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Journal of Cachexia, Sarcopenia and Muscle
|
April 4, 2022
Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy
Harmen Reyngoudt, Fiona E Smith, Ericky Caldas de Almeida Araújo, et al.
Neuromuscular Disorders : NMD
|
February 21, 2021
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
Ursula Moore, Heather Gordish, Jordi Diaz-Manera, et al.
Neurology
|
July 8, 2018
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation
Karlien Mul, Richard J L F Lemmers, Marjolein Kriek, et al.
Journal of Neuromuscular Diseases
|
February 5, 2019
Exploration of New Contrasts, Targets, and MR Imaging and Spectroscopy Techniques for Neuromuscular Disease - A Workshop Report of Working Group 3 of the Biomedicine and Molecular Biosciences COST Action BM1304 MYO-MRI
Gustav J Strijkers, Ericky C A Araujo, Noura Azzabou, et al.
Annals of Clinical and Translational Neurology
|
February 9, 2025
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants
Riley M McCarty, Dimah Saade, Pinki Munot, et al.
The Lancet. Neurology
|
November 20, 2021
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
Jordi Diaz-Manera, Priya S Kishnani, Hani Kushlaf, et al.
Annals of Neurology
|
May 14, 2020
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome
A Reghan Foley, Yaqun Zou, James E Dunford, et al.
Nature Genetics
|
October 4, 2022
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea
Janina Sörmann, Marcus Schewe, Peter Proks, et al.
Plos One
|
June 25, 2021
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up
Giorgia Coratti, Marika Pane, Claudia Brogna, et al.
Brain : a Journal of Neurology
|
February 17, 2024
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features
Pablo Iruzubieta, Alberto Damborenea, Mihaela Ioghen, et al.
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Search research articles
Search
Showing results (301-310 of 374) with videos related to
Sort By:
Page
of 38
Journal of Cachexia, Sarcopenia and Muscle
|
April 4, 2022
Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy
Harmen Reyngoudt, Fiona E Smith, Ericky Caldas de Almeida Araújo, et al.
Neuromuscular Disorders : NMD
|
February 21, 2021
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
Ursula Moore, Heather Gordish, Jordi Diaz-Manera, et al.
Neurology
|
July 8, 2018
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation
Karlien Mul, Richard J L F Lemmers, Marjolein Kriek, et al.
Journal of Neuromuscular Diseases
|
February 5, 2019
Exploration of New Contrasts, Targets, and MR Imaging and Spectroscopy Techniques for Neuromuscular Disease - A Workshop Report of Working Group 3 of the Biomedicine and Molecular Biosciences COST Action BM1304 MYO-MRI
Gustav J Strijkers, Ericky C A Araujo, Noura Azzabou, et al.
Annals of Clinical and Translational Neurology
|
February 9, 2025
Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants
Riley M McCarty, Dimah Saade, Pinki Munot, et al.
The Lancet. Neurology
|
November 20, 2021
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
Jordi Diaz-Manera, Priya S Kishnani, Hani Kushlaf, et al.
Annals of Neurology
|
May 14, 2020
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome
A Reghan Foley, Yaqun Zou, James E Dunford, et al.
Nature Genetics
|
October 4, 2022
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea
Janina Sörmann, Marcus Schewe, Peter Proks, et al.
Plos One
|
June 25, 2021
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up
Giorgia Coratti, Marika Pane, Claudia Brogna, et al.
Brain : a Journal of Neurology
|
February 17, 2024
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features
Pablo Iruzubieta, Alberto Damborenea, Mihaela Ioghen, et al.
Page
of 38