نتائج البحث - Stephan Klebe
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Blood-based biomarker in Parkinson’s disease: potential for future applications in clinical research and practice حسب Lars Tönges, Carsten Buhmann, Stephan Klebe, Jochen Klucken, Eun Hae Kwon, Thomas Müller, David J. Pedrosa, Nils Schröter, Peter Riederer, Paul Lingor
منشور في 2022Revisão -
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The cardiomyopathy in Friedreich's ataxia — New biomarker for staging cardiac involvement حسب Frank Weidemann, Dan Liu, Kai Hu, C. Florescu, Markus Niemann, Sebastian Herrmann, B Krämer, Stephan Klebe, Kathrin Doppler, Nurcan Üçeyler, Christian Ritter, Georg Ertl, Stefan Störk
منشور في 2015Artigo -
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Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia حسب Rebecca Schüle, Nina Schlipf, Matthis Synofzik, Stephan Klebe, Sven Klimpe, Ute Hehr, Beate Winner, Tobias Lindig, A Dotzer, Olaf Rieß, Jürgen Winkler, Lüdger Schöls, Peter Bauer
منشور في 2009Artigo -
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Dermal phospho-alpha-synuclein deposits confirm REM sleep behaviour disorder as prodromal Parkinson’s disease حسب Kathrin Doppler, Hanna-Maria Jentschke, Lena Schulmeyer, Dávid Vadász, Annette Janzen, Markus Luster, H. Höffken, Geert Mayer, Joachim Brumberg, Jan Booij, Thomas Musacchio, Stephan Klebe, Elisabeth Sittig‐Wiegand, Jens Volkmann, Claudia Sommer, Wolfgang H. Oertel
منشور في 2017Artigo -
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Polymorphisms in the glial glutamate transporter <i>SLC1A2</i> are associated with essential tremor حسب Sandra Thier, Delia Lorenz, Michael Nothnagel, Caroline Poremba, Frank Papengut, Silke Appenzeller, Steffen Paschen, Frank Hofschulte, Anna-Christina Hussl, Sascha Hering, Werner Poewe, Friedrich Asmus, Thomas Gasser, Lüdger Schöls, Kaare Christensen, Almut Nebel, Stefan Schreiber, Stephan Klebe, Günther Deuschl, Gregor Kuhlenbäumer
منشور في 2012Artigo -
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KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations حسب Stephan Klebe, Alexander Lossos, Hamid Azzedine, Emeline Mundwiller, Ruth Sheffer, Marion Gaussen, Cécilia Marelli, Magdalena Nawara, Wassila Carpentier, Vincent Meyer, Agnès Rastetter, Elodie Martin, Delphine Bouteiller, Laurent Orlando, Gàbor Gyapay, Khalid H. El-Hachimi, Bat-El Zimmerman, Moriya Gamliel, Adel Misk, Israela Lerer, Alexis Brice, Alexandra Durr, Giovanni Stévanin
منشور في 2012Artigo -
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Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias? حسب Mathieu Barbier, Claire-Sophie Davoine, Emilien Petit, Maximilien Porché, Léna Guillot‐Noël, Sabrina Sayah, Anne-Laure Fauret, Jean‐Philippe Neau, Lucie Guyant‐Maréchal, Didier Deffond, Christine Tranchant, Cyril Goizet, Giulia Coarelli, Anna Castrioto, Stephan Klebe, Claire Ewenczyk, Anna Heinzmann, Perrine Charles, Maya Tchikviladzé, Christine Van Broeckhoven, Alexis Brice, Alexandra Dürr
منشور في 2022Artigo -
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Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1 حسب Alleene V. Strickland, Maria Schabhüttl, H. Offenbacher, Matthis Synofzik, Natalie Hauser, Michaela Brunner‐Krainz, U Gruber‐Sedlmayr, Steven A. Moore, Reinhard Windhager, Benjamin Bender, Matthew B. Harms, Stephan Klebe, Peter Young, Marina Kennerson, Avencia Sanchez Mejias Garcia, Michael Gonzalez, Stephan Züchner, Rebecca Schüle, Michael E. Shy, Michaela Auer‐Grumbach
منشور في 2015Artigo -
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<i>PARKIN</i>Inactivation Links Parkinson’s Disease to Melanoma حسب Hui‐Han Hu, Caroline Kannengiesser, Suzanne Lesage, Jocelyne André, Samia Mourah, Laurence Michel, V. Descamps, Nicole Basset‐Séguin, M. Bagot, Armand Bensussan, Célèste Lebbé, Lydia Deschamps, Philippe Saïag, M.‐T. Leccia, Brigitte Bressac–de Paillerets, A. Tsalamlal, Rajiv Kumar, Stephan Klebe, Bernard Grandchamp, Nathalie Andrieu‐Abadie, L. Thomas, Alexis Brice, Nicolas Dumaz, Nadem Soufir
منشور في 2015Artigo -
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RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans حسب Christel Depienne, Delphine Bouteiller, Aurélie Méneret, S. Billot, Sergiu Groppa, Stephan Klebe, Fanny Charbonnier‐Beaupel, Jean‐Christophe Corvol, Jean‐Paul Saraiva, Norbert Brueggemann, Kailash P. Bhatia, M. Cincotta, Vanessa Brochard, Constance Flamand‐Roze, Wassila Carpentier, Sabine Meunier, Yannick Marie, Marion Gaussen, Giovanni Stévanin, Rosine Wehrlé, Marie Vidailhet, Christine Klein, Isabelle Dusart, Alexis Brice, Emmanuel Roze
منشور في 2012Artigo -
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Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy حسب Stephan Klebe, Christel Depienne, S. Gerber, Georges Challe, Mathieu Anheim, Perrine Charles, Estelle Fédirko, Elodie Lejeune, Julien Cottineau, Alfredo Brusco, Hélène Dollfus, Patrick F. Chinnery, Cecilia Mancini, Xavier Ferrer, Guilhem Solé, A. Destée, Jean-Michel Mayer, Bertrand Fontaine, de Sèze, Michel Clanet, Elisabeth Ollagnon, Philippe Busson, Cécile Cazeneuve, Giovanni Stévanin, Josseline Kaplan, Jean‐Michel Rozet, Alexis Brice, Alexandra Dürr
منشور في 2012Artigo -
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Congenital mirror movements حسب Aurélie Méneret, Christel Depienne, Florence Riant, Oriane Trouillard, Delphine Bouteiller, M. Cincotta, Pierre Bitoun, Julia Wickert, Lagroua Isabelle, Ana Westenberger, Alessandra Borgheresi, Diane Doummar, Marcello Romano, Símone Rossi, Luc Defebvre, Linda De Meırleır, Alberto J. Espay, Simona Fiori, Stephan Klebe, Chloé Quēlin, Sabine Rudnik–Schöneborn, Ghislaine Plessis, Russell C. Dale, Susan Sklower Brooks, Karolina Dzieżyc, Pierre Pollak, Jean‐Louis Golmard, Marie Vidailhet, Alexis Brice, Emmanuel Roze
منشور في 2014Artigo -
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Comprehensive analysis of the mutation spectrum in 301 German ALS families حسب Kathrin Müller, Dávid Brenner, Patrick Weydt, Thomas Meyer, Torsten Grehl, Susanne Petri, Julian Großkreutz, Joachim Schuster, Alexander E. Volk, Guntram Borck, Christian Kubisch, Thomas Klopstock, Daniel Zeller, Sibylle Jablonka, Michael Sendtner, Stephan Klebe, Antje Knehr, Kornelia Günther, Joachim Weis, Kristl G. Claeys, Berthold Schrank, Anne‐Dorte Sperfeld, Annemarie Hübers, Markus Otto, Johannes Dorst, Thomas Meitinger, Tim M. Strom, Peter M. Andersen, Albert C. Ludolph, Jochen H. Weishaupt
منشور في 2018Artigo -
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Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions حسب Lars Mohren, Friedrich Erdlenbruch, Elsa Leitão, Fabian Kilpert, Georg Sebastian Hönes, Sabine Kaya, Christopher Schröder, Andreas Thieme, Marc Sturm, Joohyun Park, Agatha Schlüter, Montserrat Ruíz, Moisés Morales de la Prida, Carlos Casasnovas, Kerstin Becker, Ulla Roggenbuck, Sonali Pechlivanis, Frank J. Kaiser, Matthis Synofzik, Thomas Wirth, Mathieu Anheim, Tobias B. Haack, Paul J. Lockhart, Karl‐Heinz Jöckel, Aurora Pujol, Stephan Klebe, Dagmar Timmann, Christel Depienne
منشور في 2024Artigo -
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A Randomized Trial of Deep-Brain Stimulation for Parkinson's Disease حسب Günther Deuschl, Carmen Schade‐Brittinger, Paul Krack, Jens Volkmann, H. Schäfer, Kai Bötzel, Christine Daniels, Angela Deutschländer, Ulrich Dillmann, Wilhelm Eisner, Doreen Gruber, Wolfgang Hamel, Jan Herzog, Rüdiger Hilker, Stephan Klebe, Manja Kloß, Jan Koy, Martín Krause, Andreas Kupsch, Delia Lorenz, Stefan Lorenzl, H. Maximilian Mehdorn, J. R. Moringlane, Wolfgang H. Oertel, Marcus O. Pinsker, Heinz Reichmann, Alexander Reuß, Gerd‐Helge Schneider, Alfons Schnitzler, U. Steude, Volker Sturm, Lars Timmermann, Volker Tronnier, Thomas Trottenberg, Lars Wojtecki, Elisabeth Wolf, Werner Poewe, Jürgen Voges
منشور في 2006Artigo -
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Longitudinal analysis of impulse control disorders in Parkinson disease حسب Jean‐Christophe Corvol, Fanny Artaud, Florence Cormier‐Dequaire, Olivier Rascol, Franck Durif, Pascal Derkinderen, Ana Marqués, Frédéric Bourdain, Jean‐Philippe Brandel, Fernando Pico, Lucette Lacomblez, Cécilia Bonnet, Christine Brefel‐Courbon, Fabienne Ory‐Magne, David Grabli, Stephan Klebe, Graziella Mangone, Hana You, Valérie Mesnage, Pei‐Chen Lee, Alexis Brice, Marie Vidailhet, Alexis Elbaz, Jean‐Christophe Corvol, Alexis Elbaz, Marie Vidailhet, Alexis Brice, Alexis Elbaz, Fanny Artaud, Frédéric Bourdain, Jean‐Philippe Brandel, Jean‐Christophe Corvol, Pascal Derkinderen, Franck Durif, Richard Levy, Fernando Pico, Olivier Rascol, Anne-Marie Bonnet, Cécilia Bonnet, Christine Brefel‐Courbon, Florence Cormier‐Dequaire, Bertrand Degos, Bérangère Debilly, Alexis Elbaz, Monique Galitsky, David Grabli, Andréas Hartmann, Stephan Klebe, Julia Kraemmer, Lucette Lacomblez, Sara Leder, Graziella Mangone, Louise‐Laure Mariani, Ana Marqués, Valérie Mesnage, Julia Muellner, Fabienne Ory‐Magne, Violaine Planté-Bordeneuve, Emmanuel Roze, Mélissa Tir, Marie Vidailhet, Hana You, Eve Benchetrit, Julie Socha, Fanny Pineau, Tiphaine Vidal, Elsa Pomies, Virginie Bayet, Alexis Brice, Suzanne Lesage, Khadija Tahiri, Hélène Bertrand, Graziella Mangone, Alain Mallet, Coralie Villeret, Merry Mazmanian, Hakima Manseur, Mostafa Hajji, Benjamin Le Toullec, Vanessa Brochard, Monica Roy, Isabelle Rieu, Stéphane Bernard, Antoine Faurie-Grepon
منشور في 2018Artigo -
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Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers حسب Niccolò E. Mencacci, Ioannis U. Isaias, Martin M. Reich, Christos Ganos, Vincent Plagnol, James M. Polke, José Brás, Joshua Hersheson, María Stamelou, Alan Pittman, Alastair Noyce, Kin Y. Mok, Thomas Opladen, Erdmute Kunstmann, Sybille Hodecker, Alexander Münchau, Jens Volkmann, Samuel Samnick, Katie Sidle, Tina Nanji, Mary G. Sweeney, Henry Houlden, Amit Batla, Anna Zecchinelli, Gianni Pezzoli, Giorgio Marotta, Andrew J. Lees, Paulo Alegria, Paul Krack, Florence Cormier‐Dequaire, Suzanne Lesage, Alexis Brice, Peter Heutink, Thomas Gasser, Steven Lubbe, Huw R. Morris, Pille Taba, Sulev Kõks, Elisa Majounie, J. Raphael Gibbs, Andrew Singleton, John Hardy, Stephan Klebe, Kailash P. Bhatia, Nicholas Wood
منشور في 2014Artigo
أدوات البحث:
موضوعات ذات صلة
Medicine
Biology
Genetics
Gene
Neuroscience
Disease
Internal medicine
Parkinson's disease
Pathology
Phenotype
Ataxia
Allele
Hereditary spastic paraplegia
Exome sequencing
Mutation
Psychiatry
Psychology
Amyotrophic lateral sclerosis
Cerebellar ataxia
Essential tremor
Genotype
Physical therapy
Cerebral palsy
Genetic heterogeneity
Missense mutation
Neurology
Physical medicine and rehabilitation
Population
Spastic
Spasticity