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H Goebel

Showing results (461-470 of 483) with videos related to

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Journal of Medical Genetics|November 3, 2004
Missense mutations of ACTA1 cause dominant congenital myopathy with coresA M Kaindl, F Rüschendorf, S Krause, et al.
Neurology|February 17, 2010
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCLW Xin, T E Mullen, R Kiely, et al.
Neurology|December 29, 2005
A mutation in myotilin causes spheroid body myopathyT Foroud, N Pankratz, A P Batchman, et al.
Neurology|February 7, 2014
Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axonsChristopher J Klein, Yanhong Wu, Peter Vogel, et al.
Journal of Neurology|March 3, 2004
A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desminAyush Dagvadorj, Montse Olivé, Jean-Andoni Urtizberea, et al.
Brain : a Journal of Neurology|May 2, 2007
A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23M Gribaa, M Salih, M Anheim, et al.
Molecular Genetics and Metabolism|December 28, 2016
Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dogM Hirz, M Drögemüller, A Schänzer, et al.
Annals of Neurology|May 4, 2004
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N geneAna Ferreiro, Chantal Ceuterick-de Groote, Jared J Marks, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 10, 1996
Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophyB Hess, P Saftig, D Hartmann, et al.
Neuromuscular Disorders : NMD|December 30, 2020
A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestationMaria L Rocha, Carsten Dittmayer, Akinori Uruha, et al.
Pageof 49

Showing results (461-470 of 483) with videos related to

Sort By:
Pageof 49
Journal of Medical Genetics|November 3, 2004
Missense mutations of ACTA1 cause dominant congenital myopathy with coresA M Kaindl, F Rüschendorf, S Krause, et al.
Neurology|February 17, 2010
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCLW Xin, T E Mullen, R Kiely, et al.
Neurology|December 29, 2005
A mutation in myotilin causes spheroid body myopathyT Foroud, N Pankratz, A P Batchman, et al.
Neurology|February 7, 2014
Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axonsChristopher J Klein, Yanhong Wu, Peter Vogel, et al.
Journal of Neurology|March 3, 2004
A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desminAyush Dagvadorj, Montse Olivé, Jean-Andoni Urtizberea, et al.
Brain : a Journal of Neurology|May 2, 2007
A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23M Gribaa, M Salih, M Anheim, et al.
Molecular Genetics and Metabolism|December 28, 2016
Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dogM Hirz, M Drögemüller, A Schänzer, et al.
Annals of Neurology|May 4, 2004
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N geneAna Ferreiro, Chantal Ceuterick-de Groote, Jared J Marks, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 10, 1996
Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophyB Hess, P Saftig, D Hartmann, et al.
Neuromuscular Disorders : NMD|December 30, 2020
A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestationMaria L Rocha, Carsten Dittmayer, Akinori Uruha, et al.
Pageof 49