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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|March 2, 2025
OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle developmentAli Oghabian, Per Harald Jonson, Swethaa Natraj Gayathri, 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.
Annals of Clinical and Translational Neurology|August 3, 2024
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregationJohanna Ranta-Aho, Kevin J Felice, Per Harald Jonson, 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.
Neurology|January 1, 2016
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyRoula Ghaoui, Johanna Palmio, Janice Brewer, et al.
Medrxiv : the Preprint Server for Health Sciences|January 31, 2024
Rare <i>ACTN2</i> Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein AggregationJohanna Ranta-Aho, Kevin J Felice, Per Harald Jonson, 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.
The Journal of Clinical Investigation|February 20, 2018
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutationsYouJin Lee, Per Harald Jonson, Jaakko Sarparanta, et al.
European Journal of Human Genetics : EJHG|June 14, 2025
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletionsLydia Sagath, Kirsi Kiiski, Kireshnee Naidu, et al.
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