Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Peter Hackman

Showing results (61-70 of 82) with videos related to

Pageof 9
Sort By:
Skeletal Muscle|March 2, 2025
OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle developmentAli Oghabian, Per Harald Jonson, Swethaa Natraj Gayathri, et al.
American Journal of Human Genetics|August 5, 2005
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European originAnna H Hakonen, Silja Heiskanen, Vesa Juvonen, et al.
Annals of Neurology|January 8, 2014
Atypical phenotypes in titinopathies explained by second titin mutationsAnni Evilä, Anna Vihola, Jaakko Sarparanta, et al.
Molecular Neurobiology|November 1, 2016
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal TitinopathyAnni Evilä, Johanna Palmio, Anna Vihola, et al.
Science (New York, N.Y.)|April 2, 2005
The kinase domain of titin controls muscle gene expression and protein turnoverStephan Lange, Fengqing Xiang, Andrey Yakovenko, et al.
Nature Genetics|February 28, 2012
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophyJaakko Sarparanta, Per Harald Jonson, Christelle Golzio, et al.
Plos One|October 27, 2017
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophyDaniela Rossi, Johanna Palmio, Anni Evilä, et al.
Neurology|January 1, 2016
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyRoula Ghaoui, Johanna Palmio, Janice Brewer, et al.
Acta Neuropathologica|May 11, 2021
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusionsMridul Johari, Jaakko Sarparanta, Anna Vihola, et al.
Journal of Neurology|January 23, 2019
Expanding the importance of HMERF titinopathy: new mutations and clinical aspectsJohanna Palmio, Sarah Leonard-Louis, Sabrina Sacconi, et al.
Pageof 9

Showing results (61-70 of 82) with videos related to

Sort By:
Pageof 9
Skeletal Muscle|March 2, 2025
OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle developmentAli Oghabian, Per Harald Jonson, Swethaa Natraj Gayathri, et al.
American Journal of Human Genetics|August 5, 2005
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European originAnna H Hakonen, Silja Heiskanen, Vesa Juvonen, et al.
Annals of Neurology|January 8, 2014
Atypical phenotypes in titinopathies explained by second titin mutationsAnni Evilä, Anna Vihola, Jaakko Sarparanta, et al.
Molecular Neurobiology|November 1, 2016
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal TitinopathyAnni Evilä, Johanna Palmio, Anna Vihola, et al.
Science (New York, N.Y.)|April 2, 2005
The kinase domain of titin controls muscle gene expression and protein turnoverStephan Lange, Fengqing Xiang, Andrey Yakovenko, et al.
Nature Genetics|February 28, 2012
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophyJaakko Sarparanta, Per Harald Jonson, Christelle Golzio, et al.
Plos One|October 27, 2017
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophyDaniela Rossi, Johanna Palmio, Anni Evilä, et al.
Neurology|January 1, 2016
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyRoula Ghaoui, Johanna Palmio, Janice Brewer, et al.
Acta Neuropathologica|May 11, 2021
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusionsMridul Johari, Jaakko Sarparanta, Anna Vihola, et al.
Journal of Neurology|January 23, 2019
Expanding the importance of HMERF titinopathy: new mutations and clinical aspectsJohanna Palmio, Sarah Leonard-Louis, Sabrina Sacconi, et al.
Pageof 9