Article
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.
Human genomics - 3 Apr 2024
Mahdieh Nejat, Heidari Morteza, Rezaei Zahra, Tavasoli Ali Reza, Hosseinpour Sareh, Rasulinejad Maryam, Dehnavi Ali Zare, Ghahvechi Akbari Masoud, Badv Reza Shervin, Vafaei Elahe, Mohebbi Ali, Mohammadi Pouria, Hosseiny Seyyed Mohammad Mahdi, Azizimalamiri Reza, Nikkhah Ali, Pourbakhtyaran Elham, Rohani Mohammad, Khanbanha Narges, Nikbakht Sedigheh, Movahedinia Mojtaba, Karimi Parviz, Ghabeli Homa, Hosseini Seyed Ahmad, Rashidi Fatemeh Sadat, Garshasbi Masoud, Kashani Morteza Rezvani, Ghiasvand Noor M, Zuchner Stephan, Synofzik Matthis, Ashrafi Mahmoud Reza
Abstract excerpt
BACKGROUND: To investigate the genetics of early-onset progressive cerebellar ataxia in Iran, we conducted a study at the Children's Medical Center (CMC), the primary referral center for pediatric disorders in the country, over a three-year period from 2019 to 2022. In this report, we provide the initial findings from the national registry. METHODS: We selected all early-onset patients with an autosomal recessive...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.