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Elizabeth Harris

Showing results (161-170 of 176) with videos related to

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European Journal of Human Genetics : EJHG|June 4, 2025
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell modelsBarbara Tedesco, Stojan Peric, Goknur Selen Kocak, et al.
Brain : a Journal of Neurology|November 7, 2016
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportionNasim Vasli, Elizabeth Harris, Jason Karamchandani, et al.
Neurology. Genetics|July 13, 2023
Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent TrajectoriesRobert Muni-Lofra, Eduard Juanola-Mayos, Marianela Schiava, et al.
American Journal of Human Genetics|November 3, 2023
The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary careJason L Vassy, Charles A Brunette, Matthew S Lebo, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 27, 2026
Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal studyPietro Riguzzi, Emma Grover, Marianela Schiava, et al.
Journal of Neurology|June 7, 2025
Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelinesPietro Riguzzi, Holly Borland, Meredith K James, et al.
JAMA Network Open|May 31, 2023
Effect of Perioperative Palliative Care on Health-Related Quality of Life Among Patients Undergoing Surgery for Cancer: A Randomized Clinical TrialRebecca A Aslakson, Elizabeth Rickerson, Bridget Fahy, et al.
Muscle & Nerve|February 18, 2022
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal studyUrsula Moore, Roberto Fernandez-Torron, Marni Jacobs, et al.
Neurology. Genetics|September 8, 2016
The Clinical Outcome Study for dysferlinopathy: An international multicenter studyElizabeth Harris, Catherine L Bladen, Anna Mayhew, et al.
Human Mutation|April 23, 2013
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutationAnna Sarkozy, Debbie Hicks, Judith Hudson, et al.
Pageof 18

Showing results (161-170 of 176) with videos related to

Sort By:
Pageof 18
European Journal of Human Genetics : EJHG|June 4, 2025
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell modelsBarbara Tedesco, Stojan Peric, Goknur Selen Kocak, et al.
Brain : a Journal of Neurology|November 7, 2016
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportionNasim Vasli, Elizabeth Harris, Jason Karamchandani, et al.
Neurology. Genetics|July 13, 2023
Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent TrajectoriesRobert Muni-Lofra, Eduard Juanola-Mayos, Marianela Schiava, et al.
American Journal of Human Genetics|November 3, 2023
The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary careJason L Vassy, Charles A Brunette, Matthew S Lebo, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 27, 2026
Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal studyPietro Riguzzi, Emma Grover, Marianela Schiava, et al.
Journal of Neurology|June 7, 2025
Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelinesPietro Riguzzi, Holly Borland, Meredith K James, et al.
JAMA Network Open|May 31, 2023
Effect of Perioperative Palliative Care on Health-Related Quality of Life Among Patients Undergoing Surgery for Cancer: A Randomized Clinical TrialRebecca A Aslakson, Elizabeth Rickerson, Bridget Fahy, et al.
Muscle & Nerve|February 18, 2022
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal studyUrsula Moore, Roberto Fernandez-Torron, Marni Jacobs, et al.
Neurology. Genetics|September 8, 2016
The Clinical Outcome Study for dysferlinopathy: An international multicenter studyElizabeth Harris, Catherine L Bladen, Anna Mayhew, et al.
Human Mutation|April 23, 2013
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutationAnna Sarkozy, Debbie Hicks, Judith Hudson, et al.
Pageof 18