Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Jakub P. Fichna"'
Autor:
Pritesh R. Jain, Myson Burch, Melanie Martinez, Pablo Mir, Jakub P. Fichna, Cezary Zekanowski, Renata Rizzo, Zeynep Tümer, Csaba Barta, Evangelia Yannaki, John Stamatoyannopoulos, Petros Drineas, Peristera Paschou
Publikováno v:
BMC Genomic Data, Vol 24, Iss 1, Pp 1-12 (2023)
Abstract Complex disorders are caused by a combination of genetic, environmental and lifestyle factors, and their prevalence can vary greatly across different populations. The extent to which genetic risk, as identified by Genome Wide Association Stu
Externí odkaz:
https://doaj.org/article/8998ed9cbc534c00a98e747b63320443
Autor:
Anna Macias, Jakub Piotr Fichna, Malgorzata Topolewska, Maria J. Rȩdowicz, Anna M. Kaminska, Anna Kostera-Pruszczyk
Publikováno v:
Frontiers in Neuroscience, Vol 15 (2021)
Limb–girdle muscular dystrophy type R1 (LGMDR1) is caused by mutations in CAPN3 and is the most common type of recessive LGMD. Even with the use of whole-exome sequencing (WES), only one mutant allele of CAPN3 is found in a significant number of LG
Externí odkaz:
https://doaj.org/article/337ad31ac4cd4a9d8166ab21a5852521
Autor:
Jakub P. Fichna, Małgorzata Borczyk, Marcin Piechota, Michał Korostynski, Cezary Zekanowski, Piotr Janik
Publikováno v:
Journal of Psychiatry and Neuroscience. 48:E179-E189
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1ec7b278321ca86ad36c626e29b93f11
https://doi.org/10.1503/jpn.220206
https://doi.org/10.1503/jpn.220206
Autor:
Natalia Szejko, Jakub Piotr Fichna, Krzysztof Safranow, Tomasz Dziuba, Cezary Żekanowski, Piotr Janik
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
BackgroundGilles de la Tourette syndrome (GTS) is a neuropsychiatric disorder of unknown etiology, although a major role of genetic factors has been established. Cannabis-based medicines may alleviate GTS-associated tics and variants of CNR1 gene enc
Externí odkaz:
https://doaj.org/article/46ab2198d22a49ae9a9f041150a303f1
Autor:
Jakub Piotr Fichna, Anna Macias, Marcin Piechota, Michał Korostyński, Anna Potulska-Chromik, Maria Jolanta Redowicz, Cezary Zekanowski
Publikováno v:
Human Genomics, Vol 12, Iss 1, Pp 1-12 (2018)
Abstract Background Limb girdle muscular dystrophies (LGMD) are a group of heterogeneous hereditary myopathies with similar clinical symptoms. Disease onset and progression are highly variable, with an elusive genetic background, and around 50% cases
Externí odkaz:
https://doaj.org/article/678163c3cea44410abb8a209c377c8ed
Autor:
Malgorzata Borczyk, Jakub P Fichna, Marcin Piechota, Sławomir Gołda, Michal Korostyński, Piotr Janik, Cezary Żekanowski
Gilles de la Tourette syndrome (GTS) is a neurodevelopmental disorder from the spectrum of tic disorders (TDs). GTS and other TDs have a substantial genetic component with the heritability estimated at between 60 and 80%. Here we propose an oligogeni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c20cbc376b4ad3fcbfe5424dbdb234e2
https://doi.org/10.1101/2021.12.09.21266782
https://doi.org/10.1101/2021.12.09.21266782
Autor:
Jakub Piotr Fichna, Justyna Karolczak, Anna Potulska-Chromik, Przemyslaw Miszta, Mariusz Berdynski, Agata Sikorska, Slawomir Filipek, Maria Jolanta Redowicz, Anna Kaminska, Cezary Zekanowski
Publikováno v:
PLoS ONE, Vol 9, Iss 12, p e115470 (2014)
Desmin is a muscle-specific intermediate filament protein which forms a network connecting the sarcomere, T tubules, sarcolemma, nuclear membrane, mitochondria and other organelles. Mutations in the gene coding for desmin (DES) cause skeletal myopath
Externí odkaz:
https://doaj.org/article/577b5d04d82646d3880d1430b946217f
Autor:
Jakub P, Fichna, Anna, Potulska-Chromik, Przemysław, Miszta, Maria Jolanta, Redowicz, Anna M, Kaminska, Cezary, Zekanowski, Sławomir, Filipek
Publikováno v:
BBA Clinical
Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibrils dissolution and abnormal accumulation of degradation products. So far causative mutations have been identified in nine genes encoding Z-disk proteins,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4eb0122dec20b0f90c7f204242a138f1
https://pubmed.ncbi.nlm.nih.gov/27904835
https://pubmed.ncbi.nlm.nih.gov/27904835