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E Bittner

Showing results (81-90 of 92) with videos related to

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EMBO Reports|June 16, 2007
Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegenerationWolfgang M Schmidt, Cornelia Kraus, Harald Höger, et al.
Molecular and Cellular Pediatrics|April 13, 2026
Phenotypic variability in female individuals with the NAA10 missense variants p.(L126R), p.(L126V), or p.(F128L) leading to NAA10-related syndromeAnja Bühler, Katharina Aigner-Radakovics, Federica Diofano, et al.
Neuropediatrics|May 28, 2008
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndromeM Auer-Grumbach, C Fischer, L Papić, et al.
Nature Genetics|October 3, 1999
Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2BR E Bittner, L V Anderson, E Burkhardt, et al.
Neuromuscular Disorders : NMD|November 18, 2005
The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient miceMaja von der Hagen, Steven H Laval, Lynsey M Cree, et al.
Journal of Neurology|November 29, 2017
Pompe disease in Austria: clinical, genetic and epidemiological aspectsW N Löscher, M Huemer, T M Stulnig, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2025
A recurrent missense variant in the PPIB gene encoding peptidylprolyl isomerase B underlies adult-onset autosomal dominant optic atrophyKatharina Valentin, Monika Kustermann, Mona R Schneider, et al.
International Journal of Molecular Sciences|February 11, 2023
Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid DeficiencyFabian Dorninger, Attila Kiss, Peter Rothauer, et al.
Autophagy|November 29, 2023
CARM1 drives mitophagy and autophagy flux during fasting-induced skeletal muscle atrophyDerek W Stouth, Tiffany L vanLieshout, Andrew I Mikhail, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossMatthias Baumann, Cecilia Giunta, Birgit Krabichler, et al.
Pageof 10

Showing results (81-90 of 92) with videos related to

Sort By:
Pageof 10
EMBO Reports|June 16, 2007
Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegenerationWolfgang M Schmidt, Cornelia Kraus, Harald Höger, et al.
Molecular and Cellular Pediatrics|April 13, 2026
Phenotypic variability in female individuals with the NAA10 missense variants p.(L126R), p.(L126V), or p.(F128L) leading to NAA10-related syndromeAnja Bühler, Katharina Aigner-Radakovics, Federica Diofano, et al.
Neuropediatrics|May 28, 2008
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndromeM Auer-Grumbach, C Fischer, L Papić, et al.
Nature Genetics|October 3, 1999
Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2BR E Bittner, L V Anderson, E Burkhardt, et al.
Neuromuscular Disorders : NMD|November 18, 2005
The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient miceMaja von der Hagen, Steven H Laval, Lynsey M Cree, et al.
Journal of Neurology|November 29, 2017
Pompe disease in Austria: clinical, genetic and epidemiological aspectsW N Löscher, M Huemer, T M Stulnig, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2025
A recurrent missense variant in the PPIB gene encoding peptidylprolyl isomerase B underlies adult-onset autosomal dominant optic atrophyKatharina Valentin, Monika Kustermann, Mona R Schneider, et al.
International Journal of Molecular Sciences|February 11, 2023
Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid DeficiencyFabian Dorninger, Attila Kiss, Peter Rothauer, et al.
Autophagy|November 29, 2023
CARM1 drives mitophagy and autophagy flux during fasting-induced skeletal muscle atrophyDerek W Stouth, Tiffany L vanLieshout, Andrew I Mikhail, et al.
American Journal of Human Genetics|January 24, 2012
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossMatthias Baumann, Cecilia Giunta, Birgit Krabichler, et al.
Pageof 10