Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Stephan Niemann"'
Autor:
John W.M. Martens, Ralf Lesche, John A. Foekens, Stephan Niemann, Achim Plum, Sabine Maier, Katrin Welzel, Florence Lerebours, Vincent Vuaroqueaux, Serenella Eppenberger-Castori, Manfred Schmitt, Anne Fassbender, Dimo Dietrich, Nadia Harbeck, Frédérique Spyratos, Oliver Hartmann
Supplementary Data from DNA Methylation Markers Predict Outcome in Node-Positive, Estrogen Receptor-Positive Breast Cancer with Adjuvant Anthracycline-Based Chemotherapy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7534fcc82e3902419c527b954ef8249
https://doi.org/10.1158/1078-0432.22439427
https://doi.org/10.1158/1078-0432.22439427
The 'CMT Rat': Peripheral Neuropathy and Dysmyelination Caused by Transgenic Overexpression of PMP22
Autor:
Ueli Suter, Moritz J. Rossner, Stephan Niemann, Hans-Michael Meinck, Helen Stewart, Klaus-Armin Nave, Michael W. Sereda, Ian R. Griffiths
Publikováno v:
Annals of the New York Academy of Sciences. 883(1)
We have generated a transgenic rat model of Charcot-Marie-Tooth disease type 1A (CMT1A) providing formal proof that this neuropathy can be caused by increased expression of peripheral myelin protein-22 (PMP22). Heterozygous PMP22-transgenic rats deve
Autor:
Stephan Niemann
Publikováno v:
Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6fb548168eb0f29a4891b90e79df8ffe
https://doi.org/10.1093/med/9780199934522.003.0038
https://doi.org/10.1093/med/9780199934522.003.0038
Autor:
Anne-Marie Wills, Ting-Jan Cho, Peter C. Sapp, John Landers, Diane McKenna-Yasek, Jonathan D. Glass, Lijia Shi, Ammar Al-Chalabi, Frank P. Diekstra, Christopher Shaw, Stephan Niemann, Meraida Polak, Ildefonso Rodriguez-Leyva, Bryan J. Traynor, P. Nigel Leigh, Robert H. Brown
Publikováno v:
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS) is a progressive, neurodegenerative disorder of upper and lower motor neurons. Genetic variants in the paraoxonase gene cluster have been associated with susceptibility to sporadic ALS. Because these studies have y
Autor:
Jeremy M. Shefner, Yasunori Hayashi, Michael Churchill, Roderick T. Bronson, Hiroaki Kanki, Robert H. Brown, Keizo Takao, Yasuyuki Fukui, Masahiro Fukaya, Tsuyoshi Miyakawa, Masahiko Watanabe, Shigeyoshi Itohara, Meri Hynynen, Stephan Niemann
Publikováno v:
European Journal of Neuroscience. 26:1407-1420
NR3B is a modulatory subunit of the NMDA receptor, abundantly expressed in both cranial and spinal somatic motoneurons and at lower levels in other regions of the brain as well. Recently, we found the human NR3B gene (GRIN3B) to be highly genetically
Publikováno v:
Muscle & Nerve. 36:704-707
We report a patient with autosomal-dominant amyotrophic lateral sclerosis (ALS) and a sequence variation in the SOD1 promoter region, located in the conserved TATA box motif (TATAAA→TGTAAA). Functional promoter studies of this variant in an in vitr
Publikováno v:
Familial Cancer. 4:9-12
Mutations in genes coding for three of the four components of mitochondrial complex II can cause paragangliomas (PGLs)/pheochromocytomas. The three genes include SDHB, -C, and -D. SDHC and SDHD anchor the catalytic subunits SDHA and -B of mitochondri
Publikováno v:
Proceedings of the National Academy of Sciences. 100:10347-10352
X-linked dystonia parkinsonism (XDP) is an X-linked recessive adult onset movement disorder characterized by both dystonia and parkinsonism. We report delineation of the disease gene within a 300-kb interval of Xq13.1 by allelic association. Sequenci
Autor:
Stephan Niemann, Burkhard Alber, Klaus Zang, Klaus Roemer, Thomas F. Meyer, Peter Heutink, Joern Dullinger, Johannes Prudlo, Hans-Hilger Ropers, Vera M. Kalscheuer, Thomas Martin, Albert C. Ludolph, Helmut Sittinger
Publikováno v:
Annals of Neurology. 55:134-138
A chromosomal translocation t(18;21)(q23;q22) is reported in a patient with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We exclude the physical involvement and silencing of the ALS-linked gene for copper/zinc superoxide dis
Publikováno v:
The Journal of Neuroscience. 20:4120-4128
We have generated previously transgenic rats that overexpress peripheral myelin protein 22 (PMP22) in Schwann cells. In the nerves of these animals, Schwann cells have segregated with axons to the normal 1:1 ratio but remain arrested at the promyelin