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Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09515-4
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- Publication type:
- Article
Charcot-Marie-Tooth Disease in Cyprus: Epidemiological, Clinical and Genetic Characteristics.
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- Neuroepidemiology, 2010, v. 35, n. 3, p. 171, doi. 10.1159/000314351
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- Publication type:
- Article
A Novel SPG7 Gene Pathogenic Variant in a Cypriot Family With Autosomal Recessive Spastic Ataxia.
- Published in:
- Frontiers in Genetics, 2022, v. 12, p. 1, doi. 10.3389/fgene.2021.812640
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- Publication type:
- Article
A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature.
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- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.746101
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- Publication type:
- Article
Comparative analysis of affected and unaffected areas of systemic sclerosis skin biopsies by high-throughput proteomic approaches.
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- Arthritis Research & Therapy, 2020, v. 22, n. 1, p. 1, doi. 10.1186/s13075-020-02196-x
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- Publication type:
- Article
A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease.
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- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 190, doi. 10.1038/ejhg.2012.146
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- Article
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
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- 2019
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- Publication type:
- journal article
Enrichr in silico analysis of MS-based extracted candidate proteomic biomarkers highlights pathogenic pathways in systemic sclerosis.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-29054-5
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- Publication type:
- Article
LRSAM1 Depletion Affects Neuroblastoma SH-SY5Y Cell Growth and Morphology: The LRSAM1 c.2047-1G>A Loss-of-Function Variant Fails to Rescue The Phenotype.
- Published in:
- Cell Journal (Yakhteh), 2018, v. 20, n. 3, p. 340, doi. 10.22074/cellj.2018.5352
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- Publication type:
- Article
Down-Regulation of Myogenin Can Reverse Terminal Muscle Cell Differentiation.
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- PLoS ONE, 2012, v. 7, n. 1, p. 1, doi. 10.1371/journal.pone.0029896
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- Publication type:
- Article
Greek Sage Exhibits Neuroprotective Activity against Amyloid Beta-Induced Toxicity.
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- Evidence-based Complementary & Alternative Medicine (eCAM), 2020, p. 1, doi. 10.1155/2020/2975284
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- Publication type:
- Article
The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease.
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- Journal of Neurology, 2023, v. 270, n. 5, p. 2576, doi. 10.1007/s00415-023-11581-w
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- Publication type:
- Article
Editorial: Neuronal ceroid lipofuscinosis: molecular genetics and epigenetics.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1430703
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- Publication type:
- Article
Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia.
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- Cell & Bioscience, 2022, v. 12, n. 1, p. 1, doi. 10.1186/s13578-022-00754-1
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- Publication type:
- Article
Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1241195
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- Publication type:
- Article
Deregulation of LRSAM1 expression impairs the levels of TSG101, UBE2N, VPS28, MDM2 and EGFR.
- Published in:
- PLoS ONE, 2019, v. 14, n. 2, p. 1, doi. 10.1371/journal.pone.0211814
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- Publication type:
- Article
A novel c.5308_5311 delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia.
- Published in:
- BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-28
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- Publication type:
- Article
A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes.
- Published in:
- Neurogenetics, 2004, v. 5, n. 3, p. 171, doi. 10.1007/s10048-004-0184-1
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- Publication type:
- Article
Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.
- Published in:
- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09515-4
- By:
- Publication type:
- Article
The influence of environmental risk factors in the development of ALS in the Mediterranean Island of Cyprus.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1264743
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- Publication type:
- Article