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A Reghan Foley

Showing results (71-80 of 114) with videos related to

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American Journal of Human Genetics|March 5, 2013
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycanElizabeth Stevens, Keren J Carss, Sebahattin Cirak, et al.
Neurology|August 1, 2014
Observational study of spinal muscular atrophy type I and implications for clinical trialsRichard S Finkel, Michael P McDermott, Petra Kaufmann, et al.
Eclinicalmedicine|February 6, 2024
Rycal S48168 (ARM210) for <i>RYR1</i>-related myopathies: a phase one, open-label, dose-escalation trialJoshua J Todd, Tokunbor A Lawal, Irene C Chrismer, et al.
The Journal of Clinical Investigation|March 23, 2021
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calciumMartijn van de Locht, Sandra Donkervoort, Josine M de Winter, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 2, 2023
Recurrent de novo <i>SPTLC2</i> variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesisSafoora B Syeda, Museer A Lone, Payam Mohassel, et al.
Therapeutic Advances in Rare Disease|September 22, 2025
Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO studyPerry B Shieh, Wendy Hughes, Marie Wood, et al.
American Journal of Human Genetics|May 14, 2013
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegiaEmily C Oates, Alexander M Rossor, Majid Hafezparast, et al.
Archives of Neurology|February 16, 2011
Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 yearPetra Kaufmann, Michael P McDermott, Basil T Darras, et al.
Annals of Clinical and Translational Neurology|February 9, 2025
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variantsRiley M McCarty, Dimah Saade, Pinki Munot, et al.
Journal of Neuromuscular Diseases|March 22, 2021
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related MyopathiesRocío N Villar-Quiles, Sandra Donkervoort, Alix de Becdelièvre, et al.
Pageof 12

Showing results (71-80 of 114) with videos related to

Sort By:
Pageof 12
American Journal of Human Genetics|March 5, 2013
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycanElizabeth Stevens, Keren J Carss, Sebahattin Cirak, et al.
Neurology|August 1, 2014
Observational study of spinal muscular atrophy type I and implications for clinical trialsRichard S Finkel, Michael P McDermott, Petra Kaufmann, et al.
Eclinicalmedicine|February 6, 2024
Rycal S48168 (ARM210) for <i>RYR1</i>-related myopathies: a phase one, open-label, dose-escalation trialJoshua J Todd, Tokunbor A Lawal, Irene C Chrismer, et al.
The Journal of Clinical Investigation|March 23, 2021
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calciumMartijn van de Locht, Sandra Donkervoort, Josine M de Winter, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 2, 2023
Recurrent de novo <i>SPTLC2</i> variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesisSafoora B Syeda, Museer A Lone, Payam Mohassel, et al.
Therapeutic Advances in Rare Disease|September 22, 2025
Gene therapy for children with X-linked myotubular myopathy: a plain language summary of publication for the ASPIRO studyPerry B Shieh, Wendy Hughes, Marie Wood, et al.
American Journal of Human Genetics|May 14, 2013
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegiaEmily C Oates, Alexander M Rossor, Majid Hafezparast, et al.
Archives of Neurology|February 16, 2011
Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 yearPetra Kaufmann, Michael P McDermott, Basil T Darras, et al.
Annals of Clinical and Translational Neurology|February 9, 2025
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variantsRiley M McCarty, Dimah Saade, Pinki Munot, et al.
Journal of Neuromuscular Diseases|March 22, 2021
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related MyopathiesRocío N Villar-Quiles, Sandra Donkervoort, Alix de Becdelièvre, et al.
Pageof 12