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Peter Hackman

Showing results (31-40 of 82) with videos related to

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Journal of Neuromuscular Diseases|November 18, 2016
Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular DystrophyGabrielle Rudolf, Tiina Suominen, Sini Penttilä, et al.
Annals of Clinical and Translational Neurology|September 22, 2022
Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11Mridul Johari, George Papadimas, Constantinos Papadopoulos, 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.
The American Journal of Pathology|June 8, 2014
Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactionsMark Screen, Per Harald Jonson, Olayinka Raheem, 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.
Human Molecular Genetics|April 18, 2023
Extension of the DNAJB2a isoform in a dominant neuromyopathy familyJaakko Sarparanta, Per Harald Jonson, Jens Reimann, 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.
Journal of Neurology, Neurosurgery, and Psychiatry|May 9, 2015
Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new familyJohanna Palmio, Anni Evilä, Ayat Bashir, et al.
Muscle & Nerve|September 4, 2012
Expression of multiple nebulin isoforms in human skeletal muscle and brainJenni Laitila, Mubashir Hanif, Anders Paetau, et al.
The American Journal of Pathology|August 14, 2015
Differential isoform expression and selective muscle involvement in muscular dystrophiesSanna Huovinen, Sini Penttilä, Panu Somervuo, et al.
Pageof 9

Showing results (31-40 of 82) with videos related to

Sort By:
Pageof 9
Journal of Neuromuscular Diseases|November 18, 2016
Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular DystrophyGabrielle Rudolf, Tiina Suominen, Sini Penttilä, et al.
Annals of Clinical and Translational Neurology|September 22, 2022
Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11Mridul Johari, George Papadimas, Constantinos Papadopoulos, 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.
The American Journal of Pathology|June 8, 2014
Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactionsMark Screen, Per Harald Jonson, Olayinka Raheem, 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.
Human Molecular Genetics|April 18, 2023
Extension of the DNAJB2a isoform in a dominant neuromyopathy familyJaakko Sarparanta, Per Harald Jonson, Jens Reimann, 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.
Journal of Neurology, Neurosurgery, and Psychiatry|May 9, 2015
Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new familyJohanna Palmio, Anni Evilä, Ayat Bashir, et al.
Muscle & Nerve|September 4, 2012
Expression of multiple nebulin isoforms in human skeletal muscle and brainJenni Laitila, Mubashir Hanif, Anders Paetau, et al.
The American Journal of Pathology|August 14, 2015
Differential isoform expression and selective muscle involvement in muscular dystrophiesSanna Huovinen, Sini Penttilä, Panu Somervuo, et al.
Pageof 9