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Novel de novo DNMT1 gene mutation associated with hereditary sensory and autonomic neuropathy 1E (HSAN1E).
- Published in:
- Neurological Sciences, 2023, v. 44, n. 6, p. 2199, doi. 10.1007/s10072-023-06652-9
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- Article
The frequency of central nervous system complications in the Cypriot cohort of ATTRV30M neuropathy transplanted patients.
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- 2020
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- Publication type:
- journal article
Quantification of dysarthrοphonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated with a homozygous SPG11 mutation.
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- 2018
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- Publication type:
- journal article
Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1-and PKD2-linked markers in Cypriot families.
- Published in:
- Clinical Genetics, 1996, v. 50, n. 1, p. 10, doi. 10.1111/j.1399-0004.1996.tb02339.x
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- Article
Analyzing Gene Expression Profiles from Ataxia and Spasticity Phenotypes to Reveal Spastic Ataxia Related Pathways.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 18, p. 6722, doi. 10.3390/ijms21186722
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- Article
Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 10, p. 3099, doi. 10.3390/ijms19103099
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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
ANO10 Function in Health and Disease.
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- Cerebellum, 2023, v. 22, n. 3, p. 447, doi. 10.1007/s12311-022-01395-3
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- Article
Enrichr in silico analysis of MS-based extracted candidate proteomic biomarkers highlights pathogenic pathways in systemic sclerosis.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-29054-5
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- Publication type:
- Article
The influence of environmental risk factors in the development of ALS in the Mediterranean Island of Cyprus.
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- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1264743
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- Publication type:
- Article
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
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- Nature Genetics, 2000, v. 25, n. 1, p. 17, doi. 10.1038/75542
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- Publication type:
- Article
Congenital Myasthenic Syndrome (CMS) Type Ia: Clinical and Genetic Diversity<sup>a</sup>.
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- Annals of the New York Academy of Sciences, 1998, v. 841, n. 1, p. 157, doi. 10.1111/j.1749-6632.1998.tb10922.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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- 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.
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- Cell Journal (Yakhteh), 2018, v. 20, n. 3, p. 340, doi. 10.22074/cellj.2018.5352
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- Article
A Novel GBA2 Gene Missense Mutation in Spastic Ataxia.
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- Annals of Human Genetics, 2014, v. 78, n. 1, p. 13, doi. 10.1111/ahg.12045
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- Article
Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
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- Brain: A Journal of Neurology, 2005, v. 128, n. 10, p. 2304
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- Article
Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript.
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- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1241195
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- Publication type:
- Article
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
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- 2019
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- Publication type:
- journal 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
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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- Article
A Novel SPG7 Gene Pathogenic Variant in a Cypriot Family With Autosomal Recessive Spastic Ataxia.
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- Frontiers in Genetics, 2022, v. 12, p. 1, doi. 10.3389/fgene.2021.812640
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- Article
A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.746101
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- 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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- Article
Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.
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- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09515-4
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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.
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- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09515-4
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- Publication type:
- Article
Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy.
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- Journal of Interventional Cardiac Electrophysiology, 2007, v. 19, n. 1, p. 1, doi. 10.1007/s10840-007-9133-x
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- Article
The Cypriot and Iranian National Mutation Frequency Databases.
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- Human Mutation, 2006, v. 27, n. 6, p. 598, doi. 10.1002/humu.9422
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- Publication type:
- Article
In depth analysis of Cyprus-specific mutations of SARS-CoV-2 strains using computational approaches.
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- BMC Genomic Data, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12863-021-01007-9
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- Article
Saponin and Phenolic Composition and Assessment of Biological Activities of Saponaria officinalis L. Root Extracts.
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- Plants (2223-7747), 2024, v. 13, n. 14, p. 1982, doi. 10.3390/plants13141982
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- Publication type:
- Article
Chemical Profiling and Antioxidant and Anti-Amyloid Capacities of Salvia fruticosa Extracts from Greece.
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- Plants (2223-7747), 2023, v. 12, n. 18, p. 3191, doi. 10.3390/plants12183191
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- Publication type:
- Article
Sideritis scardica Extracts Demonstrate Neuroprotective Activity against Aβ 25–35 Toxicity.
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- Plants (2223-7747), 2023, v. 12, n. 8, p. 1716, doi. 10.3390/plants12081716
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- Publication type:
- Article
Type 2 Diabetes Susceptibility in the Greek-Cypriot Population: Replication of Associations with TCF7L2, FTO, HHEX, SLC30A8 and IGF2BP2 Polymorphisms.
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- Genes, 2017, v. 8, n. 1, p. 16, doi. 10.3390/genes8010016
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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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- 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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- Article
A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12.
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- Annals of Neurology, 2000, v. 48, n. 6, p. 877, doi. 10.1002/1531-8249(200012)48:6<877::AID-ANA8>3.0.CO;2-#
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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.
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- Neurogenetics, 2004, v. 5, n. 3, p. 171, doi. 10.1007/s10048-004-0184-1
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- Publication type:
- Article
Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease (ADMCKD).
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 5, p. 905, doi. 10.1093/hmg/7.5.905
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- Article
Mapping of the Familial Infantile Myasthenia (Congenital Myasthenic Syndrome Type Ia) Gene to Chromosome 17p with Evidence of Genetic Homogeneity.
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- Human Molecular Genetics, 1997, v. 6, n. 4, p. 635, doi. 10.1093/hmg/6.4.635
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- Article
Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p.
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- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1629
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- Publication type:
- Article
Absence of linkage to chromosomes 6q and 16p in a Greek population with knee osteoarthritis.
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- Journal of Orthopaedic Research, 2006, v. 24, n. 9, p. 1900, doi. 10.1002/jor.20236
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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.
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- BMC Medical Genetics, 2008, v. 9, p. 1, doi. 10.1186/1471-2350-9-28
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- Publication type:
- Article
Performance evaluation of pipelines for mapping, variant calling and interval padding, for the analysis of NGS germline panels.
- Published in:
- BMC Bioinformatics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12859-021-04144-1
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- Publication type:
- Article