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Anna Sarkozy

Showing results (111-120 of 137) with videos related to

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Nature Genetics|July 3, 2007
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathyBhaswati Pandit, Anna Sarkozy, Len A Pennacchio, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 14, 2018
Mobility shift of beta-dystroglycan as a marker of <i>GMPPB</i> gene-related muscular dystrophyAnna Sarkozy, Silvia Torelli, Rachael Mein, et al.
Human Mutation|April 5, 2012
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathiesAndrea Klein, Suzanne Lillis, Iulia Munteanu, et al.
Annals of Neurology|April 13, 2024
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1ACarolynne M Doherty, Paige Howard, Luke F O'Donnell, et al.
American Journal of Medical Genetics. Part A|April 20, 2026
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and CounselingAnnie D Niehaus, Devon E Bonner, Jennefer Carter, et al.
Journal of Neuromuscular Diseases|June 10, 2025
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert PanelJustyne E Ross, May Flowers, Shannon McNulty, et al.
Human Mutation|September 1, 2018
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibilityIrina T Zaharieva, Anna Sarkozy, Pinki Munot, et al.
JCI Insight|March 22, 2019
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapiesVéronique Bolduc, A Reghan Foley, Herimela Solomon-Degefa, et al.
Brain : a Journal of Neurology|December 25, 2015
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathyIrina T Zaharieva, Michael G Thor, Emily C Oates, 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.
Pageof 14

Showing results (111-120 of 137) with videos related to

Sort By:
Pageof 14
Nature Genetics|July 3, 2007
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathyBhaswati Pandit, Anna Sarkozy, Len A Pennacchio, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|February 14, 2018
Mobility shift of beta-dystroglycan as a marker of <i>GMPPB</i> gene-related muscular dystrophyAnna Sarkozy, Silvia Torelli, Rachael Mein, et al.
Human Mutation|April 5, 2012
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathiesAndrea Klein, Suzanne Lillis, Iulia Munteanu, et al.
Annals of Neurology|April 13, 2024
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1ACarolynne M Doherty, Paige Howard, Luke F O'Donnell, et al.
American Journal of Medical Genetics. Part A|April 20, 2026
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and CounselingAnnie D Niehaus, Devon E Bonner, Jennefer Carter, et al.
Journal of Neuromuscular Diseases|June 10, 2025
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert PanelJustyne E Ross, May Flowers, Shannon McNulty, et al.
Human Mutation|September 1, 2018
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibilityIrina T Zaharieva, Anna Sarkozy, Pinki Munot, et al.
JCI Insight|March 22, 2019
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapiesVéronique Bolduc, A Reghan Foley, Herimela Solomon-Degefa, et al.
Brain : a Journal of Neurology|December 25, 2015
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathyIrina T Zaharieva, Michael G Thor, Emily C Oates, 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.
Pageof 14