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Anna Vihola

Showing results (11-20 of 50) with videos related to

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The Journal of Biological Chemistry|July 17, 2010
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophiesJaakko Sarparanta, Gaëlle Blandin, Karine Charton, et al.
Human Molecular Genetics|September 22, 2010
Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathiesKarine Charton, Nathalie Danièle, Anna Vihola, et al.
Human Molecular Genetics|April 17, 2015
CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathyKarine Charton, Jaakko Sarparanta, Anna Vihola, et al.
Journal of Neurology|March 3, 2022
Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositisMridul Johari, Anna Vihola, Johanna Palmio, et al.
Human Gene Therapy. Clinical Development|June 1, 2013
The phenotype of dysferlin-deficient mice is not rescued by adeno-associated virus-mediated transfer of anoctamin 5François Monjaret, Laurence Suel-Petat, Nathalie Bourg-Alibert, et al.
Human Molecular Genetics|April 18, 2023
Extension of the DNAJB2a isoform in a dominant neuromyopathy familyJaakko Sarparanta, Per Harald Jonson, Jens Reimann, et al.
American Journal of Human Genetics|July 30, 2002
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titinPeter Hackman, Anna Vihola, Henna Haravuori, et al.
Neuromuscular Disorders : NMD|May 2, 2021
Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulinLydia Sagath, Vilma-Lotta Lehtokari, Salla Välipakka, et al.
The American Journal of Pathology|October 26, 2010
Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2Olayinka Raheem, Shodimu-Emmanuel Olufemi, Linda L Bachinski, et al.
Neuromuscular Disorders : NMD|October 25, 2008
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)Peter Hackman, Sylvie Marchand, Jaakko Sarparanta, et al.
Pageof 5

Showing results (11-20 of 50) with videos related to

Sort By:
Pageof 5
The Journal of Biological Chemistry|July 17, 2010
Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophiesJaakko Sarparanta, Gaëlle Blandin, Karine Charton, et al.
Human Molecular Genetics|September 22, 2010
Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathiesKarine Charton, Nathalie Danièle, Anna Vihola, et al.
Human Molecular Genetics|April 17, 2015
CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathyKarine Charton, Jaakko Sarparanta, Anna Vihola, et al.
Journal of Neurology|March 3, 2022
Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositisMridul Johari, Anna Vihola, Johanna Palmio, et al.
Human Gene Therapy. Clinical Development|June 1, 2013
The phenotype of dysferlin-deficient mice is not rescued by adeno-associated virus-mediated transfer of anoctamin 5François Monjaret, Laurence Suel-Petat, Nathalie Bourg-Alibert, et al.
Human Molecular Genetics|April 18, 2023
Extension of the DNAJB2a isoform in a dominant neuromyopathy familyJaakko Sarparanta, Per Harald Jonson, Jens Reimann, et al.
American Journal of Human Genetics|July 30, 2002
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titinPeter Hackman, Anna Vihola, Henna Haravuori, et al.
Neuromuscular Disorders : NMD|May 2, 2021
Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulinLydia Sagath, Vilma-Lotta Lehtokari, Salla Välipakka, et al.
The American Journal of Pathology|October 26, 2010
Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2Olayinka Raheem, Shodimu-Emmanuel Olufemi, Linda L Bachinski, et al.
Neuromuscular Disorders : NMD|October 25, 2008
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)Peter Hackman, Sylvie Marchand, Jaakko Sarparanta, et al.
Pageof 5