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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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- Article
Findings from the Longitudinal CINRG Becker Natural History Study.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 201, doi. 10.3233/JND-230178
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- Article
Moving Beyond the 2018 Minimum International Care Considerations for Osteoporosis Management in Duchenne Muscular Dystrophy (DMD): Meeting Report from the 3rd International Muscle-Bone Interactions Meeting 7th and 14th November 2022.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 233, doi. 10.3233/JND-230176
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- Article
Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 129, doi. 10.3233/JND-230082
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- Publication type:
- Article
Pamrevlumab, a Fully Human Monoclonal Antibody Targeting Connective Tissue Growth Factor, for Non-Ambulatory Patients with Duchenne Muscular Dystrophy.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 685, doi. 10.3233/JND-230019
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- Article
Efficacy and Safety of Viltolarsen in Boys With Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 439, doi. 10.3233/JND-221656
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- Article
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG).
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 389, doi. 10.3233/JND-221560
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- Publication type:
- Article
Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 493, doi. 10.3233/JND-220811
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- Publication type:
- Article
A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 39, doi. 10.3233/JND-210665
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- Publication type:
- Article
Open-Label Evaluation of Eteplirsen in Patients with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping: PROMOVI Trial.
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- Journal of Neuromuscular Diseases, 2021, v. 8, n. 6, p. 989, doi. 10.3233/JND-210643
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- Publication type:
- Article
A Randomized, Double-Blind Trial of Lisinopril and Losartan for the Treatment of Cardiomyopathy in Duchenne Muscular Dystrophy.
- Published in:
- PLoS Currents, 2013, p. 72, doi. 10.1371/currents.md.2cc69a1dae4be7dfe2bcb420024ea865
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- Article
Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy.
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- World Journal of Pediatrics, 2019, v. 15, n. 3, p. 219, doi. 10.1007/s12519-019-00242-6
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- Article
Rapamycin nanoparticles target defective autophagy in muscular dystrophy to enhance both strength and cardiac function.
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- FASEB Journal, 2014, v. 28, n. 5, p. 2047, doi. 10.1096/fj.13-237388
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- Article
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.
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- Human Molecular Genetics, 2010, v. 19, n. 7, p. 1165, doi. 10.1093/hmg/ddp587
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- Article
Natural history of infantile-onset spinal muscular atrophy.
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- 2017
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- Publication type:
- journal article
Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy.
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- 2016
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- Publication type:
- journal article
PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E.
- Published in:
- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 4, p. 236, doi. 10.1002/acn3.395
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- Publication type:
- Article
Baseline results of the Neuro NEXT spinal muscular atrophy infant biomarker study.
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- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 2, p. 132, doi. 10.1002/acn3.283
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- Article
Primary α-sarcoglycan deficiency responsive to immunosuppression over three years.
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- Muscle & Nerve, 1998, v. 21, n. 11, p. 1549, doi. 10.1002/(SICI)1097-4598(199811)21:11<1549::AID-MUS30>3.0.CO;2-T
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- Article
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.
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- Nature Genetics, 2009, v. 41, n. 7, p. 849, doi. 10.1038/ng.399
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- Publication type:
- Article
Binge eating tendencies and anger coping: investigating the confound of trait neuroticism in a non-clinical sample.
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- European Eating Disorders Review, 2007, v. 15, n. 6, p. 479, doi. 10.1002/erv.765
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- Article
Medical management of muscle weakness in Duchenne muscular dystrophy.
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- PLoS ONE, 2020, v. 15, n. 10, p. 1, doi. 10.1371/journal.pone.0240687
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- Article
Pulmonary Endpoints in Duchenne Muscular Dystrophy. A Workshop Summary.
- Published in:
- 2017
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- Publication type:
- journal article
The Neuropsychological and Language Profile of Children with Benign Rolandic Epilepsy.
- Published in:
- Epilepsia (Series 4), 2005, v. 46, n. 6, p. 924, doi. 10.1111/j.1528-1167.2005.62304.x
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- Publication type:
- Article
Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A Phase 2 Randomized Clinical Trial.
- Published in:
- JAMA Neurology, 2020, v. 77, n. 8, p. 982, doi. 10.1001/jamaneurol.2020.1264
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- Article
Teaching doctors how to diagnose paroxysmal events: a comparison of two educational methods.
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- Medical Education, 2008, v. 42, n. 9, p. 909, doi. 10.1111/j.1365-2923.2008.03146.x
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- Article
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45933-5
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- Article
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
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- Human Mutation, 2009, v. 30, n. 12, p. 1657, doi. 10.1002/humu.21114
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- Article
Treatment for Spinal Muscular Atrophy Using Onasemnogene Abeparvovec.
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- touchREVIEWS in Neurology, 2022, v. 18, n. 2, p. 133, doi. 10.17925/USN.2022.18.2.133
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- Article
Tracking diaphragm movement by using ultrasound to assess its strength.
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- Journal of Physiology, 2016, v. 594, n. 24, p. 7147, doi. 10.1113/JP273313
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- Article
Evaluation of an E-learning resource on approach to the first unprovoked seizure.
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- 2016
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- Publication type:
- journal article
Exploring carer perceptions of training in out-of-hospital use of buccal midazolam for emergency management of seizures (2008-2012).
- Published in:
- Journal of Paediatrics & Child Health, 2015, v. 51, n. 7, p. 704, doi. 10.1111/jpc.12811
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- Article
'Beyond Milestones': A randomised controlled trial evaluating an innovative digital resource teaching quality observation of normal child development.
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- 2014
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- Publication type:
- Journal Article
' Beyond Milestones': A randomised controlled trial evaluating an innovative digital resource teaching quality observation of normal child development.
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- Journal of Paediatrics & Child Health, 2014, v. 50, n. 5, p. 393, doi. 10.1111/jpc.12485
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- Publication type:
- Article
Personalised epilepsy education intervention for adolescents and impact on knowledge acquisition and psychosocial function.
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- Journal of Paediatrics & Child Health, 2011, v. 47, n. 5, p. 271, doi. 10.1111/j.1440-1754.2010.01952.x
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- Publication type:
- Article
Teaching paediatric epilepsy to medical students: A randomised crossover trial.
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- Journal of Paediatrics & Child Health, 2009, v. 45, n. 12, p. 727, doi. 10.1111/j.1440-1754.2009.01602.x
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- Publication type:
- 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 Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin ( MYH7) Distal Myopathy.
- Published in:
- Human Mutation, 2014, v. 35, n. 7, p. 868, doi. 10.1002/humu.22553
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- Article
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
- Published in:
- Human Mutation, 2011, v. 32, n. 3, p. 299, doi. 10.1002/humu.21426
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- Publication type:
- Article
Multi-Omics Identifies Circulating miRNA and Protein Biomarkers for Facioscapulohumeral Dystrophy.
- Published in:
- Journal of Personalized Medicine, 2020, v. 10, n. 4, p. 236, doi. 10.3390/jpm10040236
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- Article
The impact of genotype on outcomes in individuals with Duchenne muscular dystrophy: A systematic review.
- Published in:
- 2022
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- Publication type:
- journal article
Time is muscle: A recommendation for early treatment for preterm infants with spinal muscular atrophy.
- Published in:
- Muscle & Nerve, 2021, v. 64, n. 2, p. 153, doi. 10.1002/mus.27261
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- Article
Laboratory monitoring of nusinersen safety.
- Published in:
- 2021
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- Publication type:
- journal article
Pulse oral corticosteroids in pediatric chronic inflammatory demyelinating polyneuropathy.
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- Muscle & Nerve, 2020, v. 62, n. 6, p. 705, doi. 10.1002/mus.27058
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- Publication type:
- Article
Spinal muscular atrophy care in the COVID-19 pandemic era.
- Published in:
- 2020
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- Publication type:
- journal 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
Twice‐weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy.
- Published in:
- Muscle & Nerve, 2019, v. 59, n. 6, p. 650, doi. 10.1002/mus.26441
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- Publication type:
- Article
Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy.
- Published in:
- 2019
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- Publication type:
- journal article
Clinical trial readiness in non-ambulatory boys and men with duchenne muscular dystrophy: MDA-DMD network follow-up.
- Published in:
- 2016
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- Publication type:
- journal article
Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal.
- Published in:
- 2016
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- Publication type:
- journal article