Concepedia

Kyproula Christodoulou

KC

Statistics

Publications

52

Citations

2.9K

H-Index

25

Active since

1995

Affiliations

Cyprus Institute of Neurology and Genetics(Current)

University of Nicosia

University of Cyprus

Nicosia General Hospital

Imperial College London

Kyproula Christodoulou is an author at Cyprus Institute of Neurology and Genetics specializing in genetics, life sciences, and human genetics.

ORCID

Publications per year

1995–2023

52

Publications

52

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

Anthony Antonellis, Rachel E. Ellsworth, Nyamkhishig Sambuughin et al. · The American Journal of Human Genetics · 2003 · 566 citations · Full text

, , +11

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

Alessandra Bolino, M. Muglia, F. L. Conforti et al. · Nature Genetics · 2000 · 459 citations

, , +4

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

Tamara Dangouloff, Eva Vrščaj, Laurent Servais et al. · Neuromuscular Disorders · 2021 · 172 citations

, , +12

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations

Kumaraswamy Sivakumar, Theodoros Kyriakides, Imke Puls et al. · Brain · 2005 · 133 citations · Full text

, , +17

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

Kyproula Christodoulou · Human Molecular Genetics · 1998 · 131 citations

, , +17

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