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Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome.
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- Journal of Child Neurology, 2017, v. 32, n. 8, p. 694, doi. 10.1177/0883073817701622
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- Article
A Novel Mutation p.A59P in N-Terminal Domain of Methyl-CpG–Binding Protein 2 Confers Phenotypic Variability in 3 Cases of Tunisian Rett Patients.
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- Journal of Child Neurology, 2015, v. 30, n. 13, p. 1715, doi. 10.1177/0883073815578529
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- Article
A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity.
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- Journal of Molecular Neuroscience, 2023, v. 73, n. 9/10, p. 853, doi. 10.1007/s12031-023-02163-6
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Combined in Silico Prediction Methods, Molecular Dynamic Simulation, and Molecular Docking of FOXG1 Missense Mutations: Effect on FoxG1 Structure and Its Interactions with DNA and Bmi-1 Protein.
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- Journal of Molecular Neuroscience, 2022, v. 72, n. 8, p. 1695, doi. 10.1007/s12031-022-02032-8
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- Article
Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity.
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- Metabolic Brain Disease, 2024, v. 39, n. 4, p. 611, doi. 10.1007/s11011-024-01343-6
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- Article
A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation.
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- Acta Neurologica Belgica, 2021, v. 121, n. 6, p. 1733, doi. 10.1007/s13760-020-01490-4
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Phenotypic variability in two infants sharing the same MECP2 mutation: evidence of chromosomal rearrangements and high sister-chromatid exchange levels in Rett syndrome.
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- Acta Neurologica Belgica, 2017, v. 117, n. 1, p. 251, doi. 10.1007/s13760-016-0667-5
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- Article
Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation.
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- Neurogenetics, 2022, v. 23, n. 4, p. 257, doi. 10.1007/s10048-022-00696-3
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A novel thymidine phosphorylase mutation in a family with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Molecular docking, dynamic simulation and computational investigations.
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- International Journal of Developmental Neuroscience, 2022, v. 82, n. 7, p. 626, doi. 10.1002/jdn.10215
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- Article
First description of an unusual novel double mutation in MECP2 co-occurring with the m.827A>G mutation in the MT-RNR1 gene associated with angelman-like syndrome.
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- International Journal of Developmental Neuroscience, 2019, v. 79, p. 37, doi. 10.1016/j.ijdevneu.2019.10.002
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- Article