Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Sylwia Rzonca"'
Autor:
Valery Zayat, Zuzanna Kuczynska, Michal Liput, Erkan Metin, Sylwia Rzonca-Niewczas, Marta Smyk, Tomasz Mazurczak, Alicja Goszczanska-Ciuchta, Pawel Leszczynski, Dorota Hoffman-Zacharska, Leonora Buzanska
Publikováno v:
Cells, Vol 12, Iss 2, p 339 (2023)
Dravet syndrome (DRVT) is a rare form of neurodevelopmental disorder with a high risk of sudden unexpected death in epilepsy (SUDEP), caused mainly (>80% cases) by mutations in the SCN1A gene, coding the Nav1.1 protein (alfa-subunit of voltage-sensit
Externí odkaz:
https://doaj.org/article/fda844ebb4364affb5ff16e68a9a3231
Autor:
Joanna Oswiecimska, Mateusz Dawidziuk, Tomasz Gambin, Katarzyna Ziora, Marta Marek, Sylwia Rzonca, D. Lys Guilbride, Shalini N. Jhangiani, Anna Obuchowicz, Alicja Sikora, James R. Lupski, Wojciech Wiszniewski, Pawel Gawlinski
Publikováno v:
JCRPE, Vol 11, Iss 3, Pp 319-326 (2019)
Primary polyneuropathy in the context of Seip-Berardinelli type 1 seipinopathy, or congenital generalized lipodystrophy type 1 (CGL1) has not been previously reported. We report the case history of a 27 year old female CGL1 patient presenting with an
Externí odkaz:
https://doaj.org/article/4821a089932b4c249ada1740274433f5
Autor:
Lukasz M. Milanowski, Xu Hou, Jenny M. Bredenberg, Fabienne C. Fiesel, Liam T. Cocker, Alexandra I. Soto-Beasley, Ronald L. Walton, Audrey J. Strongosky, Ayman H. Faroqi, Maria Barcikowska, Magdalena Boczarska-Jedynak, Jaroslaw Dulski, Lyuda Fedoryshyn, Piotr Janik, Anna Potulska-Chromik, Katherine Karpinsky, Anna Krygowska-Wajs, Tim Lynch, Diana A. Olszewska, Grzegorz Opala, Aleksander Pulyk, Irena Rektorova, Yanosh Sanotsky, Joanna Siuda, Mariusz Widlak, Jaroslaw Slawek, Monika Rudzinska-Bar, Ryan Uitti, Monika Figura, Stanislaw Szlufik, Sylwia Rzonca-Niewczas, Elzbieta Podgorska, Pamela J. McLean, Dariusz Koziorowski, Owen A. Ross, Dorota Hoffman-Zacharska, Wolfdieter Springer, Zbigniew K. Wszolek
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 13, p 7086 (2022)
Parkinson’s disease (PD) is generally considered a sporadic disorder, but a strong genetic background is often found. The aim of this study was to identify the underlying genetic cause of PD in two affected siblings and to subsequently assess the r
Externí odkaz:
https://doaj.org/article/ea0f2ba3ea554500ae31bda32d14847a
Autor:
Ting‐Yu Lin, Robert Smigiel, Bozena Kuzniewska, Joanna J. Chmielewska, Joanna Kosińska, Mateusz Biela, Anna Biela, Anna Kościelniak, Dominika Dobosz, Izabela Laczmanska, Andrzej Chramiec‐Głąbik, Jakub Jeżowski, Jakub Nowak, Monika Gos, Sylwia Rzonca‐Niewczas, Magdalena Dziembowska, Rafał Ploski, Sebastian Glatt
Publikováno v:
Human mutationREFERENCES. 43(12)
Pseudouridine (Ψ) is an RNA base modification ubiquitously found in many types of RNAs. In humans, the isomerization of uridine is catalyzed by different stand-alone pseudouridine synthases (PUS). Genomic mutations in the human pseudouridine synthas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::160fa55f421acb8ae200d7204b4de969
https://pubmed.ncbi.nlm.nih.gov/36125428
https://pubmed.ncbi.nlm.nih.gov/36125428
Autor:
Alicja Sikora, Mateusz Dawidziuk, Anna Obuchowicz, Marta Marek, Wojciech Wiszniewski, Katarzyna Ziora, James R. Lupski, Pawel Gawlinski, Tomasz Gambin, Sylwia Rzonca, Shalini N. Jhangiani, Joanna M Oswiecimska, D. Lys Guilbride
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology. 11:319-326
Primary polyneuropathy in the context of Seip-Berardinelli type 1 seipinopathy, or congenital generalized lipodystrophy type 1 (CGL1) has not been previously reported. We report the case history of a 27 year old female CGL1 patient presenting with an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aaed3a2e13e2ede233ed662e734657d6
https://doi.org/10.4274/jcrpe.galenos.2018.2018.0227
https://doi.org/10.4274/jcrpe.galenos.2018.2018.0227
Autor:
Joanna, Oswiecimska, Mateusz, Dawidziuk, Tomasz, Gambin, Katarzyna, Ziora, Marta, Marek, Sylwia, Rzonca, D. Lys, Guilbride, Shalini N., Jhangiani, Anna, Obuchowicz, Alicja, Sikora, James R., Lupski, Wojciech, Wiszniewski, Pawel, Gawlinski
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology
Primary polyneuropathy in the context of Seip-Berardinelli type 1 seipinopathy, or congenital generalized lipodystrophy type 1 (CGL1) has not been previously reported. We report the case history of a 27 year old female CGL1 patient presenting with an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f89fdad1b422cb5a43c0524e2ade6a2f
https://pubmed.ncbi.nlm.nih.gov/30563316
https://pubmed.ncbi.nlm.nih.gov/30563316
Autor:
Alicja Sikora, Mateusz Dawidziuk, Marta Marek, Sylwia Rzonca, Anna Obuchowicz, D. Lys Guilbride, James R. Lupski, Joanna M Oswiecimska, Katarzyna Ziora, Wojciech Wiszniewski, Shalini N. Jhangiani, Tomasz Gambin, Pawel Gawlinski
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dc95c7f46916c7e53fe2976522025b07
https://doi.org/10.4274/jcrpe.0227
https://doi.org/10.4274/jcrpe.0227
Autor:
Jamel Chelly, Joanna Kosińska, Jia-Hua Hu, Philippe M. Campeau, Cindy Skinner, Piotr Stawiński, Jennifer Castaneda, Elsa Rossignol, Sylwia Rzonca, Ruihua Wang, Hilde Van Esch, Lionel Van Maldergem, Tao Wang, Paul F. Worley, Charles E. Schwartz, Emmanuelle Lemyre, Elizabeth Vincent, Jerzy Bal, Vera M. Kalscheuer, Dax A. Hoffman, Juliette Piard, Mei Han
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, 2018, 27 (4), pp.589-600. ⟨10.1093/hmg/ddx426⟩
Human Molecular Genetics, 2018, 27 (4), pp.589-600. ⟨10.1093/hmg/ddx426⟩
FRMPD4 (FERM and PDZ Domain Containing 4) is a neural scaffolding protein that interacts with PSD-95 to positively regulate dendritic spine morphogenesis, and with mGluR1/5 and Homer to regulate mGluR1/5 signaling. We report the genetic and functiona
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cfa633dd78cb4a556a21b6aa18ac487
https://hal.science/hal-03670940
https://hal.science/hal-03670940
Autor:
Michał Milewski, Jolanta Czekajska, Sylwia Rzonca, Aleksandra Landowska, Tadeusz Mazurczak, Anna Abramowicz, D Maciejko, Jerzy Bal, Monika Gos, Ewa Obersztyn, Daniel Szopa, Danuta Sielska-Rotblum, Agnieszka Szpecht-Potocka
Publikováno v:
Genes; Volume 7; Issue 9; Pages: 59
Genes, Vol 7, Iss 9, p 59 (2016)
Genes
Genes, Vol 7, Iss 9, p 59 (2016)
Genes
The article summarizes over 20 years of experience of a reference lab in fragile X mental retardation 1 gene (FMR1) molecular analysis in the molecular diagnosis of fragile X spectrum disorders. This includes fragile X syndrome (FXS), fragile X-assoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6a19f66e0ee00090db5a1c41907366f
Autor:
Agnieszka Charzewska, M. Smyk, Magdalena Nawara, D. Hoffman-Zacharska, M. Janeczko, Sylwia Rzonca, Jerzy Bal
Publikováno v:
Clinical Genetics. 88:297-299
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a60d7526a356d3f676b9ab6f748c27cd
https://doi.org/10.1111/cge.12528
https://doi.org/10.1111/cge.12528