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Kyproula Christodoulou

Kyproula Christodoulou

Cyprus Institute of Neurology & Genetics Cyprus School of Molecular Medicine - Egkomi / Cyprus
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 1442769
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person_outline Kyproula Christodoulou's MOST POPULAR ARTICLES
1-) Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V The American Journal of Human Genetics 72 (5), 1293-1299, 2003
2-) Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 Nature genetics 25, 17, 2000
3-) Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go Neuromuscular Disorders 31 (6), 574-582, 2021
4-) Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations Brain 128 (10), 2304-2314, 2005
5-) Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families Neurology 43 (11), 2179-2179, 1993