Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Sandy Siegert"'
Autor:
Roxanne Lofredi, Wolf-Julian Neumann, Antje Bock, Andreas Horn, Julius Huebl, Sandy Siegert, Gerd-Helge Schneider, Joachim K Krauss, Andrea A Kühn
Publikováno v:
eLife, Vol 7 (2018)
Gamma synchronization increases during movement and scales with kinematic parameters. Here, disease-specific characteristics of this synchronization and the dopamine-dependence of its scaling in Parkinson’s disease are investigated. In 16 patients
Externí odkaz:
https://doaj.org/article/9d5e8b277bcd4ed299073f8670105b37
Autor:
Konrad Oexle, Michael Zech, Lara Stühn, Sandy Siegert, Theresa Brunet, Wolfgang Schmidt, Matias Wagner, Axel Schmidt, Erik Tilch, Olivier Monestier, Anne Destrée, Britta Hanker, Sylvia Boesch, Robert Jech, Riccardo Berutti, Frank Kaiser, Bernhard Haslinger, Tobias Haack, Barbara Garavaglia, Peter Krawitz, Juliane Winkelmann, Nazanin Mirza-Schreiber
Background: DNA methylation classifiers (“episignatures”) help to determine the pathogenicity of variants of uncertain significance (VUS). However, their sensitivity is limited due to their training on unambiguous cases with strong-effect variant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::40feec93f2ca91612b1d6b92f376cd74
https://doi.org/10.21203/rs.3.rs-2530607/v1
https://doi.org/10.21203/rs.3.rs-2530607/v1
Publikováno v:
Movement Disorders. 37:1774-1776
Autor:
Markus Breu, Christian Lechner, Lisa Schneider, Selma Tobudic, Stefan Winkler, Sandy Siegert, Matthias Baumann, Rainer Seidl, Thomas Berger, Barbara Kornek
Publikováno v:
SSRN Electronic Journal.
Autor:
Janina Patsch, Andreas Kranzl, Julia Vodopiutz, Markus Ritter, Christof Brücke, Sandy Siegert, Gabriel T. Mindler, Andreas R. Janecke
Publikováno v:
Genes
Genes, Vol 12, Iss 1648, p 1648 (2021)
Volume 12
Issue 11
Genes, Vol 12, Iss 1648, p 1648 (2021)
Volume 12
Issue 11
Biallelic truncating FAM149B1 variants result in cilia dysfunction and have been reported in four infants with Joubert syndrome and orofaciodigital syndrome type VI, respectively. We report here on three adult siblings, 18 to 40 years of age, homozyg
Publikováno v:
RöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren.
Publikováno v:
European journal of pediatrics. 181(3)
In the last decade, health-related quality of life (HrQoL) has become an increasingly important outcome parameter in children and adolescents with chronic health conditions; among them are pediatric patients with inborn metabolic diseases (IMDs). Hen
Autor:
Reginald E. Bittner, Sonja Gobara, Wolfgang M. Schmidt, Sandy Siegert, Michael Freilinger, Thomas Pletschko
Publikováno v:
Neuropediatrics. 52(5)
Background Recent research suggested an hippocalcin (HPCA)-related form of DYT2-like autosomal recessive dystonia. Two reports highlight a broad spectrum of the clinical phenotype. Here, we describe a novel HPCA gene variant in a pediatric patient an
Autor:
Roxanne Lofredi, Wolf-Julian Neumann, Antje Bock, Andreas Horn, Julius Huebl, Sandy Siegert, Gerd-Helge Schneider, Joachim K Krauss, Andrea A Kühn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cd6a29302e311a0fc998d7b89f710da6
https://doi.org/10.7554/elife.31895.019
https://doi.org/10.7554/elife.31895.019
Publikováno v:
The Israel Medical Association journal : IMAJ. 13(3)