Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Claudia Funke"'
Publikováno v:
Journal of Movement Disorders, Vol 14, Iss 1, Pp 70-74 (2021)
The genetic testing of hereditary ataxias includes screening for CAG-repeat expansions as well as pathogenic variants and nontranslated oligonucleotide expansion, which can cause spinocerebellar ataxia (SCA). Genotype-phenotype correlations of severa
Externí odkaz:
https://doaj.org/article/935e0eb66fa24a439e9cb4ba539d2256
Autor:
Caroline Gertrud Bergner, Christiane Michaela Neuhofer, Claudia Funke, Saskia Biskup, Philipp von Gottberg, Claudia Bartels, Jan Christoph Koch, Katrin Radenbach
Publikováno v:
Frontiers in Neuroscience, Vol 14 (2020)
BackgroundModern genetics have in many ways revolutionized clinical routine and have, for instance, shown that formerly distinct disease entities relate to common pathogenic mutations. One such example is the connection between dementia and amyotroph
Externí odkaz:
https://doaj.org/article/f64272f638b34bf59a29f18efb75aca2
Autor:
Tina Harmuth, Caroline Prell-Schicker, Jonasz J. Weber, Frank Gellerich, Claudia Funke, Stefan Drießen, Janine C. D. Magg, Guido Krebiehl, Hartwig Wolburg, Stefanie N. Hayer, Stefan Hauser, Rejko Krüger, Ludger Schöls, Olaf Riess, Jeannette Hübener-Schmid
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 11 (2018)
Alterations in mitochondrial morphology and function have been linked to neurodegenerative diseases, including Parkinson disease, Alzheimer disease and Huntington disease. Metabolic defects, resulting from dysfunctional mitochondria, have been report
Externí odkaz:
https://doaj.org/article/8891dd0b150d49d29eda7cba9531ee6b
Autor:
Andreas Hermann, Hagen H. Kitzler, Tobias Pollack, Saskia Biskup, Stefanie Krüger, Claudia Funke, Caterina Terille, Tobias B. Haack
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 7 (2017)
Background: Static encephalopathy of childhood with neurodegeneration in adulthood is a phenotypically distinctive, X-linked dominant subtype of neurodegeneration with brain iron accumulation (NBIA). WDR45 mutations were recently identified as causal
Externí odkaz:
https://doaj.org/article/c5f10d7cf4a24ab2880f6efcefb16d82
Autor:
Matthias Zschornak, Tilmann Leisegang, Falk Meutzner, Hartmut Stöcker, Theresa Lemser, Tobias Tauscher, Claudia Funke, Charaf Cherkouk, Dirk C. Meyer
Publikováno v:
Symmetry, Vol 10, Iss 6, p 228 (2018)
The formation of crystals and symmetry on the atomic scale has persistently attracted scientists through the ages. The structure itself and its subtle dependence on boundary conditions is a reflection of three principles: atomic attraction, repulsion
Externí odkaz:
https://doaj.org/article/9788540483bc4d8280b5f34bfde87866
Publikováno v:
Journal of Movement Disorders
The genetic testing of hereditary ataxias includes screening for CAG-repeat expansions as well as pathogenic variants and nontranslated oligonucleotide expansion, which can cause spinocerebellar ataxia (SCA). Genotype-phenotype correlations of severa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94ab27aca86907a0707e851f501e9ec6
http://europepmc.org/articles/PMC7840235
http://europepmc.org/articles/PMC7840235
Autor:
Linda Behrisch, Floris Biskamp, Corinna Egdorf, Nello Fragner, Claudia Funke, Houssam Hamade, Sarah Fartuun Heinze, Tim Kegler, Timo Klattenhoff, David Lanius, Carrie McILwain, Johanna Montanari, Tine Mothes, Viola Nordsieck, Paula-Irene Villa, Anika Weinsdörfer
Der Band setzt sich kritisch mit dem Leben im Neoliberalismus auseinander, das eine spezifische Form des prekären Daseins hervorbringt. Ziel der Autor•innen ist es, diese zeitgenössischen Erfahrungen von Prekarität zu schildern und nachzuvollzie
Autor:
Thomas Köhler, Juliane Hanzig, Victor Koroteev, Anastasia Vyalikh, Tatiana Zakharchenko, Daniil M. Itkis, Andraž Krajnc, Gregor Mali, Lyubov G. Bulusheva, Alexander V. Okotrub, Lada V. Yashina, Juan J. Velasco-Velez, Dmitry Yu. Usachov, Denis V. Vyalikh, Hartmut Stöcker, Mikhail V. Avdeev, Ivan A. Bobrikov, Viktor I. Petrenko, Claudia Funke, Venkata Sai Kiran Chakravadhanula, Max Stöber, Jens Zosel, Charaf Cherkouk, Wolfram Münchgesang, Ulrike Langklotz, Erik Berendes, Sebastian Socher, Ulrich Potthoff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4b8581283195a91907fd841c9fc39d7b
https://doi.org/10.1515/9783110493986-005
https://doi.org/10.1515/9783110493986-005
Publikováno v:
Physical Sciences Reviews. 4
Development of highly efficient batteries with more rational understanding and precise control of the underlying microstructural features requires high resolution based characterization tools. Electron microscopy and spectroscopy offers information a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b716065333ad29b1dcd7980d8ca51618
https://doi.org/10.1515/psr-2017-0153
https://doi.org/10.1515/psr-2017-0153
Autor:
Celina von Stülpnagel, Jerome Jüngling, Yvonne G. Weber, Konstanze Hörtnagel, Gerhard Kluger, Caroline Haberl, Claudia Funke, Martin Staudt
Publikováno v:
Neuropediatrics. 46:287-291
Background SYNGAP1, which encodes a RAS-GTPase-activating protein, is located on the short arm of chromosome 6. Heterozygous SYNGAP1 gene mutations have been associated with autism spectrum disorders, delay of psychomotor development, acquired microc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::600225461b7d6aab3d70c1d39ac8810e
https://doi.org/10.1055/s-0035-1554098
https://doi.org/10.1055/s-0035-1554098