Showing results (161-170 of 257) with videos related to

Sort By:
Pageof 26
Annals of Neurology|March 24, 2005
Distinguishing the four genetic causes of Jouberts syndrome-related disordersEnza Maria Valente, Sarah E Marsh, Marco Castori, et al.
Human Molecular Genetics|May 24, 2018
Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patientsDaniel Nachun, Fuying Gao, Charles Isaacs, et al.
Annals of Clinical and Translational Neurology|September 15, 2017
Impact of diabetes in the Friedreich ataxia clinical outcome measures studyAshley McCormick, Jennifer Farmer, Susan Perlman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 7, 2020
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxiaSimone Schröder, Yun Li, Gökhan Yigit, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 31, 2012
Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxiaBrent L Fogel, Ji Yong Lee, Jessica Lane, et al.
Neurology. Genetics|August 2, 2018
Longitudinal analysis of contrast acuity in Friedreich ataxiaAli G Hamedani, Lauren A Hauser, Susan Perlman, et al.
Human Molecular Genetics|January 25, 2015
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease geneSolaf M Elsayed, Jennifer B Phillips, Raoul Heller, et al.
Neurology|December 1, 2022
Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 GangliosidosesKyriakos Martakis, Jens Claassen, Jordi Gascon-Bayari, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 3, 2026
Frequency of ZFHX3-Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia CohortAnnie Chen, Udbhav Avadhani, Kathie Ngo, et al.
Human Mutation|December 6, 2008
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvementFrancesco Brancati, Miriam Iannicelli, Lorena Travaglini, et al.
Pageof 26