Výsledky vyhledávání - "Katja Hedrich"

Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification

Autor: Christine Klein, Anthony E. Lang, Angela M. Kaindl, Peter P. Pramstaller, Peter Vieregge, Katja Hedrich, Christian Beetz, David Simon, Anne Grünewald, Ana Djarmati, Miodrag Guzvic, Anders O H Nygren

Publikováno v: Movement Disorders

Because of the occurrence of different types of mutations, comprehensive genetic testing for Parkinsons disease (PD), dopa-responsive dystonia (DRD), and myoclonus-dystonia (M-D) should include screening for small sequence changes and for large exoni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::590736af2ea822c693e94bcb972481cb
https://doi.org/10.1002/mds.21370

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Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutations

Autor: Johann Hagenah, Ana Djarmati, Jessica Stahlberg, Birgit Völkel, Rebekka Lencer, Katja Hedrich, Susanne Steinlechner, Inke R. König, Christine Klein, Anja Hiller

Publikováno v: Journal of Neurology, Neurosurgery & Psychiatry. 78:532-535

Objective: To investigate a possible association of mutations in the PTEN-induced putative kinase 1 ( PINK1) gene with psychiatric disorders in a large family with monogenic parkinsonism. Method: 20 members of a family (4 homozygous, 11 heterozygous

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf9ee6600957d6a943e816d92e850433
https://doi.org/10.1136/jnnp.2006.105676

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Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations

Autor: Christine Klein, Katja Hedrich, Peter P. Pramstaller, Holger Rambold, A. Schwekendiek, Christoph Helmchen

Publikováno v: Journal of Neurology. 253:1071-1075

We investigated saccades, eyelid blinks, and their interaction in symptomatic (n = 22) and asymptomatic (n = 31) subjects with (n = 19) and without (n = 34) Parkin mutations. Saccadic hypometria was correlated with clinical symptoms of Parkinson's di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39aa7df75f8438d1688da546367e1af5
https://doi.org/10.1007/s00415-006-0168-1

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Co-occurrence of restless legs syndrome andParkin mutations in two families

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

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RecurrentLRRK2 (Park8) mutations in early-onset Parkinson's disease

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

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Motor reorganization in asymptomatic carriers of a single mutant Parkin allele: a human model for presymptomatic parkinsonism

Autor: Christian Büchel, Carsten Buhmann, Christine Klein, C. Erdmann, Peter P. Pramstaller, Günther Deuschl, J. Hagenah, T. van Eimeren, Ferdinand Binkofski, Hartwig R. Siebner, Katja Hedrich, Meike Kasten

Publikováno v: Brain. 128:2281-2290

Mutations in the Parkin gene are the most common known single cause of early-onset parkinsonism. It has been shown that asymptomatic carriers with a single mutant allele have latent presynaptic dopaminergic dysfunction in the striatum. Here we used f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595eeb9e3a7795a152c0edd4672b442f
https://doi.org/10.1093/brain/awh572

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Lewy body Parkinson's disease in a large pedigree with 77Parkin mutation carriers

Autor: Michael G. Schlossmacher, Katja Hedrich, Peter P. Pramstaller, Thomas S. Jacques, Patricia L. Kramer, Susanna Adel, Melissa Gonzales-McNeal, Christine Klein, Francesco Scaravilli, Imelda Pepivani, Cordula Eskelson, Rüdiger Hilker

Publikováno v: Annals of Neurology. 58:411-422

We report the clinical, genetic, and neuropathological findings of a seven generation-spanning pedigree with 196 individuals, 25 of whom had levodopa-responsive parkinsonism. Genetic analyses indicated Parkin mutations in 77 subjects. Among the 25 pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a4c468c3cbc3adc30cec1372d9e6656
https://doi.org/10.1002/ana.20587

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Genetic heterogeneity in ten families with myoclonus-dystonia

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

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Mutations in DYT1: Extension of the phenotypic and mutational spectrum

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

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Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia

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

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