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Annals of Neurology|October 3, 2009
SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosisRonen Spiegel, Avraham Shaag, Simon Edvardson, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 19, 2014
Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorderDaniella Nishri, Simon Edvardson, Dorit Lev, et al.Muscle & Nerve|August 23, 2015
Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1)Ulla Najwa Abdulhaq, Mohannad Daana, Talia Dor, et al.Genome Research|April 14, 2011
Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesisYaniv Erlich, Simon Edvardson, Emily Hodges, et al.Neurogenetics|June 17, 2016
A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delaySimon Edvardson, Yael Elbaz-Alon, Chaim Jalas, et al.Annals of Neurology|August 30, 2016
Therapy with eculizumab for patients with CD59 p.Cys89Tyr mutationDror Mevorach, Inna Reiner, Amir Grau, et al.American Journal of Human Genetics|December 29, 2009
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutationSimon Edvardson, Avraham Shaag, Shamir Zenvirt, et al.American Journal of Human Genetics|December 11, 2008
Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystoniaSimon Edvardson, Hiroko Hama, Avraham Shaag, et al.Journal of Medical Genetics|September 14, 2013
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposisSimon Edvardson, Angel Ashikov, Chaim Jalas, et al.Molecular Genetics and Metabolism|August 5, 2010
l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutationSimon Edvardson, Stanley H Korman, Amir Livne, et al.Pageof 8