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Peter Hackman

Showing results (71-80 of 82) with videos related to

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Journal of Neuromuscular Diseases|February 11, 2020
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal MyopathiesMarco Savarese, Mridul Johari, Katherine Johnson, et al.
American Journal of Human Genetics|May 31, 2011
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathyRachael M Duff, Valerie Tay, Peter Hackman, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 24, 2025
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendationsMaria Francesca Di Feo, Ida Paramonov, Leslie Matalonga Borrel, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|April 23, 2013
Hereditary myopathy with early respiratory failure: occurrence in various populationsJohanna Palmio, Anni Evilä, Françoise Chapon, et al.
Annals of Clinical and Translational Neurology|August 29, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrumMaria Francesca Di Feo, Ali Oghabian, Ella Nippala, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic featuresJonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 2, 2025
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathyJonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2020
Genotype-phenotype correlations in recessive titinopathiesMarco Savarese, Anna Vihola, Emily C Oates, et al.
JAMA Neurology|February 14, 2018
Interpreting Genetic Variants in Titin in Patients With Muscle DisordersMarco Savarese, Lorenzo Maggi, Anna Vihola, et al.
Pageof 9

Showing results (71-80 of 82) with videos related to

Sort By:
Pageof 9
Journal of Neuromuscular Diseases|February 11, 2020
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal MyopathiesMarco Savarese, Mridul Johari, Katherine Johnson, et al.
American Journal of Human Genetics|May 31, 2011
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathyRachael M Duff, Valerie Tay, Peter Hackman, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 24, 2025
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendationsMaria Francesca Di Feo, Ida Paramonov, Leslie Matalonga Borrel, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|April 23, 2013
Hereditary myopathy with early respiratory failure: occurrence in various populationsJohanna Palmio, Anni Evilä, Françoise Chapon, et al.
Annals of Clinical and Translational Neurology|August 29, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrumMaria Francesca Di Feo, Ali Oghabian, Ella Nippala, et al.
Medrxiv : the Preprint Server for Health Sciences|October 7, 2024
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic featuresJonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 2, 2025
Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathyJonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2020
Genotype-phenotype correlations in recessive titinopathiesMarco Savarese, Anna Vihola, Emily C Oates, et al.
JAMA Neurology|February 14, 2018
Interpreting Genetic Variants in Titin in Patients With Muscle DisordersMarco Savarese, Lorenzo Maggi, Anna Vihola, et al.
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