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Neurogenetics|June 29, 2007
A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSPChristel Depienne, Estelle Fedirko, Jean-Marc Faucheux, et al.Movement Disorders : Official Journal of the Movement Disorder Society|July 11, 2012
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiencyMercedes Serrano, Mónica Rebollo, Christel Depienne, et al.Developmental Medicine and Child Neurology|February 16, 2020
Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutationsMegan Spencer-Smith, Jacquelyn L Knight, Emmanuelle Lacaze, et al.Ophthalmology|November 2, 2010
Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 geneBernard Puech, Arnaud Lacour, Giovanni Stevanin, et al.Human Mutation|October 15, 2008
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10Cyril Goizet, Amir Boukhris, Emeline Mundwiller, et al.International Journal of Molecular Sciences|February 25, 2023
Novel Variants of <i>SOX4</i> in Patients with Intellectual DisabilityMartin Grosse, Alma Kuechler, Tabib Dabir, et al.Human Molecular Genetics|February 8, 2017
Paternal age effects on sperm FOXK1 and KCNA7 methylation and transmission into the next generationStefanie Atsem, Juliane Reichenbach, Ramya Potabattula, et al.Plos One|March 6, 2014
Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disordersGuillaume Huguet, Caroline Nava, Nathalie Lemière, et al.Human Mutation|March 17, 2006
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancyChristel Depienne, Alexis Arzimanoglou, Oriane Trouillard, 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.Pageof 18