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Erratum to: Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 937, doi. 10.3233/JND-230054
- By:
- Publication type:
- Article
Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 531, doi. 10.3233/JND-221531
- By:
- 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
- By:
- Publication type:
- Article
Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 2, p. 199, doi. 10.3233/JND-221573
- By:
- Publication type:
- Article
Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 41, doi. 10.3233/JND-210764
- By:
- Publication type:
- Article
Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1419791
- By:
- Publication type:
- Article
Response to "The Spectrum of Neuromuscular Disorders Admitted to a Pediatric Intensive Care Unit Is Broader Than Anticipated".
- Published in:
- 2020
- By:
- Publication type:
- Letter
Acute Neuromuscular Disorders in the Pediatric Intensive Care Unit.
- Published in:
- Journal of Child Neurology, 2020, v. 35, n. 1, p. 17, doi. 10.1177/0883073819871437
- By:
- Publication type:
- Article
Spectrum of Neuromuscular Disorders With HyperCKemia From a Tertiary Care Pediatric Neuromuscular Center.
- Published in:
- Journal of Child Neurology, 2018, v. 33, n. 6, p. 389, doi. 10.1177/0883073818758455
- By:
- Publication type:
- Article
Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the Future.
- Published in:
- American Journal of Speech-Language Pathology, 2021, v. 30, p. 1008, doi. 10.1044/2021_AJSLP-20-00217
- By:
- Publication type:
- Article
Quantitative Ultrasound Assessment of Duchenne Muscular Dystrophy Using Edge Detection Analysis.
- Published in:
- Journal of Ultrasound in Medicine, 2016, v. 35, n. 9, p. 1889, doi. 10.7863/ultra.15.04065
- By:
- Publication type:
- Article
Globoid Cell Leukodystrophy: Cranial Computed Tomography and Evoked Potentials.
- Published in:
- Journal of Child Neurology, 1986, v. 1, n. 2, p. 126, doi. 10.1177/088307388600100206
- By:
- Publication type:
- Article
Reply to: The 4‐Copy Conundrum in the Treatment of Infants with Spinal Muscular Atrophy.
- Published in:
- Annals of Neurology, 2022, v. 91, n. 6, p. 892, doi. 10.1002/ana.26357
- By:
- Publication type:
- Article
Ethical Perspectives on Treatment Options with Spinal Muscular Atrophy Patients.
- Published in:
- Annals of Neurology, 2022, v. 91, n. 3, p. 305, doi. 10.1002/ana.26299
- By:
- Publication type:
- Article
Yeo and Darras: Extraneuronal Phenotypes of Spinal Muscular Atrophy.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 1, p. 24, doi. 10.1002/ana.25930
- By:
- Publication type:
- Article
Natural history of infantile-onset spinal muscular atrophy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
NeuroNEXT is at your service.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Quantitative muscle ultrasound detects disease progression in Duchenne muscular dystrophy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Electrical impedance myography for assessment of Duchenne muscular dystrophy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Electrical impedance myography for reducing sample size in Duchenne muscular dystrophy trials.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 4, doi. 10.1002/acn3.50958
- By:
- Publication type:
- Article
Neurofilament as a potential biomarker for spinal muscular atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 5, p. 932, doi. 10.1002/acn3.779
- By:
- Publication type:
- Article
Baseline results of the Neuro NEXT spinal muscular atrophy infant biomarker study.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 2, p. 132, doi. 10.1002/acn3.283
- By:
- Publication type:
- Article
The Longitudinal Course of Cardiomyopathy in Friedreich’s Ataxia During Childhood.
- Published in:
- Pediatric Cardiology, 2009, v. 30, n. 3, p. 306, doi. 10.1007/s00246-008-9305-1
- By:
- Publication type:
- Article
A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male.
- Published in:
- Nature, 1987, v. 329, n. 6139, p. 556, doi. 10.1038/329556a0
- By:
- Publication type:
- Article
Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 8, p. 1302, doi. 10.1002/acn3.51612
- By:
- Publication type:
- Article
SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy.
- Published in:
- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0060113
- By:
- Publication type:
- Article
Real-world analysis of healthcare resource utilization by patients with X-linked myotubular myopathy (XLMTM) in the United States.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02733-2
- By:
- Publication type:
- Article
Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2021, v. 7, n. 2, p. 1, doi. 10.3390/ijns7020026
- By:
- 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
- By:
- Publication type:
- Article
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
- Published in:
- JAMA Neurology, 2022, v. 79, n. 4, p. 405, doi. 10.1001/jamaneurol.2022.0067
- By:
- Publication type:
- Article
LGMD2I in a North American population.
- Published in:
- BMC Musculoskeletal Disorders, 2007, v. 8, p. 115, doi. 10.1186/1471-2474-8-115
- By:
- Publication type:
- Article
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.
- Published in:
- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-68
- By:
- Publication type:
- Article
Identification of a novel truncating mutation (S171X) in the Emerin gene in five members of a caucasian American family with Emery-Dreifuss muscular dystrophy.
- Published in:
- Human Mutation, 2000, v. 16, n. 1, p. 94, doi. 10.1002/1098-1004(200007)16:1<94::AID-HUMU27>3.0.CO;2-N
- By:
- Publication type:
- Article
Systemic nature of spinal muscular atrophy revealed by studying insurance claims.
- Published in:
- PLoS ONE, 2019, v. 14, n. 3, p. 1, doi. 10.1371/journal.pone.0213680
- By:
- Publication type:
- Article
Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 762, doi. 10.1002/humu.24206
- By:
- Publication type:
- Article
Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 9, p. 2634, doi. 10.3390/jcm13092634
- By:
- Publication type:
- Article
Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function †.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 15, p. 4901, doi. 10.3390/jcm12154901
- By:
- Publication type:
- Article
An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Longitudinal natural history of type I spinal muscular atrophy: a critical review.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Survival among patients receiving eteplirsen for up to 8 years for the treatment of Duchenne muscular dystrophy and contextualization with natural history controls.
- Published in:
- Muscle & Nerve, 2024, v. 70, n. 1, p. 60, doi. 10.1002/mus.28075
- By:
- Publication type:
- Article
Translating fatigability in spinal muscular atrophy to clinical trials and management.
- Published in:
- Muscle & Nerve, 2023, v. 68, n. 1, p. 6, doi. 10.1002/mus.27831
- By:
- Publication type:
- Article
Distribution of weight, stature, and growth status in children and adolescents with spinal muscular atrophy: An observational retrospective study in the United States.
- Published in:
- Muscle & Nerve, 2022, v. 66, n. 1, p. 84, doi. 10.1002/mus.27556
- By:
- Publication type:
- Article
Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta-analysis of disease progression rates in recent multicenter clinical trials.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Deflazacort versus prednisone/prednisolone for maintaining motor function and delaying loss of ambulation: A post HOC analysis from the ACT DMD trial.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Muscle compression improves reliability of ultrasound echo intensity.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Electrophysiologic features of fibular neuropathy in childhood and adolescence.
- Published in:
- 2017
- By:
- 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
- By:
- Publication type:
- journal article