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Showing results (81-90 of 88) with videos related to

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Neuromuscular Disorders : NMD|January 16, 2021
Corrigendum to "Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy" [Neuromuscular Disorders, Vol. 30 (6) 2020, 492-502]Kathryn R Wagner, Hoda Z Abdel-Hamid, Jean K Mah, et al.
Drugs in R&D|May 28, 2025
Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular DystrophyLuca Bello, Pietro Riguzzi, Emilio Albamonte, et al.
Neurology. Clinical Practice|June 27, 2024
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3Federica Trucco, Deborah Ridout, Harriet Weststrate, et al.
American Journal of Human Genetics|April 13, 2023
Bi-allelic variants in INTS11 are associated with a complex neurological disorderBurak Tepe, Erica L Macke, Marcello Niceta, et al.
American Journal of Human Genetics|December 1, 2014
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathyRobert Kopajtich, Thomas J Nicholls, Joanna Rorbach, et al.
The Lancet. Diabetes & Endocrinology|August 5, 2019
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trialStefan Groeneweg, Robin P Peeters, Carla Moran, et al.
American Journal of Human Genetics|September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variantsJordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
The Lancet. Diabetes & Endocrinology|June 20, 2020
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort studyStefan Groeneweg, Ferdy S van Geest, Ayhan Abacı, et al.
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Showing results (81-90 of 88) with videos related to

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Pageof 9
You have reached the last page of results.This site can display upto 88 results.
Neuromuscular Disorders : NMD|January 16, 2021
Corrigendum to "Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy" [Neuromuscular Disorders, Vol. 30 (6) 2020, 492-502]Kathryn R Wagner, Hoda Z Abdel-Hamid, Jean K Mah, et al.
Drugs in R&D|May 28, 2025
Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular DystrophyLuca Bello, Pietro Riguzzi, Emilio Albamonte, et al.
Neurology. Clinical Practice|June 27, 2024
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3Federica Trucco, Deborah Ridout, Harriet Weststrate, et al.
American Journal of Human Genetics|April 13, 2023
Bi-allelic variants in INTS11 are associated with a complex neurological disorderBurak Tepe, Erica L Macke, Marcello Niceta, et al.
American Journal of Human Genetics|December 1, 2014
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathyRobert Kopajtich, Thomas J Nicholls, Joanna Rorbach, et al.
The Lancet. Diabetes & Endocrinology|August 5, 2019
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trialStefan Groeneweg, Robin P Peeters, Carla Moran, et al.
American Journal of Human Genetics|September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variantsJordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
The Lancet. Diabetes & Endocrinology|June 20, 2020
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort studyStefan Groeneweg, Ferdy S van Geest, Ayhan Abacı, et al.
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