Found: 22
Select item for more details and to access through your institution.
Measuring Disease Progression in Giant Axonal Neuropathy: Implications for Clinical Trial Design.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 6, p. 741, doi. 10.1177/0883073814542946
- By:
- Publication type:
- Article
Validation of a novel western blot assay to monitor patterns and levels of alpha dystroglycan in skeletal muscle of patients with limb girdle muscular dystrophies.
- Published in:
- Journal of Muscle Research & Cell Motility, 2024, v. 45, n. 3, p. 123, doi. 10.1007/s10974-024-09670-y
- By:
- Publication type:
- Article
Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike Episodes.
- Published in:
- Annals of the New York Academy of Sciences, 2008, v. 1142, p. 133, doi. 10.1196/annals.1444.011
- By:
- Publication type:
- Article
Health outcomes in spinal muscular atrophy type 1 following AVXS‐101 gene replacement therapy.
- Published in:
- Pediatric Pulmonology, 2019, v. 54, n. 2, p. 179, doi. 10.1002/ppul.24203
- 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
Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis.
- Published in:
- Muscle & Nerve, 2014, v. 50, n. 4, p. 467, doi. 10.1002/mus.24321
- By:
- Publication type:
- Article
REPLY.
- Published in:
- Muscle & Nerve, 2014, v. 50, p. 458, doi. 10.1002/mus.24317
- By:
- Publication type:
- Article
Reply.
- Published in:
- Muscle & Nerve, 2014, v. 50, n. 3, p. 458, doi. 10.1002/mus.24317
- By:
- Publication type:
- Article
The motor neuron response to SMN1 deficiency in spinal muscular atrophy.
- Published in:
- Muscle & Nerve, 2014, v. 49, n. 5, p. 636, doi. 10.1002/mus.23967
- By:
- Publication type:
- Article
An updated cost-utility model for onasemnogene abeparvovec (Zolgensma®) in spinal muscular atrophy type 1 patients and comparison with evaluation by the Institute for Clinical and Effectiveness Review (ICER).
- Published in:
- Journal of Market Access & Health Policy, 2021, v. 9, n. 1, p. 1, doi. 10.1080/20016689.2021.1889841
- By:
- Publication type:
- Article
Cost-effectiveness analysis of using onasemnogene abeparvocec (AVXS-101) in spinal muscular atrophy type 1 patients.
- Published in:
- Journal of Market Access & Health Policy, 2019, v. 7, n. 1, p. 1, doi. 10.1080/20016689.2019.1601484
- By:
- Publication type:
- Article
Therapeutic developments in spinal muscular atrophy.
- Published in:
- Therapeutic Advances in Neurological Disorders, 2010, v. 3, n. 3, p. 173, doi. 10.1177/1756285610369026
- By:
- Publication type:
- Article
Diabetic Ketoacidosis in an Adult Patient With Spinal Muscular Atrophy Type II: Further Evidence of Extraneural Pathology Due to Survival Motor Neuron 1 Mutation?
- Published in:
- 2013
- By:
- Publication type:
- Case Study
Weakness and Fatigue in Diverse Neuromuscular Diseases.
- Published in:
- Journal of Child Neurology, 2013, v. 28, n. 10, p. 1277, doi. 10.1177/0883073813493663
- By:
- Publication type:
- Article
Independent Mobility After Early Introduction of a Power Wheelchair in Spinal Muscular Atrophy.
- Published in:
- Journal of Child Neurology, 2013, v. 28, n. 5, p. 576, doi. 10.1177/0883073812449383
- By:
- Publication type:
- Article
Age at Disease Onset Predicts Likelihood and Rapidity of Growth Failure Among Infants and Young Children With Spinal Muscular Atrophy Types 1 and 2.
- Published in:
- Journal of Child Neurology, 2012, v. 27, n. 7, p. 845, doi. 10.1177/0883073811415680
- By:
- Publication type:
- Article
Spinal Muscular Atrophy Type III: Trying to Understand Subtle Functional Change Over Time—A Case Report.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Thigh Muscle Volume Measured by Magnetic Resonance Imaging Is Stable Over a 6-Month Interval in Spinal Muscular Atrophy.
- Published in:
- Journal of Child Neurology, 2011, v. 26, n. 10, p. 1252, doi. 10.1177/0883073811405053
- By:
- Publication type:
- Article
Muscle Volume Estimation by Magnetic Resonance Imaging in Spinal Muscular Atrophy.
- Published in:
- Journal of Child Neurology, 2011, v. 26, n. 3, p. 309, doi. 10.1177/0883073810380457
- By:
- Publication type:
- Article
Bioelectrical Impedance Analysis Can Be a Useful Screen for Excess Adiposity in Spinal Muscular Atrophy.
- Published in:
- Journal of Child Neurology, 2010, v. 25, n. 11, p. 1348, doi. 10.1177/0883073810365185
- By:
- Publication type:
- Article
Response to: Alfred Sandrock, Wildon Farwell. Letter to the Editor, Comparisons Between Separately Conducted Clinical Trials: Letter to the Editor Regarding Dabbous O, Maru B, Jansen JP, Lorenzi M, Cloutier M, Guérin A, et al. Adv Ther (2019) 36(5):1164-76. doi:10.1007/s12325-019-00923-8.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Survival, Motor Function, and Motor Milestones: Comparison of AVXS-101 Relative to Nusinersen for the Treatment of Infants with Spinal Muscular Atrophy Type 1.
- Published in:
- 2019
- By:
- Publication type:
- journal article