All Stories

  1. Novel de novo DNMT1 gene mutation associated with hereditary sensory and autonomic neuropathy 1E (HSAN1E)

    Article • Neurological Sciences, February 2023, Springer Science + Business Media

    Professor Kyproula Christodoulou

  2. The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease

    Article • Journal of Neurology, February 2023, Springer Science + Business Media

    Professor Kyproula Christodoulou

  3. Enrichr in silico analysis of MS-based extracted candidate proteomic biomarkers highlights pathogenic pathways in systemic sclerosis

    Article • Scientific Reports, February 2023, Springer Science + Business Media

    Professor Kyproula Christodoulou

  4. PathIN: an integrated tool for the visualization of pathway interaction networks

    Article • Computational and Structural Biotechnology Journal, January 2023, Elsevier

    Professor Kyproula Christodoulou

  5. ANO10 Function in Health and Disease

    Article • The Cerebellum, June 2022, Springer Science + Business Media

    Professor Kyproula Christodoulou

  6. Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia

    Article • Cell & Bioscience, March 2022, Springer Science + Business Media

    Alessio Di Fonzo, Professor Kyproula Christodoulou

  7. A Novel SPG7 Gene Pathogenic Variant in a Cypriot Family With Autosomal Recessive Spastic Ataxia

    Article • Frontiers in Genetics, January 2022, Frontiers

    Professor Kyproula Christodoulou

  8. Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country

    Article • Neuromuscular Disorders, December 2021, Elsevier

    Professor Kyproula Christodoulou

  9. A Novel CLN6 Variant Associated With Juvenile Neuronal Ceroid Lipofuscinosis in Patients With Absence of Visual Loss as a Presenting Feature

    Article • Frontiers in Genetics, November 2021, Frontiers

    Professor Kyproula Christodoulou

  10. In depth analysis of Cyprus-specific mutations of SARS-CoV-2 strains using computational approaches

    Article • June 2021, Cold Spring Harbor Laboratory Press

    Professor Kyproula Christodoulou

  11. Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

    Article • Neuromuscular Disorders, June 2021, Elsevier

    Professor Kyproula Christodoulou

  12. Performance evaluation of pipelines for mapping, variant calling and interval padding, for the analysis of NGS germline panels

    Article • BMC Bioinformatics, April 2021, Springer Science + Business Media

    Professor Kyproula Christodoulou

  13. A Framework for Efficient N-Way Interaction Testing in Case/Control Studies With Categorical Data

    Article • IEEE Open Journal of Engineering in Medicine and Biology, January 2021, Institute of Electrical & Electronics Engineers (IEEE)

    Professor Kyproula Christodoulou

  14. Greek Sage Exhibits Neuroprotective Activity against Amyloid Beta-Induced Toxicity

    Article • Evidence-based Complementary and Alternative Medicine, December 2020, Hindawi Publishing Corporation

    Professor Kyproula Christodoulou

  15. A novel SLC30A10 missense variant associated with parkinsonism and dystonia without hypermanganesemia

    Article • Journal of the Neurological Sciences, November 2020, Elsevier

    Professor Kyproula Christodoulou

  16. Analyzing Gene Expression Profiles from Ataxia and Spasticity Phenotypes to Reveal Spastic Ataxia Related Pathways

    Article • International Journal of Molecular Sciences, September 2020, MDPI AG

    Professor Kyproula Christodoulou

  17. Comparative analysis of affected and unaffected areas of systemic sclerosis skin biopsies by high-throughput proteomic approaches

    Article • May 2020, Springer Science + Business Media

    Professor Kyproula Christodoulou

  18. Genetic Susceptibility to Systemic Sclerosis in the Greek-Cypriot Population: A Pilot Study

    Article • Genetic Testing and Molecular Biomarkers, May 2020, Mary Ann Liebert Inc

    Professor Kyproula Christodoulou

  19. 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

    Article • European Journal of Medical Genetics, March 2020, Elsevier

    Professor Kyproula Christodoulou

  20. Risk factors for breast cancer brain metastases: a systematic review

    Article • Oncotarget, February 2020, Impact Journals, LLC

    Professor Kyproula Christodoulou

  21. The frequency of central nervous system complications in the Cypriot cohort of ATTRV30M neuropathy transplanted patients

    Article • Neurological Sciences, January 2020, Springer Science + Business Media

    Professor Kyproula Christodoulou

  22. Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation

    Article • Journal of Medical Genetics, September 2019, BMJ

    Professor Kyproula Christodoulou

  23. PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

    Article • Annals of Neurology, July 2019, Wiley

    Prof Maria Rosaria Conte, Professor Kyproula Christodoulou, Nourelhoda Haridy

  24. Deregulation of LRSAM1 expression impairs the levels of TSG101, UBE2N, VPS28, MDM2 and EGFR

    Article • PLoS ONE, February 2019, PLOS

    Professor Kyproula Christodoulou

  25. Gene variants of adhesion molecules predispose to MS: A case-control study

    Article • Neurology Genetics, January 2019, Wolters Kluwer Health

    Professor Kyproula Christodoulou

  26. Revealing Clusters of Connected Pathways Through Multisource Data Integration in Huntington's Disease and Spastic Ataxia

    Article • IEEE Journal of Biomedical and Health Informatics, January 2019, Institute of Electrical & Electronics Engineers (IEEE)

    Professor Kyproula Christodoulou

  27. Epidemiology of ATTRV30M neuropathy in Cyprus and the modifier effect of complement C1q on the age of disease onset

    Article • Amyloid, December 2018, Taylor & Francis

    Professor Kyproula Christodoulou

  28. Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia

    Article • International Journal of Molecular Sciences, October 2018, MDPI AG

    Professor Kyproula Christodoulou

  29. Quantification of dysarthrοphonia in a Cypriot family with autosomal recessive hereditary spastic paraplegia associated with a homozygous SPG11 mutation

    Article • Neurological Sciences, May 2018, Springer Science + Business Media

    Professor Kyproula Christodoulou

  30. Epidemiology of Huntington disease in Cyprus: A 20-year retrospective study

    Article • Clinical Genetics, February 2018, Wiley

    Professor Kyproula Christodoulou

  31. Gene variants of adhesion molecules act as modifiers of disease severity in MS

    Article • Neurology Neuroimmunology & Neuroinflammation, April 2017, Wolters Kluwer Health

    Professor Kyproula Christodoulou

  32. Type 2 Diabetes Susceptibility in the Greek-Cypriot Population: Replication of Associations with TCF7L2, FTO, HHEX, SLC30A8 and IGF2BP2 Polymorphisms

    Article • Genes, January 2017, MDPI AG

    Professor Kyproula Christodoulou

  33. Genomic and genetic studies of systemic sclerosis: A systematic review

    Article • Human Immunology, October 2016, Elsevier

    Professor Kyproula Christodoulou

  34. Genetic findings of Cypriot spinal muscular atrophy patients

    Article • Neurological Sciences, May 2015, Springer Science + Business Media

    Professor Kyproula Christodoulou

  35. Friedreich's ataxia and other hereditary ataxias in Greece: An 18-year perspective

    Article • Journal of the Neurological Sciences, January 2014, Elsevier

    Professor Kyproula Christodoulou

  36. A NovelGBA2Gene Missense Mutation in Spastic Ataxia

    Article • Annals of Human Genetics, November 2013, Wiley

    Professor Kyproula Christodoulou

  37. Molecular diagnosis of autosomal recessive cerebellar ataxia in the whole exome/genome sequencing era

    Article • World Journal of Neurology, January 2013, Baishideng Publishing Group Co., Limited (formerly WJG Press)

    Professor Kyproula Christodoulou

  38. Advances in the molecular diagnosis of Charcot-Marie-Tooth disease

    Article • World Journal of Neurology, January 2013, Baishideng Publishing Group Co., Limited (formerly WJG Press)

    Professor Kyproula Christodoulou

  39. Investigation of SCA10 in the Cypriot population: Further exclusion of SCA dynamic repeat mutations

    Article • Journal of the Neurological Sciences, December 2012, Elsevier

    Professor Kyproula Christodoulou

  40. A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease

    Article • European Journal of Human Genetics, July 2012, Nature

    Professor Kyproula Christodoulou

  41. Huntington's disease in Greece: the experience of 14 years

    Article • Clinical Genetics, December 2010, Wiley

    Professor Kyproula Christodoulou

  42. EMQN Best Practice Guidelines for molecular genetic testing of SCAs

    Article • European Journal of Human Genetics, February 2010, Nature

    Jorge Sequeiros, Prof Maria Luiza Saraiva-Pereira, Professor Kyproula Christodoulou

  43. Charcot-Marie-Tooth Disease in Cyprus: Epidemiological, Clinical and Genetic Characteristics

    Article • Neuroepidemiology, January 2010, Karger Publishers

    Professor Kyproula Christodoulou

  44. Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene

    Article • Neurological Sciences, December 2009, Springer Science + Business Media

    Professor Anastasios E Germenis, Professor Kyproula Christodoulou

  45. Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met

    Article • Journal of the Neurological Sciences, September 2009, Elsevier

    Professor Kyproula Christodoulou

  46. Familial Asymmetric Distal Upper Limb Amyotrophy (Hirayama Disease)

    Article • The Neurologist, May 2009, Wolters Kluwer Health

    Professor Kyproula Christodoulou

  47. Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit

    Article • BMJ Case Reports, February 2009, BMJ

    Professor Kyproula Christodoulou

  48. A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family

    Article • Neurology, January 2009, Wolters Kluwer Health

    Professor Kyproula Christodoulou

  49. Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus

    Article • Amyloid, January 2009, Taylor & Francis

    Professor Kyproula Christodoulou

  50. Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1-and PKD2-linked markers in Cypriot families

    Article • Clinical Genetics, June 2008, Wiley

    Professor Kyproula Christodoulou

  51. A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

    Article • BMC Medical Genetics, April 2008, Springer Science + Business Media

    Professor Kyproula Christodoulou

  52. Auditory nerve is affected in one of two different point mutations of the neurofilament light gene

    Article • Clinical Neurophysiology, February 2008, Elsevier

    Professor Kyproula Christodoulou

  53. Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit

    Article • Journal of Neurology Neurosurgery & Psychiatry, February 2008, BMJ

    Professor Kyproula Christodoulou

  54. 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

    Article • Journal of Interventional Cardiac Electrophysiology, June 2007, Springer Science + Business Media

    Professor Kyproula Christodoulou

  55. A Novel GDAP1 Mutation 439delA is Associated with Autosomal Recessive CMT Disease

    Article • Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, August 2006, Cambridge University Press

    Professor Kyproula Christodoulou

  56. Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X

    Article • Neurology, February 2006, Wolters Kluwer Health

    Professor Kyproula Christodoulou

  57. The Cypriot and Iranian National Mutation Frequency Databases

    Article • Human Mutation, January 2006, Wiley

    Professor Kyproula Christodoulou

  58. Absence of linkage to chromosomes 6q and 16p in a Greek population with knee osteoarthritis

    Article • Journal of Orthopaedic Research®, January 2006, Wiley

    Professor Kyproula Christodoulou

  59. Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations

    Article • Brain, July 2005, Oxford University Press (OUP)

    Professor Kyproula Christodoulou

  60. A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes

    Article • Neurogenetics, June 2004, Springer Science + Business Media

    Professor Kyproula Christodoulou

  61. A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33

    Article • American Journal of Medical Genetics, August 2003, Wiley

    Professor Kyproula Christodoulou

  62. Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

    Article • The American Journal of Human Genetics, May 2003, Elsevier

    Professor Kyproula Christodoulou

  63. A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family

    Article • Neurogenetics, October 2002, Springer Science + Business Media

    Professor Kyproula Christodoulou

  64. Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3

    Article • Journal of Medical Genetics, July 2002, BMJ

    Professor Kyproula Christodoulou

  65. Mapping of the second Friedreich's ataxia (FRDAff2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity

    Article • Neurogenetics, April 2001, Springer Science + Business Media

    Professor Kyproula Christodoulou

  66. A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1–p12

    Article • Annals of Neurology, December 2000, Wiley

    Professor Kyproula Christodoulou

  67. A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1–p12

    Article • Annals of Neurology, December 2000, Wiley

    Professor Kyproula Christodoulou

  68. Fundamental Gating Mechanism of Nicotinic Receptor Channel Revealed by Mutation Causing a Congenital Myasthenic Syndrome

    Article • The Journal of General Physiology, August 2000, Rockefeller University Press

    Professor Kyproula Christodoulou

  69. An Italian family with autosomal recessive quadriceps-sparing inclusion-body myopathy (ARQS-IBM) linked to chromosome 9p1

    Article • Neurological Sciences, June 2000, Springer Science + Business Media

    Professor Kyproula Christodoulou

  70. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2

    Article • Nature Genetics, May 2000, Nature

    Professor Kyproula Christodoulou

  71. Genetic Refinement and Physical Mapping of the CMT4B Gene on Chromosome 11q22

    Article • Genomics, January 2000, Elsevier

    Professor Kyproula Christodoulou

  72. Distal Hereditary Motor Neuronopathy of the Jerash Type

    Article • Annals of the New York Academy of Sciences, October 1999, Wiley

    Professor Kyproula Christodoulou

  73. Distal Hereditary Motor Neuronopathy of the Jerash Type

    Article • Annals of the New York Academy of Sciences, October 1999, Wiley

    Professor Kyproula Christodoulou

  74. Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor  -subunit gene

    Article • Neurology, September 1999, Wolters Kluwer Health

    Professor Kyproula Christodoulou

  75. Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: No allelism with nephronophthisis type 1

    Article • American Journal of Medical Genetics, May 1998, Wiley

    Professor Kyproula Christodoulou

  76. Congenital Myasthenic Syndrome (CMS) Type Ia: Clinical and Genetic Diversitya

    Article • Annals of the New York Academy of Sciences, May 1998, Wiley

    Professor Kyproula Christodoulou

  77. Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease

    Article • Human Molecular Genetics, May 1998, Oxford University Press (OUP)

    Professor Kyproula Christodoulou

  78. Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity

    Article • Human Molecular Genetics, April 1997, Oxford University Press (OUP)

    Professor Kyproula Christodoulou

  79. Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families

    Article • Human Genetics, April 1995, Springer Science + Business Media

    Professor Kyproula Christodoulou

  80. Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p

    Article • Human Molecular Genetics, January 1995, Oxford University Press (OUP)

    Professor Kyproula Christodoulou

  81. Molecular genetic detection of Xp21 muscular dystrophy carriers in Cyprus

    Article • Biomedicine & Pharmacotherapy, January 1994, Elsevier

    Professor Kyproula Christodoulou

  82. Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families

    Article • Neurology, November 1993, Wolters Kluwer Health

    Professor Kyproula Christodoulou

  83. New hereditary malformation syndrome of unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects

    Article • American Journal of Medical Genetics, December 1992, Wiley

    Professor Kyproula Christodoulou

  84. Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis

    Article • Neurology, September 1992, Wolters Kluwer Health

    Professor Kyproula Christodoulou

  85. Weak Evidence for Allelic Association in the Cypriot PKD1 Population

    Article • Karger Publishers

    Professor Kyproula Christodoulou