Veronika Karcagi
Affiliations: | Semmelweis Egyetem, Hungary |
Area:
Molecular BiologyGoogle:
"Veronika Karcagi"
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Publications
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| Major TC, Arany ES, Schon K, et al. (2023) Case report: Mutations in causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals. Frontiers in Neurology. 14: 1292320 |
| Beke A, Piko H, Haltrich I, et al. (2018) Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations. Bmc Medical Genetics. 19: 113 |
| Koeks Z, Bladen CL, Salgado D, et al. (2017) Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. Journal of Neuromuscular Diseases |
| Jávorszky E, Morinière V, Kerti A, et al. (2016) QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions. Clinical Chemistry and Laboratory Medicine |
| Pyle A, Nightingale HJ, Griffin H, et al. (2015) Respiratory chain deficiency in nonmitochondrial disease. Neurology. Genetics. 1: e6 |
| Bladen CL, Salgado D, Monges S, et al. (2015) The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Human Mutation. 36: 395-402 |
| Remenyi V, Inczedy-Farkas G, Komlosi K, et al. (2015) Retrospective assessment of the most common mitochondrial DNA mutations in a large Hungarian cohort of suspect mitochondrial cases. Mitochondrial Dna. 26: 572-8 |
| Pyle A, Ramesh V, Bartsakoulia M, et al. (2014) Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene. Journal of Neuromuscular Diseases. 1: 55-63 |
| Ivanov IS, Azmanov DN, Ivanova MB, et al. (2014) Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children. Molecular Genetics and Metabolism. 113: 76-83 |
| Boczonadi V, Müller JS, Pyle A, et al. (2014) EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nature Communications. 5: 4287 |