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A Reghan Foley

Showing results (101-110 of 114) with videos related to

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Neurology|October 27, 2019
Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophiesMinal S Jain, Katherine Meilleur, Eunhee Kim, et al.
Ebiomedicine|December 12, 2023
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trialMichael W Lawlor, Benedikt Schoser, Marta Margeta, et al.
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.
Acta Neuropathologica|August 30, 2019
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvementS Donkervoort, R Sabouny, P Yun, et al.
Science Translational Medicine|April 3, 2024
Pathogenic <i>TNNI1</i> variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle diseaseSandra Donkervoort, Martijn van de Locht, Dario Ronchi, et al.
Medrxiv : the Preprint Server for Health Sciences|July 2, 2026
A class of deep intronic <i>IGHMBP2</i> variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotideSarah Silverstein, Andrew D Nguyen, Rotem Orbach, et al.
Nature Medicine|June 1, 2021
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesisPayam Mohassel, Sandra Donkervoort, Museer A Lone, et al.
Brain : a Journal of Neurology|February 9, 2021
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathyAlistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, et al.
Brain : a Journal of Neurology|November 21, 2013
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2A Reghan Foley, Manoj P Menezes, Amelie Pandraud, et al.
Nature Communications|April 28, 2022
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophyHong Joo Kim, Payam Mohassel, Sandra Donkervoort, et al.
Pageof 12

Showing results (101-110 of 114) with videos related to

Sort By:
Pageof 12
Neurology|October 27, 2019
Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophiesMinal S Jain, Katherine Meilleur, Eunhee Kim, et al.
Ebiomedicine|December 12, 2023
Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trialMichael W Lawlor, Benedikt Schoser, Marta Margeta, et al.
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.
Acta Neuropathologica|August 30, 2019
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvementS Donkervoort, R Sabouny, P Yun, et al.
Science Translational Medicine|April 3, 2024
Pathogenic <i>TNNI1</i> variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle diseaseSandra Donkervoort, Martijn van de Locht, Dario Ronchi, et al.
Medrxiv : the Preprint Server for Health Sciences|July 2, 2026
A class of deep intronic <i>IGHMBP2</i> variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotideSarah Silverstein, Andrew D Nguyen, Rotem Orbach, et al.
Nature Medicine|June 1, 2021
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesisPayam Mohassel, Sandra Donkervoort, Museer A Lone, et al.
Brain : a Journal of Neurology|February 9, 2021
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathyAlistair T Pagnamenta, Rauan Kaiyrzhanov, Yaqun Zou, et al.
Brain : a Journal of Neurology|November 21, 2013
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2A Reghan Foley, Manoj P Menezes, Amelie Pandraud, et al.
Nature Communications|April 28, 2022
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophyHong Joo Kim, Payam Mohassel, Sandra Donkervoort, et al.
Pageof 12