Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Corrie E Erasmus

Showing results (81-90 of 91) with videos related to

Pageof 10
Sort By:
Muscle & Nerve|March 5, 2026
Key Principles and Disease-Specific Considerations to Guide Management of Bone Health and Osteoporosis Among Individuals With Neuromuscular Disorders: The Path ForwardDavid R Weber, Antimo Moretti, Anne T M Dittrich, et al.
Neurology. Genetics|May 12, 2021
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, et al.
Neuromuscular Disorders : NMD|August 24, 2024
A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the NetherlandsEsmee S B van Kleef, Sanne A J H van de Camp, Jan T Groothuis, et al.
Brain : a Journal of Neurology|September 13, 2023
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophyRichard J L F Lemmers, Russell Butterfield, Patrick J van der Vliet, et al.
Orphanet Journal of Rare Diseases|July 18, 2018
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophyHugh J McMillan, Aida Telegrafi, Amanda Singleton, et al.
Brain : a Journal of Neurology|February 11, 2020
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patientsJoery P Molenaar, Jamie I Verhoeven, Richard J Rodenburg, et al.
BMC Neurology|August 13, 2021
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG studyKarlijn Bouman, Jan T Groothuis, Jonne Doorduin, et al.
Journal of Neuromuscular Diseases|May 26, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic ServiceDineke Westra, Meyke I Schouten, Bas C Stunnenberg, et al.
Neurology|February 12, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsyHannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, et al.
American Journal of Human Genetics|November 27, 2012
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegiaJanneke H M Schuurs-Hoeijmakers, Michael T Geraghty, Erik-Jan Kamsteeg, et al.
Pageof 10

Showing results (81-90 of 91) with videos related to

Sort By:
Pageof 10
Muscle & Nerve|March 5, 2026
Key Principles and Disease-Specific Considerations to Guide Management of Bone Health and Osteoporosis Among Individuals With Neuromuscular Disorders: The Path ForwardDavid R Weber, Antimo Moretti, Anne T M Dittrich, et al.
Neurology. Genetics|May 12, 2021
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, et al.
Neuromuscular Disorders : NMD|August 24, 2024
A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the NetherlandsEsmee S B van Kleef, Sanne A J H van de Camp, Jan T Groothuis, et al.
Brain : a Journal of Neurology|September 13, 2023
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophyRichard J L F Lemmers, Russell Butterfield, Patrick J van der Vliet, et al.
Orphanet Journal of Rare Diseases|July 18, 2018
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophyHugh J McMillan, Aida Telegrafi, Amanda Singleton, et al.
Brain : a Journal of Neurology|February 11, 2020
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patientsJoery P Molenaar, Jamie I Verhoeven, Richard J Rodenburg, et al.
BMC Neurology|August 13, 2021
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG studyKarlijn Bouman, Jan T Groothuis, Jonne Doorduin, et al.
Journal of Neuromuscular Diseases|May 26, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic ServiceDineke Westra, Meyke I Schouten, Bas C Stunnenberg, et al.
Neurology|February 12, 2016
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsyHannah Stamberger, Marina Nikanorova, Marjolein H Willemsen, et al.
American Journal of Human Genetics|November 27, 2012
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegiaJanneke H M Schuurs-Hoeijmakers, Michael T Geraghty, Erik-Jan Kamsteeg, et al.
Pageof 10