Lista de obras - Kyproula Christodoulou - Dominio Público Uruguay

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

artículo científico publicado en 2003

A novel GBA2 gene missense mutation in spastic ataxia.

artículo científico publicado en 2013

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

artículo científico publicado en 2002

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

artículo científico publicado en 2004

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

artículo científico publicado en 2008

ANO10 Function in Health and Disease

artículo científico publicado en 2022

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

artículo científico publicado en 2006

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

scientific article published on 14 September 2020

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

scientific article published on 10 October 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2000

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

artículo científico publicado el 1 de mayo de 1998

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

artículo científico publicado en 2020

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

artículo científico publicado en 2009

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

artículo científico publicado el 2 de febrero de 2009

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

artículo científico publicado el 13 de mayo de 1998

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

artículo científico publicado en 2019

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

artículo científico publicado en 2019

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

scientific article published on 20 December 2018

Familial Asymmetric Distal Upper Limb Amyotrophy (Hirayama Disease)

scientific article published on 01 May 2009

Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families

artículo científico

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

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

artículo científico publicado en 1995

Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.

artículo científico publicado en 2001

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

artículo científico publicado el 1 de mayo de 1998

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation

artículo científico publicado en 2019

The cypriot and Iranian National Mutation Frequency Databases.

artículo científico publicado en 2006

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

artículo científico publicado en 2022

Lista de obras de Kyproula Christodoulou

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

A novel GBA2 gene missense mutation in spastic ataxia.

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

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

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

ANO10 Function in Health and Disease

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

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

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

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

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

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

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

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

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

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

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

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

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

Familial Asymmetric Distal Upper Limb Amyotrophy (Hirayama Disease)

Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families

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

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

Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.

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

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation

The cypriot and Iranian National Mutation Frequency Databases.

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