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Hans H Goebel

Showing results (81-90 of 89) with videos related to

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Neurology|March 10, 2015
Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathyWerner Stenzel, Corinna Preuße, Yves Allenbach, et al.
Neuromuscular Disorders : NMD|January 20, 2016
De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportionSander Pajusalu, Inga Talvik, Klari Noormets, et al.
Neuromuscular Disorders : NMD|December 20, 2022
Pathogenic variants in three families with distal muscle involvementMarian A J Weterman, Marieke Bronk, Aldo Jongejan, et al.
Neuromuscular Disorders : NMD|August 2, 2015
GNE myopathy in Roma patients homozygous for the p.I618T founder mutationTeodora Chamova, Velina Guergueltcheva, Mariana Gospodinova, et al.
Biomed Research International|November 10, 2015
ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatmentAnne K Braczynski, Stefan Vlaho, Klaus Müller, et al.
European Journal of Human Genetics : EJHG|December 4, 2008
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathyAlexey Shatunov, Montse Olivé, Zagaa Odgerel, et al.
Neuromuscular Disorders : NMD|July 20, 2010
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entityKristl G Claeys, Jean-François Pellissier, Federico Garcia-Bragado, et al.
The Lancet. Neurology|July 10, 2003
Global democratic consensus on neuropathological disease criteriaCristian Achim, Roland Auer, Catherine Bergeron, et al.
Brain : a Journal of Neurology|November 2, 2013
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndromeMichael Krieger, Andreas Roos, Claudia Stendel, et al.
Pageof 9

Showing results (81-90 of 89) with videos related to

Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 89 results.
Neurology|March 10, 2015
Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathyWerner Stenzel, Corinna Preuße, Yves Allenbach, et al.
Neuromuscular Disorders : NMD|January 20, 2016
De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportionSander Pajusalu, Inga Talvik, Klari Noormets, et al.
Neuromuscular Disorders : NMD|December 20, 2022
Pathogenic variants in three families with distal muscle involvementMarian A J Weterman, Marieke Bronk, Aldo Jongejan, et al.
Neuromuscular Disorders : NMD|August 2, 2015
GNE myopathy in Roma patients homozygous for the p.I618T founder mutationTeodora Chamova, Velina Guergueltcheva, Mariana Gospodinova, et al.
Biomed Research International|November 10, 2015
ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatmentAnne K Braczynski, Stefan Vlaho, Klaus Müller, et al.
European Journal of Human Genetics : EJHG|December 4, 2008
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathyAlexey Shatunov, Montse Olivé, Zagaa Odgerel, et al.
Neuromuscular Disorders : NMD|July 20, 2010
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entityKristl G Claeys, Jean-François Pellissier, Federico Garcia-Bragado, et al.
The Lancet. Neurology|July 10, 2003
Global democratic consensus on neuropathological disease criteriaCristian Achim, Roland Auer, Catherine Bergeron, et al.
Brain : a Journal of Neurology|November 2, 2013
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndromeMichael Krieger, Andreas Roos, Claudia Stendel, et al.
Pageof 9