Works matching IS 13646745 AND DT 2024 AND VI 25 AND IP 3
Results: 13
Frequency of C9orf72, GRN, and MAPT pathogenic variants in patients recruited at the Belgrade Memory Center.
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- Neurogenetics, 2024, v. 25, n. 3, p. 193, doi. 10.1007/s10048-024-00766-8
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Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.
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- Neurogenetics, 2024, v. 25, n. 3, p. 201, doi. 10.1007/s10048-024-00765-9
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Hitting Epstein Barr virus where it hurts: computational methods exploration for siRNA therapy in alleviating Epstein Barr virus-induced multiple sclerosis.
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- Neurogenetics, 2024, v. 25, n. 3, p. 263, doi. 10.1007/s10048-024-00764-w
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Identification of established and novel extracellular matrix components in glioblastoma as targets for angiogenesis and prognosis.
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- Neurogenetics, 2024, v. 25, n. 3, p. 249, doi. 10.1007/s10048-024-00763-x
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Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.
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- Neurogenetics, 2024, v. 25, n. 3, p. 233, doi. 10.1007/s10048-024-00762-y
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Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA: Report of a new patient and review of the literature.
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- Neurogenetics, 2024, v. 25, n. 3, p. 281, doi. 10.1007/s10048-024-00754-y
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Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature.
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- Neurogenetics, 2024, v. 25, n. 3, p. 287, doi. 10.1007/s10048-024-00760-0
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Two more families supporting the existence of monogenic spinocerebellar ataxia 48.
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- Neurogenetics, 2024, v. 25, n. 3, p. 277, doi. 10.1007/s10048-024-00758-8
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The Apo gene's genetic variants: hidden role in Asian vascular risk.
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- Neurogenetics, 2024, v. 25, n. 3, p. 157, doi. 10.1007/s10048-024-00757-9
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Clinical and neuroimaging characterization of the first frontotemporal dementia family carrying the MAPT p.K298E mutation.
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- Neurogenetics, 2024, v. 25, n. 3, p. 215, doi. 10.1007/s10048-024-00756-w
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Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.
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- Neurogenetics, 2024, v. 25, n. 3, p. 165, doi. 10.1007/s10048-024-00755-x
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Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability.
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- Neurogenetics, 2024, v. 25, n. 3, p. 179, doi. 10.1007/s10048-024-00759-7
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Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71.
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- Neurogenetics, 2024, v. 25, n. 3, p. 225, doi. 10.1007/s10048-024-00753-z
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- Article