Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Birgitt Müller"'
Autor:
Mitchell F. Brin, Jeremy M. Silverman, Deborah Raymond, L. Liu, Susan B. Bressman, Laurie J. Ozelius, Christopher J. Smith, Ben Schmand, S. Abbasi, Christine Klein, Birgitt Müller, Patricia L. Kramer, Karla Schilling, Rachel Saunders-Pullman, Marina A. J. Tijssen, Chris Morrison, Dana Doheny, Jennifer Garrels, Ruth H. Walker, P. de Carvalho Aguiar, Deborah de Leon
Publikováno v:
Neurology. 59:1187-1196
Background: Myoclonus-dystonia (M-D) is a movement disorder with involuntary jerks and dystonic contractions. Autosomal dominant alcohol-responsive M-D is associated with mutations in the e-sarcoglycan gene ( SGCE ) (six families) and with a missense
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b935b2c028804104febabd5ed6adbcb
https://doi.org/10.1212/wnl.59.8.1187
https://doi.org/10.1212/wnl.59.8.1187
Autor:
Miodrag Velickovic, Mitchell F. Brin, Laurie J. Ozelius, Joanne Leung, Susan B. Bressman, Ruth H. Walker, L. Liu, Deborah de Leon, Patricia de Carvalho Aguiar, Chris Morrison, Fabio Danisi, Dana Doheny, Norman Kock, Birgitt Müller, Patricia L. Kramer, Jeremy M. Silverman, Christopher M. Smith, Eberhard Schwinger, Xandra O. Breakefield, Christine Klein
Publikováno v:
Annals of Neurology. 52:675-679
Myoclonus-dystonia is a movement disorder associated with mutations in the epsilon-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families. In both of the latter families, we also found a mutation of SGCE. The m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1e8750f3a0e311d8e0ba33d59c2b8cb1
https://doi.org/10.1002/ana.10358
https://doi.org/10.1002/ana.10358
Publikováno v:
European Journal of Neuroscience. 13:1093-1100
Norepinephrine (NE) has various modulatory roles in both the peripheral and the central nervous systems. Here we investigate the function of the locus coeruleus efferent fibres in the olfactory bulb of Xenopus laevis tadpoles. In order to distinguish
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::52180ba7f2927bdbcaf1c75ed9adfadc
https://doi.org/10.1046/j.0953-816x.2001.01479.x
https://doi.org/10.1046/j.0953-816x.2001.01479.x
Autor:
L. Liu, Karla Schilling, Jennifer Garrels, Birgitt Müller, Patricia L. Kramer, Elisabeth M. J. Foncke, A. de Froe, P. de Carvalho Aguiar, Johannes H. T. M. Koelman, Marina A. J. Tijssen, Laurie J. Ozelius, Christine Klein, Johannes D. Speelman
Publikováno v:
Neurology, 60(12), 1988-1990. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 60(12), 1988-1990. Lippincott Williams and Wilkins
Neurology, 60(12), 1988-1990. Lippincott Williams and Wilkins
A five-generation Dutch family with inherited myoclonus-dystonia (M-D) is described. Genetic analysis revealed a novel truncating mutation within the epsilon-sarcoglycan gene (SGCE). In three of five gene carriers, epilepsy and/or EEG abnormalities w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::421ee62431880c02e14cbfdb1b7449c1
https://doi.org/10.1212/01.wnl.0000066020.99191.76
https://doi.org/10.1212/01.wnl.0000066020.99191.76
Autor:
M.F. Nitschke, Laurie J. Ozelius, Birgitt Müller, Wolf Reik, Peter P. Pramstaller, Katja Hedrich, Jennifer Garrels, Olfert Landt, Jürgen Sperner, Eberhard Schwinger, Vladimir S. Kostic, Christine Klein, Nataša Dragašević, Norman Kock, Marina Svetel
Myoclonus-dystonia (M-D) is a movement disorder characterized by rapid muscle contractions and sustained twisting and repetitive movements and has recently been associated with mutations in the epsilon-sarcoglycan gene (SGCE). The mode of inheritance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::716affdba43e53af55da72afed0dec24
https://europepmc.org/articles/PMC378568/
https://europepmc.org/articles/PMC378568/
Autor:
Christine, Klein, Liu, Liu, Dana, Doheny, Norman, Kock, Birgitt, Müller, Patricia, de Carvalho Aguiar, Joanne, Leung, Deborah, de Leon, Susan B, Bressman, Jeremy, Silverman, Christopher, Smith, Fabio, Danisi, Chris, Morrison, Ruth H, Walker, Miodrag, Velickovic, Eberhard, Schwinger, Patricia L, Kramer, Xandra O, Breakefield, Mitchell F, Brin, Laurie J, Ozelius
Publikováno v:
Annals of neurology. 52(5)
Myoclonus-dystonia is a movement disorder associated with mutations in the epsilon-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families. In both of the latter families, we also found a mutation of SGCE. The m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2e406fe3e74d6e0ed632216e0d008cf7
https://pubmed.ncbi.nlm.nih.gov/12402271
https://pubmed.ncbi.nlm.nih.gov/12402271
Autor:
Xandra O. Breakefield, Sarah J. Augood, Birgitt Müller, Lichuan Yang, Zane R. Hollingsworth, David S. Albers, David G. Standaert, Christine Klein, J-C Leung
Publikováno v:
Neurology. 59(3)
Indices of dopamine transmission were measured in the postmortem striatum of DYT1 dystonia brains. A significant increase in the striatal 3,4-dihydroxyphenylacetic acid/dopamine ratio was found. Quantitative autoradiography revealed no differences in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c06594317ea349bc1b3d35e7e16a8dce
https://pubmed.ncbi.nlm.nih.gov/12177384
https://pubmed.ncbi.nlm.nih.gov/12177384
Autor:
Helen Meija-Santana, Christine Klein, Helfried Jacobs, Norman Kock, Ulrike Gehlken, Peter P. Pramstaller, Karen Marder, Juliette Harris, Katja Hedrich, Eberhard Schwinger, Peter Vieregge, Paolo Martinelli, Birgitt Müller, Zbigniew K. Wszolek, Biljana Culjkovic, Stanley Fahn, Christine Zühlke, Anthony E. Lang, Martin Kann, Johann Hagenah, Giovanni Abbruzzese
Publikováno v:
Annals of Neurology. 52:257-258
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::05b07531d2779ad3887a0c1a3967ca7e
https://doi.org/10.1002/ana.10270
https://doi.org/10.1002/ana.10270
Autor:
Laurie J. Ozelius, Birgitt Müller, Patricia L. Kramer, Susanna Maniak, Karla Schilling, Peter P. Pramstaller, Biljana Culjkovic, Christine Zühlke, Norman Kock, Christine Klein
Publikováno v:
The American Journal of Human Genetics. (1):205-208
To the Editor: We read with interest the report by Desautels et al. (2001), who have described a susceptibility locus for restless legs syndrome (RLS), on chromosome 12q, in a family with putative autosomal recessive inheritance of RLS. RLS is a move
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80169911bde5e454ee69a3306aaa87d5
Publikováno v:
Scopus-Elsevier
We report on the development of a slice culture of amphibian brain tissue. In particular, we cultured slices from Xenopus laevis tadpoles that contain the olfactory mucosae, the olfactory nerves, the olfactory bulb and the telencephalon. During 6 day
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::168bed5b7e6e045368ed73bad9691723
http://www.scopus.com/inward/record.url?eid=2-s2.0-0035017696&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0035017696&partnerID=MN8TOARS