Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Petra Jungová"'
Autor:
Michal Gašparovič, Petra Jungová, Juraj Tomášik, Bela Mriňáková, Dušan Hirjak, Silvia Timková, Ľuboš Danišovič, Marián Janek, Ľuboš Bača, Peter Peciar, Andrej Thurzo
Publikováno v:
Applied Sciences, Vol 14, Iss 6, p 2270 (2024)
Regenerative dentistry has experienced remarkable advancement in recent years. The interdisciplinary discoveries in stem cell applications and scaffold design and fabrication, including novel techniques and biomaterials, have demonstrated immense pot
Externí odkaz:
https://doaj.org/article/071a7d41539541e3bd2764b75fc9cd88
Autor:
Monika Turčanová Koprušáková, Milan Grofik, Ema Kantorová, Petra Jungová, Ján Chandoga, Martin Kolisek, Peter Valkovič, Matej Škorvánek, Rafal Ploski, Egon Kurča, Štefan Sivák
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-8 (2021)
Abstract Background Charcot-Marie-Tooth 1C (CMT1C) is a rare form of dominantly inherited CMT1 neuropathy caused by a mutated gene encoding lipopolysaccharide-induced tumour necrosis alpha factor (LITAF). Case presentation We report a 56-year-old pat
Externí odkaz:
https://doaj.org/article/f1d49a1d34274345bce22bf73acd3991
Autor:
Mária Ondrejkovičová, Sylvia Dražilová, Monika Drakulová, Juan López Siles, Renáta Zemjarová Mezenská, Petra Jungová, Martin Fabián, Boris Rychlý, Miroslav Žigrai
Publikováno v:
BMC Gastroenterology, Vol 20, Iss 1, Pp 1-6 (2020)
Abstract Background Aceruloplasminaemia is a very rare autosomal recessive disorder caused by a mutation in the ceruloplasmin gene, which is clinically manifested by damage to the nervous system and retinal degeneration. This classical clinical pictu
Externí odkaz:
https://doaj.org/article/ccea115b715643bcb145806b35267f60
Autor:
Jana Lisyová, Ján Chandoga, Petra Jungová, Marcel Repiský, Mária Knapková, Martina Machková, Svetozár Dluholucký, Darina Behúlová, Jana Šaligová, Ľudmila Potočňáková, Miroslava Lysinová, Daniel Böhmer
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-12 (2018)
Abstract Background Short-chain acyl-CoA dehydrogenase deficiency (SCADD) represents a rare autosomal recessive inborn metabolic disorder of mitochondrial β-oxidation of monocarboxylic acids. Clinical symptoms can vary from a severe life-threatening
Externí odkaz:
https://doaj.org/article/2208620606eb4afeb4c756b1436fd715
Autor:
Matej Skorvanek, Milan Grofik, Monika Turcanova Koprusakova, Ján Chandoga, Peter Valkovič, Štefan Sivák, Petra Jungová, Martin Kolisek, Egon Kurča, Rafał Płoski, Ema Kantorová
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-8 (2021)
BMC Neurology
BMC Neurology
Background Charcot-Marie-Tooth 1C (CMT1C) is a rare form of dominantly inherited CMT1 neuropathy caused by a mutated gene encoding lipopolysaccharide-induced tumour necrosis alpha factor (LITAF). Case presentation We report a 56-year-old patient with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c40e291358df1b0490887ead1ed4a55
https://doi.org/10.1186/s12883-021-02316-3
https://doi.org/10.1186/s12883-021-02316-3
Autor:
Ján Chandoga, Daniela Gasperikova, Slavomíra Mattošová, Petra Jungová, Miriam Kolnikova, Tomas Foltan, Martina Skopkova
Publikováno v:
Journal of Molecular Neuroscience. 67:559-563
Impairment of saposin B causes rare atypical metachromatic leukodystrophy (MLD). It is encoded (together with saposin A, C, and D) by the PSAP gene. Only ten pathogenic variants were described in the PSAP gene in MLD patients to date. We report on tw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d6e1a3dd28fd631230c49c02c209ce4
https://doi.org/10.1007/s12031-019-1259-7
https://doi.org/10.1007/s12031-019-1259-7
Autor:
Martin Fabian, Petra Jungová, Renáta Zemjarová Mezenská, Boris Rychlý, Miroslav Žigrai, Juan López Siles, Monika Drakulová, Mária Ondrejkovičová, Sylvia Dražilová
Publikováno v:
BMC Gastroenterology
BMC Gastroenterology, Vol 20, Iss 1, Pp 1-6 (2020)
BMC Gastroenterology, Vol 20, Iss 1, Pp 1-6 (2020)
Background Aceruloplasminaemia is a very rare autosomal recessive disorder caused by a mutation in the ceruloplasmin gene, which is clinically manifested by damage to the nervous system and retinal degeneration. This classical clinical picture can be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ce99306bc0ca212899fd5842708d372
http://europepmc.org/articles/PMC7137234
http://europepmc.org/articles/PMC7137234
Autor:
Ján Chandoga, Petra Jungová, Jana Lisyová, Daniel Bӧhmer, P. Ďurina, Veronika Kramarová, Andrea Čumová
Publikováno v:
Neurocase. 24:227-230
Phelan-McDermid syndrome (PMD) is a rare genetic condition with only a few cases describing patients diagnosed as adults. We describe a long diagnostic odyssey of a 30-year-old woman who was diagnosed with Phelan-McDermid syndrom. Array comparative g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b01d85869b3362a87da00570dccaf6d3
https://doi.org/10.1080/13554794.2018.1542007
https://doi.org/10.1080/13554794.2018.1542007
Autor:
Zuzana Cierna, Petra Jungová, Lucia Strieskova, Braxatorisová T, Pavol Janega, František Grochal, Vladimír Ferianec, Tomáš Szemes, J. Malová
Publikováno v:
Pediatric and Developmental Pathology. 20:449-454
Meckel-Gruber syndrome (MKS) is a rare lethal autosomal recessive disorder with typical anomalies including encephalocele, multicystic renal dysplasia, congenital liver fibrosis, and polydactyly. MKS is caused by mutations of genes localized on diffe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4550f65ae4df599539c16aac75c05387
https://doi.org/10.1177/1093526616689184
https://doi.org/10.1177/1093526616689184
Autor:
Miroslava Lysinová, Svetozár Dluholucký, D. Behulova, Ján Chandoga, Petra Jungová, Mária Knapková, Jana Lisyová, Marcel Repiský, Martina Machková, Daniel Böhmer, Ľudmila Potočňáková, Jana Saligová
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-12 (2018)
BMC Medical Genetics
BMC Medical Genetics
Background Short-chain acyl-CoA dehydrogenase deficiency (SCADD) represents a rare autosomal recessive inborn metabolic disorder of mitochondrial β-oxidation of monocarboxylic acids. Clinical symptoms can vary from a severe life-threatening conditio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d785ab2a67679b466416ffeec3a88c74
https://doi.org/10.1186/s12881-018-0566-0
https://doi.org/10.1186/s12881-018-0566-0