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Development and Pilot Validation of the DuMAND Checklist to Screen for Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties (DuMAND).
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 801, doi. 10.3233/JND-240012
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- Article
Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties: Insights from Clinical Practice.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 791, doi. 10.3233/JND-230251
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- Article
The Dilemma of Choice for Duchenne Patients Eligible for Exon 51 Skipping The European Experience.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 3, p. 315, doi. 10.3233/JND-221648
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- Article
Dystrophin deficiency leads to dysfunctional glutamate clearance in iPSC derived astrocytes.
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- Translational Psychiatry, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41398-019-0535-1
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- Article
Renal progression factors in young patients with tuberous sclerosis complex: a retrospective cohort study.
- Published in:
- Pediatric Nephrology, 2018, v. 33, n. 11, p. 2085, doi. 10.1007/s00467-018-4003-6
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- Article
Tuberous sclerosis complex: the past and the future.
- Published in:
- Pediatric Nephrology, 2015, v. 30, n. 10, p. 1771, doi. 10.1007/s00467-014-3027-9
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- Article
Undiagnosed Genetic Muscle Disease in the North of England: an in Depth Phenotype Analysis.
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- PLoS Currents, 2013, p. 986, doi. 10.1371/currents.md.37f840ca67f5e722945ecf755f40487e
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- Publication type:
- Article
Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study.
- Published in:
- PLoS ONE, 2018, v. 13, n. 7, p. 1, doi. 10.1371/journal.pone.0201004
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- Article
Longitudinal Alterations in Gait Features in Growing Children With Duchenne Muscular Dystrophy.
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- Frontiers in Human Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnhum.2022.861136
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- Article
First line management of prolonged convulsive seizures in children and adults: good practice points.
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- Acta Neurologica Belgica, 2013, v. 113, n. 4, p. 375, doi. 10.1007/s13760-013-0247-x
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- Article
EFFECTS: an expanded access program of everolimus for patients with subependymal giant cell astrocytoma associated with tuberous sclerosis complex.
- Published in:
- 2016
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- Publication type:
- journal article
Instrumented strength assessment in typically developing children and children with a neural or neuromuscular disorder: A reliability, validity and responsiveness study.
- Published in:
- Frontiers in Physiology, 2022, v. 13, p. 01, doi. 10.3389/fphys.2022.855222
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- Article
Activin A Modulates CRIPTO-1/HNF4α<sup>+</sup> Cells to Guide Cardiac Differentiation from Human Embryonic Stem Cells.
- Published in:
- Stem Cells International, 2017, p. 1, doi. 10.1155/2017/4651238
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- Publication type:
- Article
Increased Understanding of Stem Cell Behavior in Neurodegenerative and Neuromuscular Disorders by Use of Noninvasive Cell Imaging.
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- Stem Cells International, 2016, p. 1, doi. 10.1155/2016/6235687
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- Publication type:
- Article
Natural history of Type 2 and 3 spinal muscular atrophy: 2‐year NatHis‐SMA study.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 2, p. 359, doi. 10.1002/acn3.51281
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- Publication type:
- Article
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
- Published in:
- Nature Genetics, 2014, v. 46, n. 5, p. 503, doi. 10.1038/ng.2933
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- Article
Respiratory morbidity in patients with spinal muscular atrophy--a changing world in the light of disease-modifying therapies.
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- Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1366943
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- Article
Comparison of two corticosteroid regimens on brain volumetrics in patients with Duchenne muscular dystrophy.
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- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 12, p. 2324, doi. 10.1002/acn3.51922
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- Publication type:
- Article
The research landscape of tuberous sclerosis complex–associated neuropsychiatric disorders (TAND)—a comprehensive scoping review.
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- Journal of Neurodevelopmental Disorders, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s11689-022-09423-3
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- Article
Neuroimaging Biomarkers and Neurocognitive Outcomes in Pediatric Medulloblastoma Patients: a Systematic Review.
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- Cerebellum, 2021, v. 20, n. 3, p. 462, doi. 10.1007/s12311-020-01225-4
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- Article
Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
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- JAMA Neurology, 2022, v. 79, n. 10, p. 1005, doi. 10.1001/jamaneurol.2022.2480
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- Article
Lessons Learned from Discontinued Clinical Developments in Duchenne Muscular Dystrophy.
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- Frontiers in Pharmacology, 2021, v. 12, p. 1, doi. 10.3389/fphar.2021.735912
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- Publication type:
- Article
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal.
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- Human Mutation, 2023, p. 1, doi. 10.1155/2023/4899372
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- Article
Patients' Perceptions of Nusinersen Effects According to Their Responder Status.
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- Journal of Clinical Medicine, 2024, v. 13, n. 12, p. 3418, doi. 10.3390/jcm13123418
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- Article
Gait classification for growing children with Duchenne muscular dystrophy.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-61231-y
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- Publication type:
- Article
Lessons for future clinical trials in adults with Becker muscular dystrophy: Disease progression detected by muscle magnetic resonance imaging, clinical and patient‐reported outcome measures.
- Published in:
- European Journal of Neurology, 2024, v. 31, n. 7, p. 1, doi. 10.1111/ene.16282
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- Publication type:
- Article
Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo‐controlled, dose‐finding trial followed by 24 months of treatment.
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- European Journal of Neurology, 2023, v. 30, n. 7, p. 1945, doi. 10.1111/ene.15499
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- Publication type:
- Article
Multivariate data analysis identifies natural clusters of Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND).
- Published in:
- 2021
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- Publication type:
- journal article