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Human Genetics|July 3, 2007
A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3Sylvain Hanein, Alexandra Dürr, Pascale Ribai, et al.Acta Neurologica Scandinavica|July 11, 2018
LRRK2 G2019S Parkinson's disease with more benign phenotype than idiopathicSawssan Ben Romdhan, Nouha Farhat, Amina Nasri, et al.European Journal of Human Genetics : EJHG|December 19, 2008
Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patientsDelia Lorenz, Stephan Klebe, Giovanni Stevanin, et al.Journal of Medical Genetics|November 14, 2006
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegiaChristel Depienne, Estelle Fedirko, Sylvie Forlani, et al.The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|March 9, 2007
A conditional pan-neuronal Drosophila model of spinocerebellar ataxia 7 with a reversible adult phenotype suitable for identifying modifier genesMorwena Latouche, Christelle Lasbleiz, Elodie Martin, et al.The Journal of Molecular Diagnostics : JMD|January 27, 2006
Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assayClaudia Cagnoli, Giovanni Stevanin, Chiara Michielotto, et al.Orphanet Journal of Rare Diseases|November 18, 2015
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8Amir Jahic, Mukhran Khundadze, Nadine Jaenisch, et al.Neurogenetics|November 26, 2008
An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing lossAlessandra Terracciano, Carlo Casali, Gaetano S Grieco, et al.Journal of Medical Genetics|December 10, 2013
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunctionTalya Dor, Yuval Cinnamon, Laure Raymond, et al.Human Mutation|December 3, 2009
KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patientsKarla P Figueroa, Natali A Minassian, Giovanni Stevanin, et al.Pageof 19