Du, Xiaofei <br/><br/>
Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia.  [electronic resource] 

 -  Proceedings of the National Academy of Sciences of the United States of America  03 2020 
 - 6023-6034 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S. 
<br/><br/><label>ISSN: </label>1091-6490 
<br/><br/><label>Standard No.: </label>10.1073/pnas.1920008117  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Animals<br/>Animals, Newborn<br/>Cell Line<br/>Cerebellum--cytology<br/>Chlorzoxazone--administration & dosage<br/>DNA Mutational Analysis<br/>Dependovirus--genetics<br/>Disease Models, Animal<br/>Female<br/>Gene Knockdown Techniques<br/>Genetic Vectors--genetics<br/>Humans<br/>Large-Conductance Calcium-Activated Potassium Channel alpha Subunits--antagonists & inhibitors<br/>Loss of Function Mutation<br/>Mice<br/>Mitochondria--pathology<br/>Oocytes<br/>Rats<br/>Recombinant Proteins--genetics<br/>Spinocerebellar Degenerations--diagnosis<br/>Transfection<br/>Exome Sequencing<br/>Xenopus