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BMC Medical Genomics|June 20, 2013
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathwaysCecilia Mancini, Paola Roncaglia, Alessandro Brussino, et al.Annals of Clinical and Translational Neurology|January 13, 2017
POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonismLionel Van Maldergem, Arnaud Besse, Boel De Paepe, et al.Archives of Neurology|May 11, 2011
SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxiaCecilia Marelli, Joyce van de Leemput, Janel O Johnson, et al.Journal of the Neurological Sciences|December 17, 2008
Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian populationPaola S Denora, Maria Muglia, Carlo Casali, et al.Neurology. Genetics|March 27, 2018
<i>ACO2</i> homozygous missense mutation associated with complicated hereditary spastic paraplegiaChristian G Bouwkamp, Zaid Afawi, Aviva Fattal-Valevski, et al.Human Mutation|October 17, 2017
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56Christelle M Durand, Laura Dhers, Christelle Tesson, et al.Annals of Neurology|April 5, 2016
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseasesConceição Bettencourt, Davina Hensman-Moss, Michael Flower, et al.Annals of Neurology|January 3, 2013
Mutations in KCND3 cause spinocerebellar ataxia type 22Yi-Chung Lee, Alexandra Durr, Karen Majczenko, et al.American Journal of Human Genetics|February 7, 2012
RAD51 haploinsufficiency causes congenital mirror movements in humansChristel Depienne, Delphine Bouteiller, Aurélie Méneret, et al.Brain : a Journal of Neurology|May 15, 2009
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5Cyril Goizet, Amir Boukhris, Alexandra Durr, et al.Pageof 19