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American Journal of Human Genetics|September 6, 2014
Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathyDavid N Herrmann, Rita Horvath, Janet E Sowden, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2018
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like diseaseVeronika Boczonadi, Martin S King, Anthony C Smith, et al.Movement Disorders : Official Journal of the Movement Disorder Society|April 18, 2012
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathyRita Horvath, Elke Holinski-Feder, Vivienne C M Neeve, et al.Circulation. Cardiovascular Genetics|April 17, 2012
A common variant in the PTPN11 gene contributes to the risk of tetralogy of FallotJudith A Goodship, Darroch Hall, Ana Topf, et al.Genome Research|December 23, 2016
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network ResourceMichael J Keogh, Wei Wei, Ian Wilson, et al.Acta Neuropathologica Communications|February 4, 2017
Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brainsWei Wei, Michael J Keogh, Ian Wilson, et al.Blood|July 19, 2011
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiencyRachel Emma Dickinson, Helen Griffin, Venetia Bigley, et al.Journal of Neurology, Neurosurgery, and Psychiatry|March 15, 2013
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failureGerald Pfeffer, Rita Barresi, Ian J Wilson, et al.Journal of Neuromuscular Diseases|February 13, 2016
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular TransmissionAmina Chaouch, Vito Porcelli, Daniel Cox, et al.Nature Communications|July 4, 2014
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasiaVeronika Boczonadi, Juliane S Müller, Angela Pyle, et al.Pageof 6