Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Bořivoj Petrák"'
Autor:
Franz Huschner, Jagoda Głowacka-Walas, James D. Mills, Katarzyna Klonowska, Kathryn Lasseter, John M. Asara, Romina Moavero, Christoph Hertzberg, Bernhard Weschke, Kate Riney, Martha Feucht, Theresa Scholl, Pavel Krsek, Rima Nabbout, Anna C. Jansen, Bořivoj Petrák, Jackelien van Scheppingen, Josef Zamecnik, Anand Iyer, Jasper J. Anink, Angelika Mühlebner, Caroline Mijnsbergen, Lieven Lagae, Paolo Curatolo, Julita Borkowska, Krzysztof Sadowski, Dorota Domańska-Pakieła, Magdalena Blazejczyk, Floor E. Jansen, Stef Janson, Malgorzata Urbanska, Aleksandra Tempes, Bart Janssen, Kamil Sijko, Konrad Wojdan, Sergiusz Jozwiak, Katarzyna Kotulska, Karola Lehmann, Eleonora Aronica, Jacek Jaworski, David J. Kwiatkowski
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-15 (2023)
Abstract We present a comprehensive multi-omic analysis of the EPISTOP prospective clinical trial of early intervention with vigabatrin for pre-symptomatic epilepsy treatment in Tuberous Sclerosis Complex (TSC), in which 93 infants with TSC were foll
Externí odkaz:
https://doaj.org/article/4ebd3a42e79a421f9ec149801b6df580
Autor:
Bořivoj Petrák
Publikováno v:
Pediatrie pro praxi. 24:87-92
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b460a24da6742cbee5daa3151c6f46e9
https://doi.org/10.36290/ped.2023.027
https://doi.org/10.36290/ped.2023.027
Publikováno v:
Česká a slovenská neurologie a neurochirurgie.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1958361dd1e317193a2c705fef68ec4c
https://doi.org/10.48095/cccsnn2021211
https://doi.org/10.48095/cccsnn2021211
Autor:
Bořivoj Petrák, Marie Glombová
Publikováno v:
Neurologie pro praxi. 19:104-107
Neurokutanni onemocněni je skupina vrozených, genetiky podminěných, multisystemových chorob, ktere postihuji předevsim kůži a nervový system, ale take dalsi systemy organizmu. Vznikaji při chybnem vývoji neuralni listy a postiženi neuroek
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::65ce1647a72ccdb6f68048b88db9e7b6
https://doi.org/10.36290/neu.2018.086
https://doi.org/10.36290/neu.2018.086
Autor:
Bořivoj, Petrák, Šárka, Bendová, Jiří, Lisý, Josef, Kraus, Tomáš, Zatrapa, Marie, Glombová, Josef, Zámečník
Publikováno v:
Ceskoslovenska patologie. 51(1)
Neurofibromatosis von Recklinghausen type 1 (NF1) is a multisystem, autosomal dominant hereditary neurocutaneous disease characterized by skin, central and peripheral nervous system , eyes , bone, endocrine, gastrointestinal and blood vessel wall inv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::75534ffa3236db86f600d90df1117635
https://pubmed.ncbi.nlm.nih.gov/25671360
https://pubmed.ncbi.nlm.nih.gov/25671360
Autor:
Mirte Scheper, Alessia Romagnolo, Zein Mersini Besharat, Anand M. Iyer, Romina Moavero, Christoph Hertzberg, Bernhard Weschke, Kate Riney, Martha Feucht, Theresa Scholl, Borivoj Petrak, Alice Maulisova, Rima Nabbout, Anna C. Jansen, Floor E. Jansen, Lieven Lagae, Malgorzata Urbanska, Elisabetta Ferretti, Aleksandra Tempes, Magdalena Blazejczyk, Jacek Jaworski, David J. Kwiatkowski, Sergiusz Jozwiak, Katarzyna Kotulska, Krzysztof Sadowski, Julita Borkowska, Paolo Curatolo, James D. Mills, Eleonora Aronica, EPISTOP Consortium Members
Publikováno v:
Biomedicines, Vol 10, Iss 8, p 1838 (2022)
Tuberous sclerosis complex (TSC) is a rare multi-system genetic disorder characterized by a high incidence of epilepsy and neuropsychiatric manifestations known as tuberous-sclerosis-associated neuropsychiatric disorders (TANDs), including autism spe
Externí odkaz:
https://doaj.org/article/f771935c50eb4ff39dc3c5c38aa4acd0