Showing results (311-320 of 327) with videos related to

Sort By:
Pageof 33
American Journal of Human Genetics|November 27, 2012
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegiaChristelle Tesson, Magdalena Nawara, Mustafa A M Salih, et al.
The Journal of Experimental Medicine|September 21, 2021
Implication of folate deficiency in CYP2U1 loss of functionClaire Pujol, Anne Legrand, Livia Parodi, et al.
American Journal of Human Genetics|August 6, 2003
A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS studyJian-Liang Li, Michael R Hayden, Elisabeth W Almqvist, et al.
European Journal of Neurology|June 28, 2025
Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and CharacteristicsJulian Theuriet, Lukas Paulet, Blandine Acket, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|May 11, 2026
A Severity-Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA-AtaxiaJason W Robertson, Isaac Adanyeguh, David J Arpin, et al.
Ebiomedicine|December 27, 2023
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansionsJean-Loup Méreaux, Claire-Sophie Davoine, David Pellerin, et al.
European Journal of Human Genetics : EJHG|September 8, 2016
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in SudanLiena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, et al.
Human Mutation|December 24, 2008
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletionPaola S Denora, David Schlesinger, Carlo Casali, et al.
Science (New York, N.Y.)|February 1, 2014
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disordersGaia Novarino, Ali G Fenstermaker, Maha S Zaki, et al.
BMC Medical Genetics|August 18, 2006
Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS studyJian-Liang Li, Michael R Hayden, Simon C Warby, et al.
Pageof 33