292 results on '"Karadima, Georgia"'
Search Results
2. Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
3. Screening for the FMR1 premutation in Greek patients with late-onset movement disorders
4. Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population
5. Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insights from a multimodal neuroimaging study
6. Camptocormia as an Unusual Presenting Symptom of Myotonic Dystrophy Type 2: An Overlooked Cause of Axial Myopathy
7. Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country
8. Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin‐Related Parkinson's Disease
9. The FGF14GAA repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the SCA27B phenotype across populations
10. Mutational screening of Greek patients with axonal Charcot‐Marie‐Tooth disease using targeted next‐generation sequencing: Clinical and molecular spectrum delineation
11. Three new case reports of Arteriovenous malformation-related Amyotrophic Lateral Sclerosis
12. Replication study of GWAS risk loci in Greek multiple sclerosis patients
13. A Greek National Cross-Sectional Study on Myotonic Dystrophies
14. Late-onset Huntington's disease: Diagnostic and prognostic considerations
15. Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing
16. Transthyretin (Pro24Ser) variant amyloidosis: A case report of the first patient in Greece.
17. Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation
18. Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insights from a multimodal neuroimaging study
19. DNA Repair Pathways Underlie a Common Genetic Mechanism Modulating Onset in Polyglutamine Diseases
20. Symptomatic striopallidodentate calcinosis (Fahr’s syndrome) in a thalassemic patient with hypoparathyroidism
21. HINT1‐related neuropathy in Greek patients with Charcot‐Marie‐Tooth disease
22. Genotyping and Plasma/Cerebrospinal Fluid Profiling of a Cohort of Frontotemporal Dementia–Amyotrophic Lateral Sclerosis Patients
23. Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insights from a multimodal neuroimaging study
24. Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience
25. Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach
26. BiallelicRFC1pentanucleotide repeat expansions in Greek patients with late‐onset ataxia
27. C9ORF72 hexanucleotide repeat expansions are a frequent cause of Huntington disease phenocopies in the Greek population
28. Expanding the Spectrum ofAP5Z1‐Related Hereditary Spastic Paraplegia ( HSP‐SPG48 ): A Multicenter Study on a Rare Disease
29. Spastic paraplegia preceding PSEN1 ‐related familial Alzheimer's disease
30. Friedreich's ataxia mimicking hereditary motor and sensory neuropathy
31. The rs10492972 KIF1B polymorphism and disease progression in Greek patients with multiple sclerosis
32. Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot–Marie–Tooth disease
33. Apolipoprotein E and presenilin-1 genotypes in Huntington’s disease
34. Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes
35. Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach
36. A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia
37. Elevated Serum α-Synuclein Levels in Huntington’s Disease Patients
38. Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease
39. Greek normative data and discriminant validity of the Wisconsin Card Sorting Test in Parkinson's disease and Huntington's disease patients
40. NEW MUTATION OF THE MPZ GENE IN A FAMILY WITH THE DEJERINE–SOTTAS DISEASE PHENOTYPE
41. Genotyping of presenilin-1 polymorphism in amyotrophic lateral sclerosis
42. Age at onset in Huntington's disease: Replication study on the association of HAP1
43. Erratum to: Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation
44. Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late‐onset ataxia.
45. Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach.
46. Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot‐Marie‐Tooth disease reveals a varied and unusual phenotypic spectrum
47. Apolipoprotein E polymorphism in the Greek population
48. APOE genotypes in Greek multiple sclerosis patients: no effect on the MS Severity Score
49. A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features
50. Replication study of GWAS risk loci in Greek multiple sclerosis patients
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