Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents.

by Nidaa A Ababneh, Dema Ali, Ban Al-Kurdi, Malik Sallam, Abdulla M Alzibdeh, Bareqa Salah, Abdee T Ryalat, Belal Azab, Basil Sharrack, Abdalla Awidi
Published 2020-01-01

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 m...

by 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
Published 2020-10-01