Found: 33
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Ultrasound assessment of diaphragmatic function in type 1 spinal muscular atrophy.
- Published in:
- Pediatric Pulmonology, 2020, v. 55, n. 7, p. 1781, doi. 10.1002/ppul.24814
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- Publication type:
- Article
Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study.
- Published in:
- European Journal of Pediatrics, 2024, v. 183, n. 11, p. 4735, doi. 10.1007/s00431-024-05735-9
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- Publication type:
- Article
Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?
- Published in:
- European Journal of Pediatrics, 2024, v. 183, n. 7, p. 2995, doi. 10.1007/s00431-024-05546-y
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- Publication type:
- Article
Assessing floppy infants: a new module.
- Published in:
- European Journal of Pediatrics, 2022, v. 181, n. 7, p. 2771, doi. 10.1007/s00431-022-04476-x
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- Publication type:
- Article
Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening.
- Published in:
- European Journal of Pediatrics, 2022, v. 181, n. 7, p. 2821, doi. 10.1007/s00431-022-04470-3
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- Publication type:
- Article
Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes.
- Published in:
- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0144079
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- Publication type:
- Article
Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0108205
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- Publication type:
- Article
6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0083400
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- Publication type:
- Article
24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0052512
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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
Revised upper limb module for spinal muscular atrophy: 12 month changes.
- Published in:
- 2019
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- Publication type:
- journal article
Revised upper limb module for spinal muscular atrophy: Development of a new module.
- Published in:
- 2017
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- Publication type:
- journal article
Needleless inhaled anesthesia with sevoflurane: Advantages of a simplified approach for children with spinal muscular atrophy undergoing intrathecal administration of nusinersen.
- Published in:
- Pediatric Anesthesia, 2023, v. 33, n. 4, p. 282, doi. 10.1111/pan.14630
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- Publication type:
- Article
De Novo Partial 13q22-q34 Trisomy with Typical Neurological and Immunological Findings: A Case Report with New Genetic Insights.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 1, p. 21, doi. 10.3390/brainsci11010021
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- Publication type:
- Article
The 6 Minute Walk Test and Performance of Upper Limb in Ambulant Duchenne Muscular Dystrophy Boys.
- Published in:
- PLoS Currents, 2014, p. 497, doi. 10.1371/currents.md.a93d9904d57dcb08936f2ea89bca6fe6
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- Publication type:
- Article
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?
- Published in:
- PLoS ONE, 2020, v. 15, n. 3, p. 1, doi. 10.1371/journal.pone.0230677
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- Publication type:
- Article
Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.
- Published in:
- 2017
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- Publication type:
- journal article
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 85, doi. 10.3233/JND-221644
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- Publication type:
- Article
Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 567, doi. 10.3233/JND-221556
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- Publication type:
- Article
Oral and Swallowing Abilities Tool (OrSAT) for Type 1 SMA Patients: Development of a New Module.
- Published in:
- Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 589, doi. 10.3233/JND-200614
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- Publication type:
- Article
Nusinersen efficacy data for 24‐month in type 2 and 3 spinal muscular atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 3, p. 404, doi. 10.1002/acn3.51514
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- Publication type:
- Article
Reply to: The need for evidence‐based treatment decisions in spinal muscular atrophy type 0.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 10, p. 2093, doi. 10.1002/acn3.51458
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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
Type I SMA "new natural history": long‐term data in nusinersen‐treated patients.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 3, p. 548, doi. 10.1002/acn3.51276
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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
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data.
- Published in:
- 2019
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- Publication type:
- journal article
Type I spinal muscular atrophy patients treated with nusinersen: 4‐year follow‐up of motor, respiratory and bulbar function.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 6, p. 1755, doi. 10.1111/ene.15768
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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
Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy.
- Published in:
- PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0160195
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- Publication type:
- Article
Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study.
- Published in:
- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0151445
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- Publication type:
- Article
Ambulatory function in spinal muscular atrophy: Age-related patterns of progression.
- Published in:
- PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199657
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- Publication type:
- Article
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data.
- Published in:
- PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199223
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- Publication type:
- Article