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Showing results (1041-1050 of 1,067) with videos related to

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American Journal of Human Genetics|November 20, 2020
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric CoresSandra Donkervoort, Carl E Kutzner, Ying Hu, et al.
European Journal of Heart Failure|May 29, 2021
Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathyMaria A Restrepo-Cordoba, Karim Wahbi, Anca R Florian, et al.
The New England Journal of Medicine|February 7, 2014
Multiple phenotypes in phosphoglucomutase 1 deficiencyLaura C Tegtmeyer, Stephan Rust, Monique van Scherpenzeel, et al.
JACC. Clinical Electrophysiology|June 6, 2024
Mode and Characteristics of Arrhythmia Initiation in Idiopathic Ventricular Fibrillation: A THESIS SubstudyBernard Belhassen, Giulio Conte, Christian Steinberg, et al.
Neurology. Genetics|August 17, 2023
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem ProteinopathyMarianela Schiava, Chiseko Ikenaga, Ana Topf, et al.
Brain : a Journal of Neurology|May 2, 2024
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosisJulian Theuriet, Marion Masingue, Anthony Behin, et al.
Nature Genetics|May 28, 2020
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Neurology|November 4, 2020
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>Jan Senderek, Petra Lassuthova, Dagmara Kabzińska, et al.
Nature Communications|July 27, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestryAndrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.
Brain : a Journal of Neurology|January 9, 2024
Role of the repeat expansion size in predicting age of onset and severity in RFC1 diseaseRiccardo Currò, Natalia Dominik, Stefano Facchini, et al.
Pageof 107

Showing results (1041-1050 of 1,067) with videos related to

Sort By:
Pageof 107
American Journal of Human Genetics|November 20, 2020
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric CoresSandra Donkervoort, Carl E Kutzner, Ying Hu, et al.
European Journal of Heart Failure|May 29, 2021
Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathyMaria A Restrepo-Cordoba, Karim Wahbi, Anca R Florian, et al.
The New England Journal of Medicine|February 7, 2014
Multiple phenotypes in phosphoglucomutase 1 deficiencyLaura C Tegtmeyer, Stephan Rust, Monique van Scherpenzeel, et al.
JACC. Clinical Electrophysiology|June 6, 2024
Mode and Characteristics of Arrhythmia Initiation in Idiopathic Ventricular Fibrillation: A THESIS SubstudyBernard Belhassen, Giulio Conte, Christian Steinberg, et al.
Neurology. Genetics|August 17, 2023
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem ProteinopathyMarianela Schiava, Chiseko Ikenaga, Ana Topf, et al.
Brain : a Journal of Neurology|May 2, 2024
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosisJulian Theuriet, Marion Masingue, Anthony Behin, et al.
Nature Genetics|May 28, 2020
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Neurology|November 4, 2020
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on <i>MME</i>Jan Senderek, Petra Lassuthova, Dagmara Kabzińska, et al.
Nature Communications|July 27, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestryAndrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.
Brain : a Journal of Neurology|January 9, 2024
Role of the repeat expansion size in predicting age of onset and severity in RFC1 diseaseRiccardo Currò, Natalia Dominik, Stefano Facchini, et al.
Pageof 107