Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 9
Results: 13
Nuclear modifier YARS2 allele correction restored retinal ganglion cells-specific deficiencies in Leber's hereditary optic neuropathy.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1539, doi. 10.1093/hmg/ddad001
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- Article
Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions.
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- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1497, doi. 10.1093/hmg/ddac311
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- Article
Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome.
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- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1552, doi. 10.1093/hmg/ddac309
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- Article
Methylenetetrahydrofolate reductase deficiency and high-dose FA supplementation disrupt embryonic development of energy balance and metabolic homeostasis in zebrafish.
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- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1575, doi. 10.1093/hmg/ddac308
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- Article
Direct evaluation of neuroaxonal degeneration with the causative genes of neurodegenerative diseases in Drosophila using the automated axon quantification system, MeDUsA.
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- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1524, doi. 10.1093/hmg/ddac307
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- Article
A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells.
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- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1511, doi. 10.1093/hmg/ddac306
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- Article
An altered extracellular matrix–integrin interface contributes to Huntington's disease-associated CNS dysfunction in glial and vascular cells.
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- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1483, doi. 10.1093/hmg/ddac303
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- Article
Epigenetic gestational age and the relationship with developmental milestones in early childhood.
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- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1565, doi. 10.1093/hmg/ddac302
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- Article
Parkin regulates neuronal lipid homeostasis through SREBP2-lipoprotein lipase pathway—implications for Parkinson's disease.
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- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1466, doi. 10.1093/hmg/ddac297
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- Article
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
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- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1457, doi. 10.1093/hmg/ddac296
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- Article
Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability and facial anomalies syndrome with distinctive genome-wide DNA hypomethylation.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1439, doi. 10.1093/hmg/ddac291
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- Article
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1429, doi. 10.1093/hmg/ddac289
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- Article
Dynamics and variability of transcriptomic dysregulation in congenital myotonic dystrophy during pediatric development.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1413, doi. 10.1093/hmg/ddac254
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- Publication type:
- Article