Kyproula Christodoulou
Cyprus Institute of Neurology and Genetics(CY)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Hereditary Neurological Disorders, Mitochondrial Function and Pathology, Neurological diseases and metabolism, RNA Research and Splicing
Most-Cited Works
- → Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V(2003)559 cited
- → Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2(2000)457 cited
- → Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go(2021)167 cited
- → Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations(2005)133 cited
- → Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease(1998)131 cited
- → Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p(1995)103 cited
- → A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family