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H Goebel

Showing results (431-440 of 483) with videos related to

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Annals of Clinical and Translational Neurology|November 28, 2018
Autophagic vacuolar myopathy is a common feature of CLN3 diseaseJosefine Radke, Randi Koll, Esther Gill, et al.
Neurology|January 5, 2002
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutationM Vorgerd, K Ricker, F Ziemssen, et al.
Journal of Immunology (Baltimore, Md. : 1950)|October 1, 1991
Affinity enhancement and transmembrane signaling are associated with distinct epitopes on the CD8 alpha beta heterodimerK Eichmann, A Ehrfeld, I Falk, et al.
Journal of Child Neurology|April 10, 2004
Actin-related myopathy without any missense mutation in the ACTA1 geneHans H Goebel, Knut Brockmann, Carsten G Bönnemann, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|October 24, 2014
The lymphoid follicle variant of dermatomyositisJosefine Radke, Debora Pehl, Eleonora Aronica, et al.
Annals of the New York Academy of Sciences|March 27, 1995
X-linked dilated cardiomyopathy. Novel mutation of the dystrophin geneW M Franz, M Cremer, R Herrmann, et al.
Journal of Medical Genetics|November 10, 2000
Desmin splice variants causing cardiac and skeletal myopathyK Y Park, M C Dalakas, H H Goebel, et al.
Journal of Child Neurology|September 5, 2006
Patient with actin aggregate myopathy and not formerly identified ACTA1 mutation is heterozygous for the Gly15Arg mutation of ACTA1, which has previously been associated with actinopathyHans H Goebel, Knut Brockman, Carsten G Bönnemann, et al.
Annals of Neurology|February 5, 1998
Localization of the giant axonal neuropathy gene to chromosome 16q24K M Flanigan, T O Crawford, J W Griffin, et al.
Acta Neuropathologica|January 1, 1987
Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorderA Bardosi, W Creutzfeldt, S DiMauro, et al.
Pageof 49

Showing results (431-440 of 483) with videos related to

Sort By:
Pageof 49
Annals of Clinical and Translational Neurology|November 28, 2018
Autophagic vacuolar myopathy is a common feature of CLN3 diseaseJosefine Radke, Randi Koll, Esther Gill, et al.
Neurology|January 5, 2002
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutationM Vorgerd, K Ricker, F Ziemssen, et al.
Journal of Immunology (Baltimore, Md. : 1950)|October 1, 1991
Affinity enhancement and transmembrane signaling are associated with distinct epitopes on the CD8 alpha beta heterodimerK Eichmann, A Ehrfeld, I Falk, et al.
Journal of Child Neurology|April 10, 2004
Actin-related myopathy without any missense mutation in the ACTA1 geneHans H Goebel, Knut Brockmann, Carsten G Bönnemann, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|October 24, 2014
The lymphoid follicle variant of dermatomyositisJosefine Radke, Debora Pehl, Eleonora Aronica, et al.
Annals of the New York Academy of Sciences|March 27, 1995
X-linked dilated cardiomyopathy. Novel mutation of the dystrophin geneW M Franz, M Cremer, R Herrmann, et al.
Journal of Medical Genetics|November 10, 2000
Desmin splice variants causing cardiac and skeletal myopathyK Y Park, M C Dalakas, H H Goebel, et al.
Journal of Child Neurology|September 5, 2006
Patient with actin aggregate myopathy and not formerly identified ACTA1 mutation is heterozygous for the Gly15Arg mutation of ACTA1, which has previously been associated with actinopathyHans H Goebel, Knut Brockman, Carsten G Bönnemann, et al.
Annals of Neurology|February 5, 1998
Localization of the giant axonal neuropathy gene to chromosome 16q24K M Flanigan, T O Crawford, J W Griffin, et al.
Acta Neuropathologica|January 1, 1987
Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorderA Bardosi, W Creutzfeldt, S DiMauro, et al.
Pageof 49