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Peter Hackman

Showing results (51-60 of 82) with videos related to

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Human Mutation|September 18, 2022
Mutation update for the ACTN2 geneJohanna Ranta-Aho, Montse Olive, Marie Vandroux, et al.
Histochemistry and Cell Biology|April 18, 2026
Fiber type-specific expression of LACTB leverages a function in oxidative metabolismKirsi-Marja Alanen, Rabah Soliymani, Jaakko Sarparanta, et al.
Human Molecular Genetics|November 26, 2025
C-terminal extension of HSPB6 in a family with myopathy and cataractJaakko Sarparanta, Per Harald Jonson, Anna Vihola, et al.
Annals of Neurology|March 23, 2019
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutationsMarco Savarese, Johanna Palmio, Juan José Poza, et al.
Journal of Medical Genetics|March 5, 2025
Gene prioritisation for enhancing molecular diagnosis in rare skeletal muscle disease cohortVictoria Lillback, Gaber Bergant, Maria Francesca Di Feo, et al.
Neurology. Genetics|November 1, 2021
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> GenePeter Hackman, Salla M Rusanen, Mridul Johari, et al.
Brain : a Journal of Neurology|May 12, 2012
Titin mutation segregates with hereditary myopathy with early respiratory failureGerald Pfeffer, Hannah R Elliott, Helen Griffin, et al.
Neurology. Genetics|August 13, 2021
Out-of-Frame Mutations in <i>ACTN2</i> Last Exon Cause a Dominant Distal Myopathy With Facial WeaknessMarco Savarese, Anna Vihola, Manu E Jokela, et al.
Neuromuscular Disorders : NMD|January 21, 2020
Mutations in the J domain of DNAJB6 cause dominant distal myopathyJohanna Palmio, Per Harald Jonson, Michio Inoue, et al.
Skeletal Muscle|April 8, 2025
Correction: OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle developmentAli Oghabian, Per Harald Jonson, Swethaa Natraj Gayathri, et al.
Pageof 9

Showing results (51-60 of 82) with videos related to

Sort By:
Pageof 9
Human Mutation|September 18, 2022
Mutation update for the ACTN2 geneJohanna Ranta-Aho, Montse Olive, Marie Vandroux, et al.
Histochemistry and Cell Biology|April 18, 2026
Fiber type-specific expression of LACTB leverages a function in oxidative metabolismKirsi-Marja Alanen, Rabah Soliymani, Jaakko Sarparanta, et al.
Human Molecular Genetics|November 26, 2025
C-terminal extension of HSPB6 in a family with myopathy and cataractJaakko Sarparanta, Per Harald Jonson, Anna Vihola, et al.
Annals of Neurology|March 23, 2019
Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutationsMarco Savarese, Johanna Palmio, Juan José Poza, et al.
Journal of Medical Genetics|March 5, 2025
Gene prioritisation for enhancing molecular diagnosis in rare skeletal muscle disease cohortVictoria Lillback, Gaber Bergant, Maria Francesca Di Feo, et al.
Neurology. Genetics|November 1, 2021
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the <i>HNRNPA1</i> GenePeter Hackman, Salla M Rusanen, Mridul Johari, et al.
Brain : a Journal of Neurology|May 12, 2012
Titin mutation segregates with hereditary myopathy with early respiratory failureGerald Pfeffer, Hannah R Elliott, Helen Griffin, et al.
Neurology. Genetics|August 13, 2021
Out-of-Frame Mutations in <i>ACTN2</i> Last Exon Cause a Dominant Distal Myopathy With Facial WeaknessMarco Savarese, Anna Vihola, Manu E Jokela, et al.
Neuromuscular Disorders : NMD|January 21, 2020
Mutations in the J domain of DNAJB6 cause dominant distal myopathyJohanna Palmio, Per Harald Jonson, Michio Inoue, et al.
Skeletal Muscle|April 8, 2025
Correction: OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle developmentAli Oghabian, Per Harald Jonson, Swethaa Natraj Gayathri, et al.
Pageof 9