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Long Read Genome Sequencing for Cerebellar Ataxia

Author:Maki, Niki   Blanco, Kirsten   Barrick, Rebekah   Smith, Erica   de Dios, Ivan   Berger, Seth   Délot, Emmanuèle   Bluske, Krista   Pitsava, Greta   Das, Soma   Gomez, Christopher M.   Vilain, Eric   Xiao, Changrui   

Session Name:P4: Movement Disorders: Ataxias 1  

Topic:Movement Disorders  

Program Number:P4.009  

Author Institution:UC Irvine, CA  Children’s Hospital of Orange County (CHOC), CA  Ambry Genetics, CA  The University of Chicago, IL  UC Irvine, Orange, CA  

A Novel FA2H Variant with Cerebellar Hypometabolism: A Case Report of Suspected SPG35

Author:Talavera De la Esperanza, Blanca   Chinchihualpa Paredes, Nathaly   herrera, andrea   Collins-Ruff, Kathleen   Yu, Zheming   Lin, Amanda   Patino Murillas, Jorge   Espay, Alberto   Marsili, Luca   

Session Name:P4: Movement Disorders: Ataxias 1  

Topic:Movement Disorders  

Program Number:P4.010  

Author Institution:University of Cincinnati, Cincinnati, OH  University of Cincinnati, OH  University of Cincinnati Medical Center, Cincinnati, OH  

Ataxia and Azoospermia Caused by an MT-ATP6 Mutation with Apparent Anticipation due to Heteroplasmy in a Large Extended Kindred

Author:Zhu, David   Xiao, Changrui   Pryor, Jon   Frutiger, Sally   Clark, Brent   Casey, Hannah   Bower, Matthew   Yu, Guoyun   Du, Xiaofei   Toro, Camilo   Gomez, Christopher   

Session Name:P4: Movement Disorders: Ataxias 1  

Topic:Movement Disorders  

Program Number:P4.011  

Author Institution:University of Chicago, MA  UC Irvine, Orange, CA  University of Minnesota, MN  University of Chicago, IL  National Human Genome Research Institute, MD  NIH, Bethesda, MD  University of Chicago, Chicago, IL  

A Longitudinal Observational Study for Assessing Clinical Markers in Spinocerebellar Ataxia Type 31

Author:Ishikawa, Kinya   Aoki, Hanako   

Session Name:P4: Movement Disorders: Ataxias 1  

Topic:Movement Disorders  

Program Number:P4.012  

Author Institution:Institute of Science Tokyo, Tokyo, Japan  Institute of Science Tokyo, Japan  

A Single-center Experience with Omaveloxolone in Friedreich Ataxia

Author:Gramaglia, Martina   Sarnataro, Alessio   Puorro, Giorgia   Marsili, Angela   Bonfini Rendina, Alessia   Pane, Chiara   Sacca, Francesco   

Session Name:P4: Movement Disorders: Ataxias 1  

Topic:Movement Disorders  

Program Number:P4.013  

Author Institution:University Federico II, Italy  University Federico II, Naples, Italy  University Federico II, Napoli, Italy