Found: 27
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Development of a functional outcome measure for riboflavin transporter deficiency.
- Published in:
- Journal of the Peripheral Nervous System, 2024, v. 29, n. 2, p. 185, doi. 10.1111/jns.12619
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- Publication type:
- Article
Benefit of high‐dose oral riboflavin therapy in riboflavin transporter deficiency.
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- Journal of the Peripheral Nervous System, 2023, v. 28, n. 3, p. 308, doi. 10.1111/jns.12587
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- Publication type:
- Article
Functional outcome measures for infantile Charcot‐Marie‐Tooth disease: a systematic review.
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- Journal of the Peripheral Nervous System, 2018, v. 23, n. 2, p. 99, doi. 10.1111/jns.12258
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- Publication type:
- Article
Established and novel measures of upper limb impairment in children with Charcot<bold>‐</bold>Marie<bold>‐</bold>tooth disease type 1A and riboflavin transporter deficiency type 2.
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- Journal of the Peripheral Nervous System, 2018, v. 23, n. 1, p. 29, doi. 10.1111/jns.12245
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- Publication type:
- Article
Systematic review of exercise for Charcot-Marie-Tooth disease.
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- Journal of the Peripheral Nervous System, 2015, v. 20, n. 4, p. 347, doi. 10.1111/jns.12116
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- Publication type:
- Article
Feasibility of designing, manufacturing and delivering 3D printed ankle-foot orthoses: a systematic review.
- Published in:
- Journal of Foot & Ankle Research, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13047-019-0321-6
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- Publication type:
- Article
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 26, p. 5484, doi. 10.1093/hmg/dds393
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- Publication type:
- Article
Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.
- Published in:
- 2019
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- Publication type:
- journal article
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.
- Published in:
- 2018
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- Publication type:
- journal article
Natural history of Charcot-Marie-Tooth disease during childhood.
- Published in:
- 2017
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- Publication type:
- journal article
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 9, p. 1713, doi. 10.1002/acn3.51145
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- Publication type:
- Article
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.
- Published in:
- Nature Genetics, 2012, v. 44, n. 6, p. 704, doi. 10.1038/ng.2254
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- Publication type:
- Article
CSF neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in FIRES and other infection‐triggered encephalopathy syndromes.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 8, p. 1417, doi. 10.1002/acn3.51832
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- Publication type:
- Article
Reliability and sensitivity of radiographic measures of hip dysplasia in childhood Charcot-Marie-Tooth disease.
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- Hip International, 2023, v. 33, n. 2, p. 323, doi. 10.1177/11207000211027591
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- Publication type:
- Article
Steroid‐responsive aseptic meningitis with raised intracranial pressure syndrome associated with myelin oligodendrocyte glycoprotein autoantibodies.
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- Journal of Paediatrics & Child Health, 2022, v. 58, n. 12, p. 2322, doi. 10.1111/jpc.16189
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- Publication type:
- Article
Inherited neuromuscular disorders: Pathway to diagnosis.
- Published in:
- Journal of Paediatrics & Child Health, 2012, v. 48, n. 6, p. 458, doi. 10.1111/j.1440-1754.2011.02210.x
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- Publication type:
- Article
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 1, p. 44, doi. 10.1093/brain/awt315
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- Publication type:
- Article
Advances in the management of Charcot-Marie-Tooth disease in childhood.
- Published in:
- 2022
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- Publication type:
- editorial
Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.
- Published in:
- 2016
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- Publication type:
- journal article
Eye movement disorders are an early manifestation of CACNA1A mutations in children.
- Published in:
- 2016
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- Publication type:
- journal article
Peripheral neuropathy associated with mitochondrial disease in children.
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- Developmental Medicine & Child Neurology, 2012, v. 54, n. 5, p. 407, doi. 10.1111/j.1469-8749.2012.04271.x
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- Publication type:
- Article
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.
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- Human Molecular Genetics, 2023, v. 32, n. 12, p. 2084, doi. 10.1093/hmg/ddad035
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- Publication type:
- Article
Exploring caregivers' attitudes and beliefs about nutrition and weight management for young people with Duchenne muscular dystrophy.
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- Muscle & Nerve, 2024, v. 69, n. 4, p. 448, doi. 10.1002/mus.28062
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- Publication type:
- Article
Balance impairment in pediatric charcot-marie-tooth disease.
- Published in:
- 2019
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- Publication type:
- journal article
Magnetic resonance imaging of the anterior compartment of the lower leg is a biomarker for weakness, disability, and impaired gait in childhood Charcot-Marie-Tooth disease.
- Published in:
- 2019
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- Publication type:
- journal article
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 7, p. 1, doi. 10.1371/journal.pgen.1006177
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- Publication type:
- Article
Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease.
- Published in:
- JAMA Neurology, 2016, v. 73, n. 6, p. 645, doi. 10.1001/jamaneurol.2016.0171
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- Publication type:
- Article