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Jaakko Sarparanta

Showing results (11-20 of 33) with videos related to

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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 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.
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|June 30, 2006
Constitutive upregulations of titin-based signalling proteins in KY deficient musclesJane Beatham, Katja Gehmlich, Peter F M van der Ven, 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.
Journal of Neurology|November 28, 2025
Characterization of novel CASQ1 variants in two families with unusual phenotypic featuresMilla Laarne, Manu Jokela, Fang Zhao, et al.
Annals of Neurology|February 13, 2013
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1Peter Hackman, Jaakko Sarparanta, Sara Lehtinen, et al.
Cell Metabolism|June 26, 2018
Autophagy Regulates the Liver Clock and Glucose Metabolism by Degrading CRY1Miriam Toledo, Ana Batista-Gonzalez, Emilio Merheb, et al.
Journal of Neuromuscular Diseases|May 21, 2025
A homozygous single-nucleotide variant in <i>TNNT1</i> causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case reportMilla Laarne, Ali Oghabian, Jenni Laitila, et al.
Pageof 4

Showing results (11-20 of 33) with videos related to

Sort By:
Pageof 4
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 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.
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|June 30, 2006
Constitutive upregulations of titin-based signalling proteins in KY deficient musclesJane Beatham, Katja Gehmlich, Peter F M van der Ven, 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.
Journal of Neurology|November 28, 2025
Characterization of novel CASQ1 variants in two families with unusual phenotypic featuresMilla Laarne, Manu Jokela, Fang Zhao, et al.
Annals of Neurology|February 13, 2013
Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1Peter Hackman, Jaakko Sarparanta, Sara Lehtinen, et al.
Cell Metabolism|June 26, 2018
Autophagy Regulates the Liver Clock and Glucose Metabolism by Degrading CRY1Miriam Toledo, Ana Batista-Gonzalez, Emilio Merheb, et al.
Journal of Neuromuscular Diseases|May 21, 2025
A homozygous single-nucleotide variant in <i>TNNT1</i> causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case reportMilla Laarne, Ali Oghabian, Jenni Laitila, et al.
Pageof 4