Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ute, Wahlländer"'
Autor:
Nikolai H. Jung, Silvia Egert-Schwender, Beate Schossow, Victoria Kehl, Ute Wahlländer, Louisa Brich, Viktoria Janke, Christiane Blankenstein, Martin Zenker, Volker Mall
Publikováno v:
Trials, Vol 24, Iss 1, Pp 1-10 (2023)
Abstract Background Cognitive impairment is a common medical issue in rat sarcoma (RAS) pathway disorders, so-called RASopathies, like Neurofibromatosis type 1 (NF1) or Noonan syndrome (NS). It is presumed to be caused by impaired synaptic plasticity
Externí odkaz:
https://doaj.org/article/362ee27951db413db44a603dd464d8cc
Publikováno v:
Genes, Vol 12, Iss 1639, p 1639 (2021)
Patients with neurofibromatosis type 1 (NF1) and type 1 NF1 deletions often exhibit more severe clinical manifestations than patients with intragenic NF1 gene mutations, including facial dysmorphic features, overgrowth, severe global developmental de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37bf30243958ba0bcf75c1c0659d1e63
https://orca.cardiff.ac.uk/id/eprint/146891/7/genes-12-01639-v3.pdf
https://orca.cardiff.ac.uk/id/eprint/146891/7/genes-12-01639-v3.pdf
Publikováno v:
Genes
Patients with neurofibromatosis type 1 (NF1) and type 1 NF1 deletions often exhibit more severe clinical manifestations than patients with intragenic NF1 gene mutations, including facial dysmorphic features, overgrowth, severe global developmental de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::babf5139ceacdcc5d01a3311670369d9
https://pubmed.ncbi.nlm.nih.gov/34681033
https://pubmed.ncbi.nlm.nih.gov/34681033
Autor:
Volker Mall, Victor-Felix Mautner, Tobias Winkler, L Freudenberg, F Mainberger, Steffen Berweck, Florian Heinen, Karen Lidzba, Nikolai H. Jung, Susanne Langer, Ute Wahlländer, Sofia Granström, Andreas Straube, Martin Zenker
Publikováno v:
BMC Neurology
Background Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders causing learning disabilities by mutations in the neurofibromin gene, an important inhibitor of the RAS pathway. In a mouse model of NF1, a loss of function mutatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29f99c31c2601cca0ea43c4f8aac7261
http://europepmc.org/articles/PMC4015838
http://europepmc.org/articles/PMC4015838