289 results on '"Christodoulou, Kyproula"'
Search Results
2. Enrichr in silico analysis of MS-based extracted candidate proteomic biomarkers highlights pathogenic pathways in systemic sclerosis
3. ANO10 Function in Health and Disease
4. The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease
5. Novel de novo DNMT1 gene mutation associated with hereditary sensory and autonomic neuropathy 1E (HSAN1E)
6. PathIN: an integrated tool for the visualization of pathway interaction networks
7. Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia
8. Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country
9. Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go
10. Saponin and Phenolic Composition and Assessment of Biological Activities of Saponaria officinalis L. Root Extracts.
11. RFC1 Repeat Distribution in the Cypriot Population.
12. A Framework for Efficient N-Way Interaction Testing in Case/Control Studies With Categorical Data
13. Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient
14. Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.
15. In depth analysis of Cyprus-specific mutations of SARS-CoV-2 strains using computational approaches
16. Performance evaluation of pipelines for mapping, variant calling and interval padding, for the analysis of NGS germline panels
17. The frequency of central nervous system complications in the Cypriot cohort of ATTRV30M neuropathy transplanted patients
18. The influence of environmental risk factors in the development of ALS in the Mediterranean Island of Cyprus
19. Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript
20. Chemical Profiling and Antioxidant and Anti-Amyloid Capacities of Salvia fruticosa Extracts from Greece
21. Auditory nerve is affected in one of two different point mutations of the neurofilament light gene
22. Comparative analysis of affected and unaffected areas of systemic sclerosis skin biopsies by high-throughput proteomic approaches
23. Gene variants of adhesion molecules predispose to MS: A case-control study
24. Quantification of dysarthrοphonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated with a homozygous SPG11 mutation
25. Sideritis scardica Extracts Demonstrate Neuroprotective Activity against Aβ25–35 Toxicity
26. Molecular genetics of autosomal recessive spinocerebellar ataxias
27. ANO10 Function in Health and Disease
28. Sideritis scardica Extracts Demonstrate Neuroprotective Activity against Aβ 25–35 Toxicity.
29. Additional file 1 of Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia
30. A Novel SPG7 Gene Pathogenic Variant in a Cypriot Family With Autosomal Recessive Spastic Ataxia
31. A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature
32. Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met
33. A Framework for Efficient N-Way Interaction Testing in Case/Control Studies With Categorical Data
34. In depth analysis of Cyprus-specific mutations of SARS-CoV-2 strains using computational approaches
35. Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go
36. A novel SLC30A10 missense variant associated with parkinsonism and dystonia without hypermanganesemia
37. A Novel GBA2 Gene Missense Mutation in Spastic Ataxia
38. 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
39. Comparative analysis of affected and unaffected areas of systemic sclerosis skin biopsies by high-throughput proteomic approaches.
40. A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes
41. Greek Sage Exhibits Neuroprotective Activity against Amyloid Beta-Induced Toxicity
42. A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family
43. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. (Report)
44. Mapping of the second Friedreich's ataxia (FRDAff2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity
45. Analyzing Gene Expression Profiles from Ataxia and Spasticity Phenotypes to Reveal Spastic Ataxia Related Pathways
46. Genetic Susceptibility to Systemic Sclerosis in the Greek-Cypriot Population: A Pilot Study
47. Risk factors for breast cancer brain metastases: a systematic review
48. Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families
49. Absence of Linkage to Chromosomes 6q and 16p in a Greek Population with Knee Osteoarthritis
50. The Cypriot and Iranian National Mutation Frequency Databases
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