Browse All

Current Filters

CLEAR FILTER x

TITLE

Prevalence of Neurological Symptoms in Pediatric and Adult Patients with Homocystinuria

Author:Betoni, Nicolo   Parke, Brittany   Talebizadeh, Zohreh   Lee, Andrew   Varnet, Marie   Xiao, Changrui   

Session Name:P4: Child Neurology and Developmental Neurology: Neurogenetics 1  

Topic:Child Neurology and Developmental Neurology  

Program Number:P4.004  

Author Institution:Lurie Children's, Chicago, IL  HCU Network America , Parker, CO  Global Genes, Washington, DC, MD  UC Irvine, Orange, CA  University of Colorado, Dallas, TX  

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  

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