Found: 31
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Reductions in functional muscle mass and ability to ambulate in Duchenne muscular dystrophy from ages 4 to 24 years.
- Published in:
- Journal of Physiology, 2024, v. 602, n. 19, p. 4929, doi. 10.1113/JP287069
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- Article
A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 54, doi. 10.3390/ijns10030054
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- Article
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.
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- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 34, doi. 10.3390/ijns10020034
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- Article
Sex-Specific Quantitative Trait Loci Govern Susceptibility to Theiler's Murine Encephalomyelitis Virus-Induced Demyelination.
- Published in:
- Genetics, 2003, v. 163, n. 3, p. 1041, doi. 10.1093/genetics/163.3.1041
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- Article
DMD mutation and LTBP4 haplotype do not predict onset of left ventricular dysfunction in Duchenne muscular dystrophy.
- Published in:
- 2018
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- Publication type:
- journal article
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
- Published in:
- Human Mutation, 2022, v. 43, n. 4, p. 511, doi. 10.1002/humu.24343
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- Publication type:
- Article
Novel approaches to analysis of the North Star Ambulatory Assessment (NSAA) in Duchenne muscular dystrophy (DMD): Observations from a phase 2 trial.
- Published in:
- PLoS ONE, 2022, v. 17, n. 8, p. 1, doi. 10.1371/journal.pone.0272858
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- Publication type:
- Article
High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 4, p. 1, doi. 10.1002/mgg3.1619
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- Publication type:
- Article
Medical management of muscle weakness in Duchenne muscular dystrophy.
- Published in:
- PLoS ONE, 2020, v. 15, n. 10, p. 1, doi. 10.1371/journal.pone.0240687
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- Article
Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study.
- Published in:
- 2019
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- Publication type:
- journal article
Dual-energy X-ray absorptiometry measures of lean body mass as a biomarker for progression in boys with Duchenne muscular dystrophy.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-23072-5
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- Publication type:
- Article
Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 687, doi. 10.3233/JND-230185
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- Publication type:
- Article
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG).
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 389, doi. 10.3233/JND-221560
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- Publication type:
- Article
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of the NURTURE study.
- Published in:
- Muscle & Nerve, 2023, v. 68, n. 2, p. 157, doi. 10.1002/mus.27853
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- Publication type:
- Article
Randomized phase 2 study of ACE‐083, a muscle‐promoting agent, in facioscapulohumeral muscular dystrophy.
- Published in:
- Muscle & Nerve, 2022, v. 66, n. 1, p. 50, doi. 10.1002/mus.27558
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- Publication type:
- Article
Evaluation of effects of continued corticosteroid treatment on cardiac and pulmonary function in non‐ambulatory males with Duchenne muscular dystrophy from MD STARnet.
- Published in:
- Muscle & Nerve, 2022, v. 66, n. 1, p. 15, doi. 10.1002/mus.27490
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- Publication type:
- Article
Association of genetic mutations and loss of ambulation in childhood‐onset dystrophinopathy.
- Published in:
- Muscle & Nerve, 2021, v. 63, n. 2, p. 181, doi. 10.1002/mus.27113
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- Publication type:
- Article
The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID-19 pandemic.
- Published in:
- 2020
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- Publication type:
- journal article
Spinal muscular atrophy care in the COVID-19 pandemic era.
- Published in:
- 2020
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- Publication type:
- journal article
Modified dynamic gait index and limits of stability in myotonic dystrophy type 1.
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- 2018
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- Publication type:
- journal article
Orofacial strength, dysarthria, and dysphagia in congenital myotonic dystrophy.
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- 2018
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- Publication type:
- journal article
Physical function and mobility in children with congenital myotonic dystrophy.
- Published in:
- 2017
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- Publication type:
- journal article
Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability.
- Published in:
- Human Mutation, 2015, v. 36, n. 1, p. 48, doi. 10.1002/humu.22691
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- Publication type:
- Article
Position of Glycine Substitutions in the Triple Helix of COL6 A1, COL6 A2, and COL6 A3 is Correlated with Severity and Mode of Inheritance in Collagen VI Myopathies.
- Published in:
- Human Mutation, 2013, v. 34, n. 11, p. 1558, doi. 10.1002/humu.22429
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- Publication type:
- Article
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy.
- Published in:
- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0061-8
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- Publication type:
- Article
Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 8, p. 4421, doi. 10.1007/s00415-022-11084-0
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- Publication type:
- Article
Characteristics of Clinical Trial Participants with Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).
- Published in:
- Children, 2021, v. 8, n. 10, p. 1, doi. 10.3390/children8100835
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- Publication type:
- Article
Development, Implementation, and Use of a Neurology Therapeutics Committee.
- Published in:
- Child Neurology Open, 2019, v. 6, n. 7, p. N.PAG, doi. 10.1177/2329048X19830473
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- Publication type:
- Article
Development, Implementation, and Use of a Neurology Therapeutics Committee.
- Published in:
- Child Neurology Open, 2019, v. 6, p. N.PAG, doi. 10.1177/2329048X19830473
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- Publication type:
- Article
Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy.
- Published in:
- PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189664
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- Publication type:
- Article
Myopathy in the York Platelet Syndrome: An Underrecognized Complication.
- Published in:
- Case Reports in Pathology, 2018, p. 1, doi. 10.1155/2018/5130143
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- Publication type:
- Article