Zobrazeno 1 - 10
of 40
pro vyhledávání: '"K. Kabakci"'
Autor:
Katja Lohmann-Hedrich, Susan Winkler, Michael Orth, Alexander Münchau, Johann Hagenah, K. Kabakci, Anne Grünewald, Ana Djarmati, Christine Klein, Tobias Bäumer
Publikováno v:
Movement Disorders. 22:2090-2096
The objective of this study was to report clinical details and results of genetic testing for mutations in the e-sarcoglycan (SGCE) gene, the Slit and Trk-like 1 (SLITRK1) gene and for linkage to the DYT15, DYT1, and DRD2 gene loci in a family with a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2122f58805eb5c2168120bc10597fc6f
https://doi.org/10.1002/mds.21674
https://doi.org/10.1002/mds.21674
Autor:
Ana Djarmati, Irene Pichler, Johann Hagenah, K. Kabakci, Susanna Adel, Christine Klein, Patricia L. Kramer, Katja Hedrich, Peter P. Pramstaller, Cordula Eskelson, Thora Lohnau, Eberhard Schwinger, Norman Kock
Publikováno v:
Movement Disorders. 21:258-263
Recent studies have suggested an association between restless legs syndrome (RLS) and Parkinson's disease (PD). We present a large multigenerational family and a smaller family with RLS. A Parkin mutation was found in 10 of 20 patients from both fami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28c15ffc0db08e81c6f6d9cdc365c176
https://doi.org/10.1002/mds.20690
https://doi.org/10.1002/mds.20690
Autor:
Vladimir S. Kostic, Jens Volkmann, Peter Vieregge, Peter P. Pramstaller, Katja Hedrich, Meike Kasten, Johann Hagenah, Christine Klein, Eberhard Schwinger, K. Kabakci, Susen Winkler
Publikováno v:
Movement Disorders. 21:1506-1510
Mutations in LRRK2 (leucine-rich repeat kinase 2) have been associated with autosomal dominant Parkinson's disease (PD) and cluster in several 3' exons of the gene. The majority of mutations have been detected in late-onset cases (age at onset >50 ye
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c21268cce8b8bbc42f84b47bf304a35
https://doi.org/10.1002/mds.20990
https://doi.org/10.1002/mds.20990
Autor:
Gunnar Eismann, Christine Klein, Jenny Grimm, Verena Geithe, Meike Kasten, Rebekka Lencer, K. Kabakci
Publikováno v:
British Journal of Psychiatry. 185:465-471
BackgroundA genetic susceptibility to extrapyramidal symptoms caused by treatment with neuroleptic medication has been suggested.AimsTo identify predictor variables for neuroleptic-induced extrapyramidal symptoms, particularly considering family hist
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc923ab03da7474917def00421c793f2
https://doi.org/10.1192/bjp.185.6.465
https://doi.org/10.1192/bjp.185.6.465
Autor:
Christine Klein, L. Liu, Katja Hedrich, Marina Svetel, K. Kabakci, Birgitt Schüle, Norman Kock, I.I. Berisavac, Nataša Dragašević, Laurie J. Ozelius, P. de Carvalho Aguiar, Jennifer Garrels, E. M. Meyer, Vladimir S. Kostic, Eberhard Schwinger, Patricia L. Kramer
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 75:1181-1185
Myoclonus-dystonia (M-D) is a movement disorder with autosomal dominant inheritance and reduced penetrance but may also occur sporadically. Recently, mutations in the epsilon-sarcoglycan gene (SGCE) were shown to cause M-D. Furthermore, single varian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5680fa49d3fccfe088031b4bd90abb9
https://doi.org/10.1136/jnnp.2003.027177
https://doi.org/10.1136/jnnp.2003.027177
Autor:
Katja Hedrich, Rebekka Lencer, Susan B. Bressman, Xandra O. Breakefield, Joseph H. Friedman, Christine Klein, Peter P. Pramstaller, Marina Svetel, Jennifer Garrels, Vladimir S. Kostic, Karsten Witt, J. Hagenah, P. Vieregge, F Klostermann, Joanne Chung On Leung, K. Kabakci, Manfred Mitterer, Laurie J. Ozelius
Publikováno v:
Neurology. 62:395-400
Background: Most cases of early-onset primary torsion dystonia (PTD) are caused by the same three–base pair (bp) (GAG) deletion in the DYT1 gene. Exon rearrangements are a common mutation type in other genes and have not yet been tested for in DYT1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23dd8ed9bd758026df9ae6cdd4746d0a
https://doi.org/10.1212/01.wnl.0000113024.84178.f7
https://doi.org/10.1212/01.wnl.0000113024.84178.f7
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:
K. Schilling, K. Isbruch, M. H. R. M. Schwarz, Katja Hedrich, K. Kabakci, Christine Klein, Patricia L. Kramer, Laurie J. Ozelius, P. de Carvalho Aguiar
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 76:860-862
Rapid onset dystonia-parkinsonism (RDP) is a rare movement disorder with autosomal dominant inheritance, characterised by sudden onset of dystonic spasms and slowness of movement. To date, three families have been described that share linkage to the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10402cd06186438104e800fd1c198117
https://doi.org/10.1136/jnnp.2004.046730
https://doi.org/10.1136/jnnp.2004.046730
Autor:
Aleksandar J. Ristić, Birgitt Schüle, Igor Petrović, Vladimir S. Kostic, Ana Djarmati, Christine Klein, K. Kabakci, Stanka Romac, Norman Kock, Marina Svetel
Publikováno v:
Journal of the neurological sciences. 250(1-2)
Most cases of early-onset primary torsion dystonia are caused by the same 3-bp (GAG) deletion in the DYT1 gene. We describe a large Serbian family with significant intrafamilial variability of the DYT1 phenotype, from asymptomatic carrier status to l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae6345f18068c16570243d347e482eda
https://pubmed.ncbi.nlm.nih.gov/17027035
https://pubmed.ncbi.nlm.nih.gov/17027035
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.