, Abdee T Ryalat, Belal Azab, Basil Sharrack, Abdalla Awidi
Publikováno v:
PLoS ONE, Vol 15, Iss 8, p e0236808 (2020)
BackgroundAtaxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia, caused by mutations in the APTX gene. The disease is characterized by early-onset cerebellar ataxia, oculomotor apraxia and severe axonal polyneur
Externí odkaz:
https://doaj.org/article/e00440be39a14557918654be88567cf5
Autor:
Basil Sharrack, Raghda Barham, Duaa Abuarqoub, Abdalla Awidi, Ban Al-Kurdi, Ahmad M. Altantawi, Nidaa A. Ababneh, Dema Ali, Abdee T. Ryalat, Abdulla M. Alzibdeh, Asim N. Khanfar
Publikováno v:
Stem Cell Research, Vol 48, Iss, Pp 101925-(2020)
Ataxia with Oculomotor Apraxia Type 1 (AOA1) is an autosomal-recessive cerebellar ataxia characterized by early-onset cerebellar atrophy and axonal sensorimotor polyneuropathy. AOA1 is related to mutations in the aprataxin (APTX) gene encoding for th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c43fcea79092d78400eea998ed1ef561
https://pubmed.ncbi.nlm.nih.gov/32769066
https://pubmed.ncbi.nlm.nih.gov/32769066
Autor:
Raghda Barham, Omar Qanno, Nidaa A. Ababneh, Dema Ali, Sabal Al Hadidi, Bareqa Salah, Ban Al-Kurdi, Abdee T. Ryalat, Abdalla Awidi, Nour Sharar
Publikováno v:
Stem Cell Research, Vol 48, Iss, Pp 101967-(2020)
Induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts collected from a 39-year-old multiple symmetric lipomatosis (MLS) female patient carrying a point mutation in MFN2 gene (c.2119C > T). The resulting iPSCs showed typical embr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c05b6f35d96b65a9c2f6dc9b665caa5f
https://doi.org/10.1016/j.scr.2020.101967
https://doi.org/10.1016/j.scr.2020.101967