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Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency.
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- Oxidative Medicine & Cellular Longevity, 2020, p. 1, doi. 10.1155/2020/6821247
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- Article
A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 18, p. 9913, doi. 10.3390/ijms22189913
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- Article
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 10, p. 3603, doi. 10.3390/ijms21103603
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- Article
Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.
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- Cerebellum, 2018, v. 17, n. 4, p. 489, doi. 10.1007/s12311-018-0920-y
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- Article
Expanding the Clinical and Mutational Spectrum of the PLP1 -Related Hypomyelination of Early Myelinated Structures (HEMS).
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- Brain Sciences (2076-3425), 2021, v. 11, n. 1, p. 93, doi. 10.3390/brainsci11010093
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- Article
Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.
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- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01026
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- Article
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.
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- Clinical Genetics, 2020, v. 97, n. 3, p. 521, doi. 10.1111/cge.13668
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- Article
Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants.
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- Journal of Neurology, 2019, v. 266, n. 11, p. 2657, doi. 10.1007/s00415-019-09466-y
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- Article
Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome.
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- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01359-7
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- Article
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
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- Neurogenetics, 2018, v. 19, n. 2, p. 111, doi. 10.1007/s10048-018-0545-9
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- Article