Search Results - "Alzibdeh, Abdulla M"

Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents by Ababneh, Nidaa A, Ali, Dema, Al-Kurdi, Ban, Sallam, Malik, Alzibdeh, Abdulla M, Salah, Bareqa, Ryalat, Abdee T, Azab, Belal, Sharrack, Basil, Awidi, Abdalla

“…Background Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia, caused by mutations in the APTX gene. The disease is…”
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Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene by Ababneh, Nidaa A., Al-Kurdi, Ban, Ali, Dema, Abuarqoub, Duaa, Barham, Raghda, Alzibdeh, Abdulla M., Khanfar, Asim N., Altantawi, Ahmad M., Ryalat, Abdee T., Sharrack, Basil, Awidi, Abdalla

“…Ataxia with Oculomotor Apraxia Type 1 (AOA1) is an autosomal-recessive cerebellar ataxia characterized by early-onset cerebellar atrophy and axonal…”
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