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Per Harald Jonson

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

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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.
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|September 5, 2015
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D diseaseJohanna Palmio, Per Harald Jonson, Anni Evilä, et al.
Journal of Neuromuscular Diseases|June 30, 2020
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio)Marco Savarese, Talha Qureshi, Annalaura Torella, 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.
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.
Neurology|March 8, 2019
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathyManu Jokela, Giorgio Tasca, Anna Vihola, 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.
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.
Pageof 4

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

Sort By:
Pageof 4
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.
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|September 5, 2015
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D diseaseJohanna Palmio, Per Harald Jonson, Anni Evilä, et al.
Journal of Neuromuscular Diseases|June 30, 2020
Identification and Characterization of Splicing Defects by Single-Molecule Real-Time Sequencing Technology (PacBio)Marco Savarese, Talha Qureshi, Annalaura Torella, 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.
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.
Neurology|March 8, 2019
An unusual ryanodine receptor 1 (RYR1) phenotype: Mild calf-predominant myopathyManu Jokela, Giorgio Tasca, Anna Vihola, 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.
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.
Pageof 4