Rezultati - Klaus Rüether
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Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration od Dagmar Kasper, Rosa Planells‐Cases, Jens C. Fuhrmann, Olaf Scheel, Oliver Zeitz, Klaus Rüether, Anja Schmitt, Mallorie Poët, Robert Steinfeld, Michaela Schweizer, Uwe Kornak, Thomas J. Jentsch
Izdano 2005Artigo -
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Disruption of ClC-3, a Chloride Channel Expressed on Synaptic Vesicles, Leads to a Loss of the Hippocampus od Sandra M. Stobrawa, Tilman Breiderhoff, Shigeo Takamori, Dominique Engel, Michaela Schweizer, Anselm A. Zdebik, Michael R. Bösl, Klaus Rüether, Holger Jahn, Andreas Draguhn, Reinhard Jahn, Thomas J. Jentsch
Izdano 2001Artigo -
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Disruption of the 11-<i>cis</i>-Retinol Dehydrogenase Gene Leads to Accumulation of <i>cis</i>-Retinols and<i>cis</i>-Retinyl Esters od C.A.G.G. Driessen, H.J. Winkens, Kirstin Hoffmann, Leonoor D Kuhlmann, Bert P.M. Janssen, Anke H.M. van Vugt, J. Preston Van Hooser, Bé Wieringa, August F. Deutman, Krzysztof Palczewski, Klaus Rüether, J.J.M. Janssen
Izdano 2000Artigo -
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Large-Scale Phenotyping of an Accurate Genetic Mouse Model of JNCL Identifies Novel Early Pathology Outside the Central Nervous System od John F. Staropoli, Larissa A. Haliw, Sunita Biswas, Lillian Garrett, Sabine M. Hölter, Lore Becker, Sergej Skosyrski, Patricia da Silva‐Buttkus, Julia Calzada‐Wack, Frauke Neff, Birgit Rathkolb, Jan Rozman, Anja Schrewe, Thure Adler, Oliver Puk, Minxuan Sun, Jack Favor, Ildikó Rácz, Raffi Bekeredjian, Dirk H. Busch, Jochen Graw, Martin Klingenspor, Thomas Klopstock, Eckhard Wolf, Wolfgang Wurst, Andreas Zimmer, Edith Lopez, Hayat Harati, Eric Hill, Daniela S. Krause, Jolene R. Guide, Ella Dragileva, Evan Gale, Vanessa C. Wheeler, Rose‐Mary Boustany, Diane E. Brown, Sylvie Breton, Klaus Rüether, Valérie Gailus‐Durner, Helmut Fuchs, Martin Hrabě de Angelis, Susan L. Cotman
Izdano 2012Artigo -
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Functional Implications of the Spectrum of Mutations Found in 234 Cases With X-linked Juvenile Retinoschisis (XLRS) od J.T. Dendunnen, Thirsa Kraayenbrink, Mary van Schooneveld, Esther van de Vosse, Paulus T.V.M. de Jong, Jacoline B. ten Brink, E. J. M. Schuurman, Nel Tijmes, G.J.B. van Ommen, Arthur A. Bergen, Grazia Andolfi, Eugenio Montini, C Oudet, Hanno J. Bolz, Josseline Kaplan, Ulrike Orth, Andreas Gal, André Hanauer, A. M. Bardelli, Carmen Ayuso, Francisco J. Díaz, Pierre Bitoun, V. Ventruto, Andrea Ballabio, Brunella Franco, Kelaginamane T. Hiriyana, E.L. Bingham, Christina L. McHenry, H. Pawar, Caroline Coats, Thomas E. Darga, Julia E. Richards, Paul A. Sieving, Laura Huopaniemi, A Rantala, Thomas Rosenberg, Niklas Dahl, Alan F. Wright, A. dela Chapelle, Tiina Alitalo, Steffen Lenzner, H.G. Brunner, Susanne Feil, Beate Niesler, Uwe Schulz, A. Pinckers, A. Blankenagel, Klaus Rüether, Ulrich Kellner, Gudrun Rappold, Hans Hilger Ropers, Vera M. Kalscheuer, Wolfgang Berger, Dorothy Trump, Susannah M. Walpole, Anna Nicolaou, S.A. Gaythor, D. Pimenides, N D George, U. Moore, John R.W. Yates
Izdano 1998Artigo
Iskalna orodja:
Sorodne teme
Biology
Gene
Medicine
Biochemistry
Disease
Genetics
Retinal
Endocrinology
Internal medicine
Ophthalmology
Pathology
ABCA4
Cell biology
Chloride channel
Enzyme
Macular degeneration
Neuroscience
Phenotype
Autofluorescence
Biophysics
Chemistry
Chloroquine
Congenic
Coronavirus disease 2019 (COVID-19)
Dehydrogenase
Diabetes mellitus
Electrophysiology
Electroretinography
Excitatory postsynaptic potential
Exon