Found: 52
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Analysis of Gait Disturbance in Glut 1 Deficiency Syndrome.
- Published in:
- Journal of Child Neurology, 2016, v. 31, n. 13, p. 1483, doi. 10.1177/0883073816661662
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- Publication type:
- Article
Long-Term Clinical Course of Glut1 Deficiency Syndrome.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 2, p. 160, doi. 10.1177/0883073814531822
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- Publication type:
- Article
Executive Functioning in the Dystrophinopathies and the Relation to Underlying Mutation Position.
- Published in:
- Journal of the International Neuropsychological Society, 2019, v. 25, n. 2, p. 146, doi. 10.1017/S1355617718000942
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- Publication type:
- Article
Executive Skills and Academic Achievement in the Dystrophinopathies.
- Published in:
- Journal of the International Neuropsychological Society, 2018, v. 24, n. 9, p. 928, doi. 10.1017/S1355617717001333
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- Publication type:
- Article
Perceived exertion is not a substitute for fatiguability in spinal muscular atrophy.
- Published in:
- Muscle & Nerve, 2023, v. 68, n. 1, p. 81, doi. 10.1002/mus.27765
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- Publication type:
- Article
Psychometric evaluation of modified spinal muscular atrophy functional rating scale (SMAFRS) in adult patients using Rasch analysis.
- Published in:
- Muscle & Nerve, 2023, v. 67, n. 3, p. 239, doi. 10.1002/mus.27785
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- Publication type:
- Article
Different trajectories in upper limb and gross motor function in spinal muscular atrophy.
- Published in:
- Muscle & Nerve, 2021, v. 64, n. 5, p. 552, doi. 10.1002/mus.27384
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- Publication type:
- Article
Limitations of 6-minute walk test reference values for spinal muscular atrophy.
- Published in:
- 2020
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- Publication type:
- journal article
Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy.
- Published in:
- 2019
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- Publication type:
- journal article
What system controls balance in children with charcot-marie-tooth disease?
- Published in:
- 2019
- By:
- Publication type:
- Editorial
Revised upper limb module for spinal muscular atrophy: 12 month changes.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Motor milestone assessment of infants with spinal muscular atrophy using the hammersmith infant neurological Exam-Part 2: Experience from a nusinersen clinical study.
- Published in:
- 2018
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- Publication type:
- journal article
Gait assessment with solesound instrumented footwear in spinal muscular atrophy.
- Published in:
- 2017
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- Publication type:
- journal article
Revised upper limb module for spinal muscular atrophy: Development of a new module.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Rasch analysis of the Pediatric Evaluation of Disability Inventory-computer adaptive test (PEDI-CAT) item bank for children and young adults with spinal muscular atrophy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Six-minute walk test is reliable and valid in spinal muscular atrophy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy.
- Published in:
- 2015
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- Publication type:
- journal article
Old measures and new scores in spinal muscular atrophy patients.
- Published in:
- Muscle & Nerve, 2015, v. 52, n. 3, p. 435, doi. 10.1002/mus.24748
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- Publication type:
- Article
Performance of the timed 'up & go' test in spinal muscular atrophy.
- Published in:
- Muscle & Nerve, 2014, v. 50, n. 2, p. 273, doi. 10.1002/mus.24153
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- Publication type:
- Article
Leg muscle function and fatigue during walking in spinal muscular atrophy type 3.
- Published in:
- Muscle & Nerve, 2014, v. 50, n. 1, p. 34, doi. 10.1002/mus.24081
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- Publication type:
- Article
Falls and spinal muscular atrophy: Exploring cause and prevention.
- Published in:
- Muscle & Nerve, 2013, v. 47, n. 1, p. 118, doi. 10.1002/mus.23656
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- Publication type:
- Article
Fatigue leads to gait changes in spinal muscular atrophy.
- Published in:
- Muscle & Nerve, 2011, v. 43, n. 4, p. 485, doi. 10.1002/mus.21917
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- 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
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- Publication type:
- Article
Low Bone Mass in Ambulatory Spinal Muscular Atrophy: A Proactive Approach for an Often-Overlooked Impairment.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 5, p. 1336, doi. 10.3390/jcm13051336
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- 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
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- Publication type:
- Article
Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 10, p. 3458, doi. 10.3390/jcm12103458
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- Publication type:
- Article
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 5, p. 1920, doi. 10.3390/jcm12051920
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- Publication type:
- Article
Quantitative gait assessment in children with 16p11.2 syndrome.
- Published in:
- Journal of Neurodevelopmental Disorders, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s11689-019-9286-9
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- Publication type:
- Article
Essential competencies for physical therapist managing individuals with spinal muscular atrophy: A delphi study.
- Published in:
- PLoS ONE, 2021, v. 16, n. 4, p. 1, doi. 10.1371/journal.pone.0249279
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- Publication type:
- Article
Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03067-3
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- Publication type:
- Article
A post pandemic roadmap toward remote assessment for neuromuscular disorders: limitations and opportunities.
- Published in:
- 2022
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- Publication type:
- journal article
Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
How is Physical Activity Measured in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy?
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 897, doi. 10.3233/JND-230033
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- Publication type:
- Article
DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 813, doi. 10.3233/JND-221667
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- Publication type:
- Article
Scientific rationale for a higher dose of nusinersen.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 6, p. 819, doi. 10.1002/acn3.51562
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- Publication type:
- Article
Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 11, p. 2199, doi. 10.1002/acn3.51464
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- Publication type:
- Article
Nusinersen in pediatric and adult patients with type III spinal muscular atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 8, p. 1622, doi. 10.1002/acn3.51411
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- Publication type:
- Article
Diminished muscle oxygen uptake and fatigue in spinal muscular atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 5, p. 1086, doi. 10.1002/acn3.51353
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- Publication type:
- Article
Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 5, p. 523, doi. 10.1111/cge.14487
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- Publication type:
- Article
Longitudinal natural history of type I spinal muscular atrophy: a critical review.
- Published in:
- 2020
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- Publication type:
- journal article
Clinical Variability in Spinal Muscular Atrophy Type III.
- Published in:
- Annals of Neurology, 2020, v. 88, n. 6, p. 1109, doi. 10.1002/ana.25900
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- Publication type:
- Article
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.
- Published in:
- European Journal of Neurology, 2024, v. 31, n. 8, p. 1, doi. 10.1111/ene.16309
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- Publication type:
- Article
Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool.
- Published in:
- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0172346
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- Publication type:
- Article
Weakness and Fatigue in Diverse Neuromuscular Diseases.
- Published in:
- Journal of Child Neurology, 2013, v. 28, n. 10, p. 1277, doi. 10.1177/0883073813493663
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- 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
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- Publication type:
- Article
Spinal Muscular Atrophy Type III: Trying to Understand Subtle Functional Change Over Time—A Case Report.
- Published in:
- 2012
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- Publication type:
- Case Study
Validation of the Expanded Hammersmith Functional Motor Scale in Spinal Muscular Atrophy Type II and III.
- Published in:
- Journal of Child Neurology, 2011, v. 26, n. 12, p. 1499, doi. 10.1177/0883073811420294
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- Publication type:
- Article
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
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- 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
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- Publication type:
- Article