Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Karen Freimann"'
Autor:
Paul Matthew D. Pasco, Karen Freimann, Thomas G. P. M. Schmidt, Tian Liu, Aloysius Domingo, Frank J. Kaiser, Inga Vater, Dirk Dressler, Katja Lohmann, Eva Maria Cutiongco-de la Paz, Jeanette Erdmann, Raymond L. Rosales, Christine Klein, Roland Dominic G. Jamora, Lars Bertram, Ana Westenberger, Ingrid Braenne, Lillian V. Lee
Publikováno v:
European Journal of Human Genetics
X-linked recessive dystonia-parkinsonism is a rare movement disorder that is highly prevalent in Panay Island in the Philippines. Earlier studies identified seven different genetic alterations within a 427-kb disease locus on the X chromosome; howeve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c96608fd4f90b254811f1ad404f5c93a
https://doi.org/10.1038/ejhg.2014.292
https://doi.org/10.1038/ejhg.2014.292
Autor:
Meike Kasten, Matthias Endres, Björn Arns, Mario Drungowski, Karin Wiegers, Thomas Klopstock, Katja Lohmann, Sarah Doss, Alfredo Ramirez, Susen Winkler, Ebba Lohmann, Georg Bohner, Karen Freimann, Peter Nürnberg, Christine Zühlke, Christine Klein, Sadaf Naz, Philip Seibler, Thora Lohnau
Publikováno v:
Journal of neurology 261(1), 207-212 (2013). doi:10.1007/s00415-013-7177-7
DYTCA is a syndrome that is characterized by predominant dystonia and mild cerebellar ataxia. We examined two affected siblings with healthy, consanguineous, Turkish parents. Both patients presented with a combination of childhood-onset cerebellar at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d16c96e4d6f382ae83aa11c347122e5e
https://doi.org/10.1007/s00415-013-7177-7
https://doi.org/10.1007/s00415-013-7177-7
Autor:
Christine Klein, Ana Westenberger, Lillian V. Lee, Norbert Brüggemann, Aloysius Domingo, Raymond L. Rosales, Roland Dominic G. Jamora, Frank J. Kaiser, Karen Freimann
Publikováno v:
JAMA neurology. 71(9)
Importance Despite recessive inheritance, X-linked dystonia-parkinsonism (Lubag disease) has also been described in women presenting with a late-onset isolated parkinsonian syndrome. Interestingly, unlike in other populations, there is a slight femal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ea2defb2ccfdad94faa02a5532d2cc5
https://pubmed.ncbi.nlm.nih.gov/25004170
https://pubmed.ncbi.nlm.nih.gov/25004170
Autor:
Christine Klein, Meike Kasten, Vladimir S. Kostic, Thora Lohnau, Johann Hagenah, Raymond L. Rosales, Julia Graf, Norbert Brüggemann, Toshitaka Kawarai, Katja Lohmann, Ikuo Masuho, Youhei Mukai, Ana Westenberger, Ryuji Kaji, Aloysius Domingo, Alexander Schmidt, Lilian V. Lee, Alexander Münchau, Ryosuke Miyamoto, Karen Freimann, Carolyn M. Sue, Andreas Ferbert, Kishore R. Kumar, Kirill A. Martemyanov
Importance Mutations in the GNAL gene have recently been shown to cause primary torsion dystonia. The GNAL -encoded protein (Gα olf ) is important for dopamine D 1 receptor function and odorant signal transduction. We sequenced all 12 exons of GNAL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf05c933176afcf5d6b07f092cf7a277
https://europepmc.org/articles/PMC4237020/
https://europepmc.org/articles/PMC4237020/
Autor:
Katja Zschiedrich, Johann Hagenah, Heike Pawlack, Ana Westenberger, Karen Freimann, Anne Grünewald, Katja Lohmann, Norbert Brüggemann, Christine Klein
Publikováno v:
BASE-Bielefeld Academic Search Engine
Dysfunctional mitochondria and the mitochondrial chaperone mortalin (HSPA9, GRP75) have been implicated in the pathogenesis of Parkinson disease (PD). We screened 139 early-onset PD (EOPD) patients for mutations in mortalin revealing one missense cha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c55db0f6f9b66de2d16e51ef441650c1
https://pubmed.ncbi.nlm.nih.gov/23831374
https://pubmed.ncbi.nlm.nih.gov/23831374
Autor:
Ana, Westenberger, Raymond L, Rosales, Sascha, Heinitz, Karen, Freimann, Lilian V, Lee, Roland D, Jamora, Arlene R, Ng, Aloysius, Domingo, Katja, Lohmann, Uwe, Walter, Uta, Gölnitz, Arndt, Rolfs, Inga, Nagel, Gabriele, Gillessen-Kaesbach, Reiner, Siebert, Dirk, Dressler, Christine, Klein
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 28(5)
Recessive X-linked dystonia-parkinsonism almost exclusively affects men. We investigated the genetic mechanisms causing this disorder in a female patient.We confirmed the presence of an X-linked dystonia-parkinsonism-specific change in our patient by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ad2bfb86703e259bf8bfed76144f02c3
https://pubmed.ncbi.nlm.nih.gov/23389859
https://pubmed.ncbi.nlm.nih.gov/23389859