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E Bittner

Showing results (51-60 of 92) with videos related to

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Muscle & Nerve|June 27, 2015
A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis--The Austrian experienceKarin Pichler, Sabine Scholl-Buergi, Robert Birnbacher, et al.
Human Molecular Genetics|October 2, 2002
Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disordersPaul J Holzfeind, Prabhjit K Grewal, Herbert A Reitsamer, et al.
The Journal of Cell Biology|December 21, 2000
MAP1B is required for axon guidance and Is involved in the development of the central and peripheral nervous systemA Meixner, S Haverkamp, H Wässle, et al.
Biochemical Society Symposium|March 27, 2003
MS screening strategies: investigating the glycomes of knockout and myodystrophic mice and leukodystrophic human brainsMark Sutton-Smith, Howard R Morris, Prabhjit K Grewal, et al.
Neuromuscular Disorders : NMD|March 1, 1995
Sarcolemmal expression of dystrophin C-terminus but reduced expression of 6q-dystrophin-related protein in two DMD patients with large deletions of the dystrophin geneR E Bittner, S Shorny, R Ferlings, et al.
Neuropediatrics|August 30, 2002
Effects of oral creatine supplementation in a patient with MELAS phenotype and associated nephropathyN Barisic, G Bernert, O Ipsiroglu, et al.
Anatomy and Embryology|April 30, 1999
Recruitment of bone-marrow-derived cells by skeletal and cardiac muscle in adult dystrophic mdx miceR E Bittner, C Schöfer, K Weipoltshammer, et al.
Human Molecular Genetics|March 18, 2005
Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiencyIris Oezen, Walter Rossmanith, Sonja Forss-Petter, et al.
Neurology|October 26, 2005
Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP geneD Haubenberger, R E Bittner, S Rauch-Shorny, et al.
Orphanet Journal of Rare Diseases|July 19, 2022
A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathyIngrid Bader, M Freilinger, F Landauer, et al.
Pageof 10

Showing results (51-60 of 92) with videos related to

Sort By:
Pageof 10
Muscle & Nerve|June 27, 2015
A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis--The Austrian experienceKarin Pichler, Sabine Scholl-Buergi, Robert Birnbacher, et al.
Human Molecular Genetics|October 2, 2002
Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disordersPaul J Holzfeind, Prabhjit K Grewal, Herbert A Reitsamer, et al.
The Journal of Cell Biology|December 21, 2000
MAP1B is required for axon guidance and Is involved in the development of the central and peripheral nervous systemA Meixner, S Haverkamp, H Wässle, et al.
Biochemical Society Symposium|March 27, 2003
MS screening strategies: investigating the glycomes of knockout and myodystrophic mice and leukodystrophic human brainsMark Sutton-Smith, Howard R Morris, Prabhjit K Grewal, et al.
Neuromuscular Disorders : NMD|March 1, 1995
Sarcolemmal expression of dystrophin C-terminus but reduced expression of 6q-dystrophin-related protein in two DMD patients with large deletions of the dystrophin geneR E Bittner, S Shorny, R Ferlings, et al.
Neuropediatrics|August 30, 2002
Effects of oral creatine supplementation in a patient with MELAS phenotype and associated nephropathyN Barisic, G Bernert, O Ipsiroglu, et al.
Anatomy and Embryology|April 30, 1999
Recruitment of bone-marrow-derived cells by skeletal and cardiac muscle in adult dystrophic mdx miceR E Bittner, C Schöfer, K Weipoltshammer, et al.
Human Molecular Genetics|March 18, 2005
Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiencyIris Oezen, Walter Rossmanith, Sonja Forss-Petter, et al.
Neurology|October 26, 2005
Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP geneD Haubenberger, R E Bittner, S Rauch-Shorny, et al.
Orphanet Journal of Rare Diseases|July 19, 2022
A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathyIngrid Bader, M Freilinger, F Landauer, et al.
Pageof 10