检索结果 - Katrin Bürk
- Showing 1 - 17 results of 17
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KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients 由 Karla P. Figueroa, Natali A. Minassian, Giovanni Stévanin, Michael D. Waters, Vartan Garibyan, Sylvie Forlani, Adam Strzelczyk, Katrin Bürk, Alexis Brice, Alexandra Dürr, Diane M. Papazian, Stefan M. Pulst
出版 2009Artigo -
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The natural history of degenerative ataxia: a retrospective study in 466 patients 由 Thomas Klockgether, Rainer Lüdtke, B. Krämer, Michael Abele, Katrin Bürk, Lüdger Schöls, Olaf Rieß, Franco Laccone, Sylvia Boesch, Íscia Lopes‐Cendes, Alexis Brice, Rivka Inzelberg, Nelly Zilber, J. Dichgans
出版 1998Artigo -
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Spinocerebellar ataxia type 1 (SCA1): new pathoanatomical and clinico‐pathological insights 由 Udo Rüb, Katrin Bürk, Dagmar Timmann, Wilfred F.A. den Dunnen, Kay Seidel, Karima Farrag, E. R. Brunt, Helmut Heinsen, Rupert Egensperger, A. Bornemann, Stephan W. Schwarzacher, Horst‐Werner Korf, Lüdger Schöls, J. Böhl, Thomas Deller
出版 2012Artigo -
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Onset features and time to diagnosis in Friedreich’s Ataxia 由 Elisabetta Indelicato, Wolfgang Nachbauer, Andreas Eigentler, Matthias Amprosi, Raffaella Matteucci Gothe, Paola Giunti, Caterina Mariotti, Javier Arpa, Alexandra Dürr, Thomas Klopstock, Lüdger Schöls, Ilaria Giordano, Katrin Bürk, Massimo Pandolfo, Claire Didszdun, Jörg B. Schulz, Sylvia Boesch
出版 2020Artigo -
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Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families 由 Géraldine Cancel‐Tassin, Alexandra Dürr, Olivier Didierjean, G. Imbert, Katrin Bürk, Agnès Lézin, Samir Belal, Ali Benomar, M. Abada-Bendib, Christophe Vial, J. Guimarães, Hervé Chneiweiss, Giovanni Stévanin, Gaël Yvert, N. Abbas, Frédéric Saudou, Anne Sophie Lebre, M. Yahyaoui, Fayçal Hentati, J C Vernant, Thomas Klockgether, Jean‐Louis Mandel, Y. Agid, Alexis Brice
出版 1997Artigo -
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Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study 由 Heike Jacobi, Sophie Tézenas du Montcel, Sandro Romanzetti, Florian Harmuth, Caterina Mariotti, Lorenzo Nanetti, Maria Rakowicz, Grzegorz Makowicz, Alexandra Dürr, Marie-Lorraine Monin, Alessandro Filla, Alessandro Roca, Lüdger Schöls, Holger Hengel, Jon Infante, Jun-Suk Kang, Dagmar Timmann, Carlo Casali, Marcella Masciullo, László Balikó, Béla Melegh, Wolfgang Nachbauer, Katrin Bürk-Gergs, Jörg B. Schulz, Olaf Rieß, Kathrin Reetz, Thomas Klockgether
出版 2020Artigo -
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The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group 由 Christoph Kamm, D G Healy, N Quinn, Ullrich Wüllner, J. Carsten Möller, Lüdger Schöls, Felix Geser, Katrin Bürk, Anders D. Børglum, Maria Teresa Pellecchia, Eduardo Tolosa, Francesca Del Sorbo, Christer Nilsson, Oliver Bandmann, Manu Sharma, Petra Mayer, Maria Gasteiger, A. Haworth, Tetsutaro Ozawa, Andrew J. Lees, Joan K. Short, Paola Giunti, Elke Holinski‐Feder, Thomas Illig, H.‐Erich Wichmann, Gregor K. Wenning, Nicholas Wood, Thomas Gasser
出版 2005Artigo -
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Nonataxia symptoms in Friedreich Ataxia 由 Kathrin Reetz, Imis Dogan, Christian Hohenfeld, Claire Didszun, Paola Giunti, Caterina Mariotti, Alexandra Dürr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodríguez de Rivera Garrido, Lüdger Schöls, Ilaria Giordano, Katrin Bürk, Massimo Pandolfo, Jörg B. Schulz, Wolfgang Nachbauer, Andreas Eigentler, Chantal Depondt, Sandra Benaich, Perrine Charles, Claire Ewenczyk, Marie‐Lorraine Monin, Kathrin Fedosov, Manuel Dafotakis, Thomas Klockgether, Dagmar Timmann, Ivan Karin, Christiane Neuhofer, Claudia Stendel, Jennifer Müller vom Hagen, Julia Wolf, Lidia Sarro, Lorenzo Nanetti, Anna Castaldo, Javier Arpa, Irene Sanz‐Gallego, Michael Parkinson, Mary G. Sweeney
出版 2018Artigo -
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Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study 由 Kathrin Reetz, Imis Dogan, R.-D Hilgers, Paola Giunti, Caterina Mariotti, Alexandra Dürr, Sylvia Boesch, Thomas Klopstock, Francisco Javier Rodríguez de Rivera Garrido, Lüdger Schöls, Thomas Klockgether, Katrin Bürk, Myriam Rai, Massimo Pandolfo, Jörg B. Schulz, Wolfgang Nachbauer, Andreas Eigentler, Chantal Depondt, Sandra Benaich, Perrine Charles, Claire Ewenczyk, Marie‐Lorraine Monin, Manuel Dafotakis, Kathrin Fedosov, Claire Didszun, Ummehan Ermis, Ilaria Giordano, Dagmar Timmann, Ivan Karin, Christiane Neuhofer, Claudia Stendel, Jennifer Müller vom Hagen, Julia Wolf, Marta Panzeri, Lorenzo Nanetti, Anna Castaldo, Javier Arpa, Irene Sanz‐Gallego, Michael Parkinson, Mary G. Sweeney
出版 2016Artigo -
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A clinical diagnostic algorithm for early onset cerebellar ataxia 由 Rick Brandsma, Corien C. Verschuuren‐Bemelmans, Dina Amrom, Nina Barišić, Peter Baxter, Enrico Bertini, Lubov Blumkin, Vesna Branković-Srećković, Oebele F. Brouwer, Katrin Bürk, Coriene E. Catsman‐Berrevoets, Dana Craiu, I.F.M. de Coo, J. Gburek, C Kennedy, Tom J. de Koning, H.P.H. Kremer, Ram Kumar, Alfons Macaya, Alessia Micalizzi, Marisol Mirabelli-Badenier, Andrea H. Németh, Sara Nuovo, Bwee Tien Poll‐The, Tally Lerman‐Sagie, Maja Steinlin, Matthis Synofzik, Marina A.J. Tijssen, Gessica Vasco, Michèl A.A.P. Willemsen, Ginevra Zanni, Enza Maria Valente, Eugen Boltshauser, Deborah A. Sival
出版 2019Revisão
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Ataxia
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Internal medicine
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Cerebellar ataxia
Gene
Genetics
Atrophy
Degenerative disease
Frataxin
Iron-binding proteins
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