Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Karin Wiegers"'
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:
Susen Winkler, Ingrid Braenne, Robert A. Wilcox, Tim J. Anderson, Norbert Brüggemann, Lars Bertram, Katja Lohmann, Karin Wiegers
Publikováno v:
Journal of Neurology
Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal movements or postures. Several genetic causes of dystonia have been elucidated but genetic causes of dystonia specifically affecting femal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ce732d57991c1312dd806ea4fba4cab
https://hdl.handle.net/11858/00-001M-0000-0026-AACF-C11858/00-001M-0000-0026-AAD1-4
https://hdl.handle.net/11858/00-001M-0000-0026-AACF-C11858/00-001M-0000-0026-AAD1-4
Autor:
Karin Wiegers, J. Hagenah, Laurie J. Ozelius, Katja Hedrich, K. Mohrmann, Kıvılcım Gücüyener, E. Demir, Christine Klein, Eberhard Schwinger, K. Kabakci, Peter P. Pramstaller, Olfert Landt, S. Aysun
Publikováno v:
Neurology. 59:1783-1786
Most cases of dopa-responsive dystonia (DRD) are thought to be caused by mutations in the GCHI gene; however, by sequencing, mutations are found in only 40% to 60%. Recently, a single report identified, via Southern blot analysis, a large genomic GCH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::608340734c7b7619c421c77fbaec64c3
https://doi.org/10.1212/01.wnl.0000035629.04791.3f
https://doi.org/10.1212/01.wnl.0000035629.04791.3f
Autor:
Helfried Jacobs, Katja Hedrich, Kathrin Mohrmann, Eberhard Schwinger, Christine Klein, Xandra O. Breakefield, Martin Kann, Kirsten Schumacher, Jennifer Garrels, Peter Vieregge, Karin Wiegers, Laurie J. Ozelius, Peter P. Pramstaller
Publikováno v:
Annals of Neurology. 51:621-625
Early-onset parkinsonism is frequently reported in connection with mutations in the parkin gene. In this study, we present the results of extensive genetic screening for parkin mutations in 111 community-derived early-onset parkinsonism patients (age
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ab203af11c1dc61687a00a5caed04a1
https://doi.org/10.1002/ana.10179
https://doi.org/10.1002/ana.10179
Autor:
Jose Ignacio Martin Subero, Laurie J. Ozelius, Holger Tönnies, Christine Klein, Katja Lohmann, Deborah Raymond, Aleksandar Rakovic, Susan B. Bressman, Reiner Siebert, Rachel Saunders-Pullman, Eberhard Schwinger, Yorck Hellenbroich, Claire Redin, Michael E. Talkowski, Frauke Hinrichs, Karin Wiegers
Publikováno v:
JAMA Neurology. 74:806
Importance Chromosomal rearrangements are increasingly recognized to underlie neurologic disorders and are often accompanied by additional clinical signs beyond the gene-specific phenotypic spectrum. Objective To elucidate the causal genetic variant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed2c7986c507205daef893849fe89b76
https://doi.org/10.1001/jamaneurol.2017.0666
https://doi.org/10.1001/jamaneurol.2017.0666
Autor:
Anne Weißbach, Daniel Alvarez-Fischer, Aleksandar Rakovic, Alev Erogullari, Karin Wiegers, Arndt Rolfs, Frank J. Kaiser, Alexander Schmidt, Franca Vulinovic, Katja Lohmann, Christine Klein, Philipp Capetian, Philip Seibler, Andreas Ferbert
Publikováno v:
Human mutation. 35(9)
A three-nucleotide (GAG) deletion (ΔE) in TorsinA (TOR1A) has been identified as the most common cause of dominantly inherited early-onset torsion dystonia (DYT1). TOR1A encodes a chaperone-like AAA+-protein localized in the endoplasmic reticulum. C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e812f09171f8e58c19d49f4e333d683d
https://pubmed.ncbi.nlm.nih.gov/24931141
https://pubmed.ncbi.nlm.nih.gov/24931141
Autor:
Thora Lohnau, Andrea J. Lanthaler, Johann Hagenah, Christine Klein, Susen Winkler, Katja Lohmann, Ana Djarmati, Norbert Brüggemann, Heike Pawlack, Peter P. Pramstaller, Manfred Mitterer, Karin Wiegers
Publikováno v:
Parkinsonismrelated disorders. 15(6)
The role of single heterozygous mutations in the putatively recessive Parkin gene in Parkinson disease (PD) is a vividly debated issue, partly caused by the largely unknown frequency of these mutations in healthy individuals. We investigated mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab83faf0c255197a41d1f5e8f536610c
https://pubmed.ncbi.nlm.nih.gov/19162522
https://pubmed.ncbi.nlm.nih.gov/19162522
Autor:
Ana Djarmati, Katja Hedrich, Norman Kock, Birgitt Schüle, Peter P. Pramstaller, Cesa Scaglione, Olaf Riess, Paolo Martinelli, Peter Bauer, Roberta Marchese, Giovanni Abbruzzese, Anja Hiller, Robert Hering, Christine Klein, Thora Lohnau, Susen Winkler, Nora Schäfer, Karin Wiegers
Publikováno v:
European journal of human genetics : EJHG. 13(9)
Recessively inherited early-onset parkinsonism (EOP) has been associated with mutations in the Parkin, DJ-1, and PINK1 genes. We studied the prevalence of mutations in all three genes in 65 Italian patients (mean age of onset: 43.2+/-5.4 years, 62 sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28b320bd193c2627a2b0cd3fb73f908b
https://pubmed.ncbi.nlm.nih.gov/15970950
https://pubmed.ncbi.nlm.nih.gov/15970950
Autor:
Karin Wiegers, Johann Hagenah, Katja Hedrich, Laurie J. Ozelius, Rachel Saunders-Pullman, K. Kabakci, P. Vieregge, T. G. Nygaard, K. Habermann, Christine Klein, K. Mohrmann, Thora Lohnau, Deborah Raymond, Susan B. Bressman
Publikováno v:
Neurology. 64(5)
Mutations in GTP cyclohydrolase I (GCHI) are found in 50 to 60% of cases with dopa-responsive dystonia (DRD). Heterozygous GCHI exon deletions, undetectable by sequencing, have recently been described in three DRD families. We tested 23 individuals w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6404110f8f39591843861073b6c34f4
https://pubmed.ncbi.nlm.nih.gov/15753436
https://pubmed.ncbi.nlm.nih.gov/15753436
Autor:
A. J. Stoessl, Norman Kock, R. Dürr, Jennifer Garrels, Eberhard Schwinger, Birgitt Schüle, L. Liu, J. H. Koelman, B. Landwehrmeyer, P. de Carvalho Aguiar, Karin Wiegers, Christine Klein, Katja Hedrich, Laurie J. Ozelius, Marina A. J. Tijssen, E. M. Meyer
Publikováno v:
Neurology, 62(7), 1229-1231. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 62(7), 1229-1231. Lippincott Williams and Wilkins
Scopus-Elsevier
Neurology, 62(7), 1229-1231. Lippincott Williams and Wilkins
Scopus-Elsevier
Symptoms of myoclonus–dystonia (M-D; DYT11) affect mostly proximal muscles of the top half of the body, usually start during childhood or early adolescence, and are often responsive to alcohol.1 Psychiatric abnormalities such as depression have bee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2822a542a8f01e2e59d21c707eedf2ad
https://research.rug.nl/en/publications/147b30d6-3e6f-4eb9-818f-7e9e03b1de03
https://research.rug.nl/en/publications/147b30d6-3e6f-4eb9-818f-7e9e03b1de03