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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 models
Barbara 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 disproportion
Nasim 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 Trajectories
Robert 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 care
Jason 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 study
Pietro 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 guidelines
Pietro 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 Trial
Rebecca A Aslakson, Elizabeth Rickerson, Bridget Fahy, et al.
Muscle & Nerve
|
February 18, 2022
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study
Ursula Moore, Roberto Fernandez-Torron, Marni Jacobs, et al.
Neurology. Genetics
|
September 8, 2016
The Clinical Outcome Study for dysferlinopathy: An international multicenter study
Elizabeth 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 mutation
Anna Sarkozy, Debbie Hicks, Judith Hudson, et al.
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of 18
Search research articles
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Showing results (161-170 of 176) with videos related to
Sort By:
Page
of 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 models
Barbara 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 disproportion
Nasim 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 Trajectories
Robert 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 care
Jason 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 study
Pietro 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 guidelines
Pietro 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 Trial
Rebecca A Aslakson, Elizabeth Rickerson, Bridget Fahy, et al.
Muscle & Nerve
|
February 18, 2022
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study
Ursula Moore, Roberto Fernandez-Torron, Marni Jacobs, et al.
Neurology. Genetics
|
September 8, 2016
The Clinical Outcome Study for dysferlinopathy: An international multicenter study
Elizabeth 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 mutation
Anna Sarkozy, Debbie Hicks, Judith Hudson, et al.
Page
of 18