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Kristi J Jones

Showing results (11-20 of 47) with videos related to

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HGG Advances|July 18, 2022
Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zoneSamantha J Bryen, Michaela Yuen, Himanshu Joshi, et al.
American Journal of Medical Genetics. Part A|June 22, 2021
L-carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trialEmily R Vasiljevski, Joshua Burns, Paula Bray, et al.
Molecular Genetics and Metabolism|August 4, 2022
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertainSarah Righetti, Richard J N Allcock, Joy Yaplito-Lee, et al.
The Lancet Regional Health. Western Pacific|November 19, 2024
A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based studyLakshmi Balaji, Robin Forbes, Anita Cairns, et al.
Neuromuscular Disorders : NMD|November 11, 2019
Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variantsHannah F Jones, Samantha J Bryen, Leigh B Waddell, et al.
Journal of Paediatrics and Child Health|April 12, 2024
Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicineAlan Ma, Timothy P Newing, Rosie O'Shea, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|March 18, 2018
Nusinersen for SMA: expanded access programmeMichelle A Farrar, Hooi Ling Teoh, Kate A Carey, et al.
Human Mutation|December 22, 2017
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variantSarah A Sandaradura, Adam Bournazos, Amali Mallawaarachchi, et al.
Journal of Cachexia, Sarcopenia and Muscle|August 15, 2025
High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2Zoe White, Laura Rufibach, Heather Gordish Dressman, et al.
Journal of Neurology|May 26, 2026
Identification of prognostic biomarkers in a large cohort of patients with LGMD R2Carla F Bolano-Diaz, Jose Verdu-Diaz, Dan Hao, et al.
Pageof 5

Showing results (11-20 of 47) with videos related to

Sort By:
Pageof 5
HGG Advances|July 18, 2022
Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zoneSamantha J Bryen, Michaela Yuen, Himanshu Joshi, et al.
American Journal of Medical Genetics. Part A|June 22, 2021
L-carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trialEmily R Vasiljevski, Joshua Burns, Paula Bray, et al.
Molecular Genetics and Metabolism|August 4, 2022
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertainSarah Righetti, Richard J N Allcock, Joy Yaplito-Lee, et al.
The Lancet Regional Health. Western Pacific|November 19, 2024
A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based studyLakshmi Balaji, Robin Forbes, Anita Cairns, et al.
Neuromuscular Disorders : NMD|November 11, 2019
Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variantsHannah F Jones, Samantha J Bryen, Leigh B Waddell, et al.
Journal of Paediatrics and Child Health|April 12, 2024
Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicineAlan Ma, Timothy P Newing, Rosie O'Shea, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|March 18, 2018
Nusinersen for SMA: expanded access programmeMichelle A Farrar, Hooi Ling Teoh, Kate A Carey, et al.
Human Mutation|December 22, 2017
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variantSarah A Sandaradura, Adam Bournazos, Amali Mallawaarachchi, et al.
Journal of Cachexia, Sarcopenia and Muscle|August 15, 2025
High-Density Lipoprotein-Associated Cholesterol Abnormalities in a Clinical Outcomes Study of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2Zoe White, Laura Rufibach, Heather Gordish Dressman, et al.
Journal of Neurology|May 26, 2026
Identification of prognostic biomarkers in a large cohort of patients with LGMD R2Carla F Bolano-Diaz, Jose Verdu-Diaz, Dan Hao, et al.
Pageof 5