Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia

Author:

Elsaid Mahmoud Fawzi1,Chalhoub Nader2,Ben-Omran Tawfeg1,Kumar Pankaj3,Kamel Hussein1,Ibrahim Khalid1,Mohamoud Yasmin4,Al-Dous Eman4,Al-Azwani Iman4,Malek Joel A.4,Suhre Karsten3,Ross M. Elizabeth5,Aleem Alice Abdel25

Affiliation:

1. Department of Pediatrics; Hamad Medical Corporation; Doha Qatar

2. Neurogenetics; Weill Cornell Medicine-Qatar; Doha Qatar

3. Bioinformatics Core; Weill Cornell Medicine-Qatar; Doha Qatar

4. Genomics Core; Weill Cornell Medicine-Qatar; Doha Qatar

5. Neurogenetics; Feil Family Brain and Mind Research Institute, Weill Cornell Medical College; New York NY

Funder

Qatar National Priorities Research Project

Qatar Foundation Biomedical Research Program to Weill Cornell Medicine-Qatar

Teebi Project

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Reference31 articles.

1. Other autosomal recessive and childhood ataxias;Michele;Handb Clin Neurol,2012

2. Friedreich's ataxia: from disease mechanisms to therapeutic interventions;Lodi;Antioxid Redox Signal,2006

3. ATM: genome stability, neuronal development, and cancer cross paths;Shiloh;Adv Cancer Res,2001

4. The incidence and gene frequency of ataxia-telangiectasia in the United States;Swift;Am J Hum Genet,1986

5. The autosomal recessive cerebellar ataxias;Anheim;N Engl J Med,2012

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