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Kayal Vijayakumar

Showing results (1-10 of 12) with videos related to

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Neurology|July 8, 2020
Clinical Reasoning: Complex ataxia: Unpicking the threadsTarig Abkur, Kayal Vijayakumar, Amanda J Churchill, et al.
Developmental Medicine and Child Neurology|October 26, 2012
Experience of using electromyography of the genioglossus in the investigation of paediatric dysphagiaKayal Vijayakumar, Juliet Rockett, Martina Ryan, et al.
Pediatric Neurology|September 13, 2011
Clinical neuroimaging features and outcome in molybdenum cofactor deficiencyKayal Vijayakumar, Rox Gunny, Stephanie Grunewald, et al.
Case Reports in Pediatrics|September 17, 2025
Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in <i>CTBP1</i> Identified via Whole Genome SequencingSilvia Beatriz Sanchez Marco, Emily Pardington, Marie Monaghan, et al.
Neuromuscular Disorders : NMD|February 2, 2020
A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiencyShpresa Pula, Kathryn Urankar, Andrew Norman, et al.
American Journal of Medical Genetics. Part A|January 13, 2021
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelinationKatharine Edgerley, Angela Barnicoat, Amaka C Offiah, et al.
Neurology|February 28, 2018
Clinical features, course, and outcomes of a UK cohort of pediatric moyamoyaSara C Tho-Calvi, Dominic Thompson, Dawn Saunders, et al.
Journal of Neuromuscular Diseases|June 14, 2021
A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD TrialRichard S Finkel, Craig M McDonald, H Lee Sweeney, et al.
The Lancet Regional Health. Europe|January 3, 2024
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United KingdomVasantha Gowda, Mark Atherton, Archana Murugan, et al.
American Journal of Human Genetics|December 5, 2025
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxiaJames Fasham, Julia Rankin, Rachel Schot, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Neurology|July 8, 2020
Clinical Reasoning: Complex ataxia: Unpicking the threadsTarig Abkur, Kayal Vijayakumar, Amanda J Churchill, et al.
Developmental Medicine and Child Neurology|October 26, 2012
Experience of using electromyography of the genioglossus in the investigation of paediatric dysphagiaKayal Vijayakumar, Juliet Rockett, Martina Ryan, et al.
Pediatric Neurology|September 13, 2011
Clinical neuroimaging features and outcome in molybdenum cofactor deficiencyKayal Vijayakumar, Rox Gunny, Stephanie Grunewald, et al.
Case Reports in Pediatrics|September 17, 2025
Hypotonia, Ataxia, Developmental Delay and Tooth Enamel Defect Syndrome (HADDTS) due to a Heterozygous de Novo Missense Variant in <i>CTBP1</i> Identified via Whole Genome SequencingSilvia Beatriz Sanchez Marco, Emily Pardington, Marie Monaghan, et al.
Neuromuscular Disorders : NMD|February 2, 2020
A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiencyShpresa Pula, Kathryn Urankar, Andrew Norman, et al.
American Journal of Medical Genetics. Part A|January 13, 2021
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelinationKatharine Edgerley, Angela Barnicoat, Amaka C Offiah, et al.
Neurology|February 28, 2018
Clinical features, course, and outcomes of a UK cohort of pediatric moyamoyaSara C Tho-Calvi, Dominic Thompson, Dawn Saunders, et al.
Journal of Neuromuscular Diseases|June 14, 2021
A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD TrialRichard S Finkel, Craig M McDonald, H Lee Sweeney, et al.
The Lancet Regional Health. Europe|January 3, 2024
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United KingdomVasantha Gowda, Mark Atherton, Archana Murugan, et al.
American Journal of Human Genetics|December 5, 2025
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxiaJames Fasham, Julia Rankin, Rachel Schot, et al.
Pageof 2