Alexandra Dürr
1994–2025 年に発表
- 別表記
- Alexandra Durr
- 290
- 論文数
- 54,283
- 被引用数
- 121
- h 指数
- 281
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Medicine45.6%
- Neuroscience32.4%
- Biochemistry, Genetics and Molecular Biology19.5%
- Immunology and Microbiology0.4%
- Computer Science0.4%
- Psychology0.3%
- その他1.4%
トピック
- Parkinson's Disease Mechanisms and Treatments11.6%
- Genetic Neurodegenerative Diseases10.4%
- Mitochondrial Function and Pathology6%
- Neurological disorders and treatments5.4%
- Amyotrophic Lateral Sclerosis Research3.5%
- Neurological diseases and metabolism3.5%
- その他59.6%
共著者
- Alexis Brice132
- Giovanni Stévanin67
- Lüdger Schöls42
- Perrine Charles41
- Caterina Mariotti33
- Thomas Klockgether33
- Paola Giunti31
- Sarah J. Tabrizi30
- Sophie Tézenas du Montcel28
- Yves Agid28
- Giulia Coarelli27
- Mathieu Anheim27
- Sylvia Boesch26
- Cyril Goizet25
- Fanny Mochel25
- Bart P.C. van de Warrenburg24
- Dagmar Timmann24
- Blair R. Leavitt22
- Sylvie Forlani22
- Alessandro Filla21
- Claire Ewenczyk21
- Raymund A.C. Roos21
- Massimo Pandolfo20
- Maria Rakowicz19
全論文
- Second consensus statement on the diagnosis of multiple system atrophy
著者: S. Gilman, Gregor K. Wenning, Phillip A. Low, David J. Brooks, C. J. Mathias, John Q. Trojanowski, Nicholas Wood, Carlo Colosimo, Alexandra Dürr, Clare J. Fowler, Horacio Kaufmann, Thomas Klockgether, Andrew J. Lees, Werner Poewe, Niall Quinn, Tamás Révész, David L. Robertson, Paola Sandroni, Klaus Seppi, Marie Vidailhet - Neurology 2008 被引用: 3,154
- Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
著者: E. Sidransky, Mike A. Nalls, Jan Aasly, J. Aharon‐Peretz, Grazia Annesi, Egberto Reis Barbosa, Anat Bar‐Shira, Daniela Berg, José Brás, Alexis Brice, Chien‐Ming Chen, Lorraine N. Clark, Christel Condroyer, Elvira Valeria De Marco, Alexandra Dürr, Michael J. Eblan, S Fahn, Matthew J. Farrer, Hon‐Chung Fung, Ziv Gan‐Or, Thomas Gasser, Ruth Gershoni‐Baruch, Nir Giladi, Alida Griffith, Tanya Gurevich, Cristina Januário, Peter Kropp, Anthony E. Lang, Guey‐Jen Lee‐Chen, Suzanne Lesage, K. Marder, Ignácio F. Mata, Anat Mirelman, Jun Mitsui, Ikuko Mizuta, Giuseppe Nicoletti, Catarina R. Oliveira, Ruth Ottman, Avi Orr‐Urtreger, Lygia V. Pereira, Aldo Quattrone, Ekaterina Rogaeva, A. Rolfs, Hanna Rosenbaum, Roberto Rozenberg, Ali Samii, T. Samaddar, Claudia Schulte, Manu Sharma, Andrew Singleton, Mariana Spitz, Eng‐King Tan, N. Tayebi, Tatsushi Toda, A. R. Troiano, Shoji Tsuji, Matthias Wittstock, Tyra G. Wolfsberg, Yih‐Ru Wu, Cyrus P. Zabetian, Yirui Zhao, Shira G. Ziegler - New England Journal of Medicine 2009 被引用: 2,126
- Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
著者: Wouter van Rheenen, Rick A. A. van der Spek, Mark K. Bakker, Joke J.F.A. van Vugt, Paul J. Hop, Ramona A.J. Zwamborn, Niek de Klein, Harm-Jan Westra, Olivier B. Bakker, Patrick Deelen, Gemma Shireby, Eilís Hannon, Matthieu Moisse, Denis Baird, Restuadi Restuadi, Egor Dolzhenko, Annelot M. Dekker, Klara Gawor, Henk‐Jan Westeneng, Gijs H.P. Tazelaar, Kristel R. van Eijk, Maarten Kooyman, Ross P. Byrne, Mark A. Doherty, Mark Heverin, Ahmad Al Khleifat, Alfredo Iacoangeli, Aleksey Shatunov, Nicola Ticozzi, Johnathan Cooper‐Knock, Bradley Smith, Marta Gromicho, Siddharthan Chandran, Suvankar Pal, Karen Morrison, Pamela J. Shaw, John Hardy, Richard W. Orrell, Michael Sendtner, Thomas Meyer, Nazlı Başak, Anneke J. van der Kooi, Antonia Ratti, Isabella Fogh, Cinzia Gellera, Giuseppe Lauria, Stefania Corti, Cristina Cereda, Daisy Sproviero, Sandra D’Alfonso, Gianni Sorarú, Gabriele Siciliano, Massimiliano Filosto, Alessandro Padovani, Adriano Chiò, Andrea Calvo, Cristina Moglia, Maura Brunetti, Antonio Canosa, Maurizio Grassano, Ettore Beghi, Elisabetta Pupillo, Giancarlo Logroscino, Beatrice Nefussy, Alma Osmanovic, Angelica Nordin, Yossef Lerner, Michal Zabari, Marc Gotkine, Robert H. Baloh, Shaughn Bell, Patrick Vourc’h, Philippe Corcia, Philippe Couratier, Stéphanie Millecamps, Vincent Meininger, François Salachas, Jesús S. Mora Pardina, Abdelilah Assialioui, Ricardo Rojas-García, Patrick A. Dion, Jay P. Ross, Albert C. Ludolph, Jochen H. Weishaupt, Dávid Brenner, Axel Freischmidt, Gilbert Bensimon, Alexis Brice, Alexandra Durr, C. Payán, Safa Saker-Delye, Nicholas Wood, Simon Topp, Rosa Rademakers, Lukas Tittmann, Wolfgang Lieb, André Franke, Stephan Ripke, Alice Braun, Julia Kraft ほか 182 名 - Nature Genetics 2021 被引用: 552
- Scale for the assessment and rating of ataxia
著者: T. Schmitz-Hübsch, Sophie Tézenas du Montcel, L. Baliko, José Berciano, Sylvia Boesch, Chantal Depondt, Paola Giunti, Christoph Globas, Jon Infante, J.-S. Kang, B. Kremer, Caterina Mariotti, Béla Melegh, M. Pandolfo, Maria Rakowicz, Pascale Ribaı̈, Rafał Rola, Lüdger Schöls, Sandra Szymanski, Bart P.C. van de Warrenburg, Alexandra Dürr, Thomas Klockgether - Neurology 2006 被引用: 1,958
- Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
著者: Daniel G. Healy, Mario Falchi, Sean S. O’Sullivan, Vincenzo Bonifati, Alexandra Durr, Susan Bressman, Alexis Brice, Jan Aasly, Cyrus P. Zabetian, Stefano Goldwurm, Joaquim J. Ferreira, Eduardo Tolosa, Denise M. Kay, Christine Klein, David R. Williams, Connie Marras, Anthony E. Lang, Zbigniew K. Wszołek, José Berciano, Anthony H.V. Schapira, Timothy Lynch, Kailash P. Bhatia, Thomas Gasser, Andrew J. Lees, Nicholas Wood - The Lancet Neurology 2008 被引用: 1,563
- Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease
著者: Laurie Robak, Iris E. Jansen, Jeroen van Rooij, André G. Uitterlinden, Robert Kraaij, Joseph Jankovic, Peter Heutink, Joshua Shulman, Mike A. Nalls, Vincent Plagnol, Dena G Hernandez, Manu Sharma, Una‐Marie Sheerin, Mohamad Saad, Javier Simón‐Sánchez, Claudia Schulte, Suzanne Lesage, Sigurlaug Sveinbjörnsdóttir, Sampath Arepalli, Roger A. Barker, Yoav Ben-, Henk W. Berendse, Daniela Berg, Kailash P. Bhatia, Rob M.A. de Bie, Alessandro Biffi, Bas Bloem, Zoltán Bochdanovits, Michael von Bonin, José Brás, Kathrin Brockmann, Janet Brooks, David J. Burn, Elisa Majounie, Gavin Charlesworth, Codrin Lungu, Honglei Chen, Patrick F. Chinnery, Sean Chong, Carl E Clarke, Mark Cookson, Jonathan M. Cooper, Jean‐Christophe Corvol, Carl Counsell, Philippe Damier, Jean‐François Dartigues, Panos Deloukas, Günther Deuschl, David T. Dexter, Karin D. van Dijk, Allissa Dillman, F. Durif, Alexandra Dürr, Sarah Edkins, Jonathan Evans, Thomas Foltynie, Jing Dong, Michelle Gardner, J. Raphael Gibbs, Alison Goate, Emma Gray, Rita Guerreiro, Clare Harris, Jacobus J. van Hilten, Albert Hofman, Albert R. Hollenbeck, Janice L. Holton, Michele Hu, Xuemei Huang, Isabel Wurster, Walter Mätzler, Gavin Hudson, Sarah Hunt, Johanna Huttenlocher, Thomas Illig, Pálmi V. Jónsson, Jean‐Charles Lambert, Cordelia Langford, Andrew J. Lees, Peter Lichtner, Patricia Limousin, Grisel Lopez, Delia Lorenz, Codrin Lungu, Alisdair McNeill, Catriona Moorby, Matthew Moore, Huw R. Morris, Karen Morrison, Valentina Escott‐Price, Ese Mudanohwo, Sean S. O’Sullivan, Justin Pearson, Joel S. Perlmutter, Hjörvar Pétursson, Pierre Pollak, Bart Post, Simon Potter, Bernard Ravina, Tamás Révész ほか 40 名 - Brain 2017 被引用: 451
- Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
著者: PARALS Registry, Wouter van Rheenen, SLALOM Group, SLAP Registry, NNIPPS Study Group, Aleksey Shatunov, Annelot M. Dekker, Russell L. McLaughlin, Frank P. Diekstra, Sara L. Pulit, Rick A. A. van der Spek, Urmo Võsa, Simone de Jong, Matthew R. Robinson, Jian Yang, Isabella Fogh, Perry Tc van Doormaal, Gijs Tazelaar, Max Koppers, Anna M. Blokhuis, William Sproviero, Ashley R Jones, Kevin P. Kenna, Kristel R. van Eijk, Oliver Harschnitz, Raymond D. Schellevis, William J. Brands, Jelena Medic, Androniki Menelaou, Alice Vajda, Nicola Ticozzi, Kuang Lin, Boris Rogelj, Katarina Vrabec, Metka Ravnik‐Glavač, Blaž Koritnik, Janez Zidar, Lea Leonardis, Leja Dolenc Grošelj, Stéphanie Millecamps, François Salachas, Vincent Meininger, Mamede de Carvalho, Susana Pinto, Jesús S. Mora, Ricardo Rojas-García, Meraida Polak, Siddharthan Chandran, Shuna Colville, Robert Swingler, Karen Morrison, Pamela J. Shaw, John Hardy, Richard W. Orrell, Alan Pittman, Katie Sidle, Pietro Fratta, Andrea Malaspina, Simon Topp, Susanne Petri, Susanne Abdulla, Carsten Drepper, Michael Sendtner, Thomas Meyer, Roel A. Ophoff, Kim A. Staats, Martina Wiedau‐Pazos, Catherine Lomen‐Hoerth, Vivianna M. Van Deerlin, John Q. Trojanowski, Lauren Elman, Leo McCluskey, A. Nazlı Başak, Ceren Tunca, Hamid Hamzeiy, Yeşim Parman, Thomas Meitinger, Peter Lichtner, Milena Radivojkov‐Blagojevic, Christian Andrés, Cindy Maurel, Gilbert Bensimon, G. Bernhard Landwehrmeyer, Alexis Brice, Christine Payan, Safaa Saker-Delye, Alexandra Dürr, Nicholas Wood, Lukas Tittmann, Wolfgang Lieb, André Franke, Marcella Rietschel, Sven Cichon, Markus M. Nöthen, Philippe Amouyel, Christophe Tzourio, Jean‐François Dartigues, André G. Uitterlinden, Fernando Rivadeneira, Karol Estrada ほか 81 名 - Nature Genetics 2016 被引用: 628
- Huntington’s disease alters human neurodevelopment
著者: Monia Barnat, Mariacristina Capizzi, Esther Aparicio, Susana Boluda, Doris Wennagel, Radhia Kacher, Rayane Kassem, Sophie Lenoir, Fabienne Agasse, Barbara Y. Braz, Jeh-Ping Liu, Julien Ighil, Aude Tessier, Scott Zeitlin, Charles Duyckaerts, Marc Dommergues, Alexandra Dürr, Sandrine Humbert - Science 2020 被引用: 331
- Tominersen in Adults with Manifest Huntington’s Disease
著者: Peter McColgan, Alpa Thobhani, Lauren Boak, Scott Schobel, Alessia Nicotra, Giuseppe Palermo, Dylan Trundell, Julian Q. Zhou, Valerie Schlegel, Patricia Sanwald Ducray, David J. Hawellek, Jonas F. Dorn, Cédric Simillion, Michael Lindemann, Vicki Wheelock, Alexandra Dürr, Karen E. Anderson, Jeffrey D. Long, Edward J. Wild, G. Bernhard Landwehrmeyer, Blair R. Leavitt, Sarah J. Tabrizi, Rachelle S. Doody - New England Journal of Medicine 2023 被引用: 113
- Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
著者: Suzanne Lesage, Valérie Drouet, Elisa Majounie, Vincent Deramecourt, Maxime Jacoupy, Aude Nicolas, Florence Cormier‐Dequaire, Sidi Mohamed Hassoun, Claire Pujol, Sorana Ciura, Zoi Erpapazoglou, Tatiana Usenko, Claude‐Alain Maurage, Mourad Sahbatou, Stefan Liebau, Jinhui Ding, Başar Bılgıç, Murat Emre, Nihan Erginel‐Ünaltuna, Gamze Güven, François Tison, Christine Tranchant, Marie Vidailhet, Jean‐Christophe Corvol, Paul Krack, Anne‐Louise Leutenegger, Michael A. Nalls, Dena G. Hernandez, Peter Heutink, J. Raphael Gibbs, John Hardy, Nicholas Wood, Thomas Gasser, Alexandra Dürr, Jean‐François Deleuze, Mériem Tazir, A. Destée, Ebba Lohmann, Edor Kabashi, Andrew Singleton, Olga Corti, Alexis Brice, Suzanne Lesage, François Tison, Marie Vidailhet, Jean‐Christophe Corvol, Yves Agid, Mathieu Anheim, Anne-Marie Bonnet, Michel Borg, Emmanuel Broussolle, Philippe Damier, A. Destée, Alexandra Dürr, Franck Durif, Paul Krack, Stephan Klebe, Ebba Lohmann, María Martínez, Pierre Pollak, Olivier Rascol, Christine Tranchant, Marc Vérin, François Viallet, Alexis Brice, Suzanne Lesage, Elisa Majounie, François Tison, Marie Vidailhet, Jean‐Christophe Corvol, Michael A. Nalls, Dena G. Hernandez, J. Raphael Gibbs, Alexandra Dürr, Sampath Arepalli, Roger A. Barker, Yoav Ben‐Shlomo, Daniela Berg, Francesco Bettella, Kailash P. Bhatia, Rob M.A. de Bie, Alessandro Biffi, Bastiaan R. Bloem, Zoltán Bochdanovits, Michael von Bonin, Suzanne Lesage, François Tison, Marie Vidailhet, Jean‐Christophe Corvol, Yves Agid, Mathieu Anheim, Anne-Marie Bonnet, Michel Borg, Emmanuel Broussolle, Philippe Damier, A. Destée, Alexandra Dürr, Franck Durif, Paul Krack, Stephan Klebe ほか 123 名 - The American Journal of Human Genetics 2016 被引用: 447
- A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies
著者: Michael A. Nalls, Raquel Durán, Grisel Lopez, Marzena Kurzawa‐Akanbi, Ian G. McKeith, Patrick F. Chinnery, Christopher M. Morris, Jessie Theuns, David Crosiers, Patrick Cras, Sebastiaan Engelborghs, Peter Paul De Deyn, Christine Van Broeckhoven, David M. A. Mann, Julie S. Snowden, Stuart Pickering‐Brown, Nicola Halliwell, Yvonne S. Davidson, Linda Gibbons, Jenny Harris, Una‐Marie Sheerin, José Brás, John Hardy, Lorraine N. Clark, Karen Marder, Lawrence S. Honig, Daniela Berg, Walter Maetzler, Kathrin Brockmann, Thomas Gasser, Fabiana Novellino, Aldo Quattrone, Grazia Annesi, Elvira Valeria De Marco, Ekaterina Rogaeva, Mario Masellis, Sandra E. Black, Juan M. Bilbao, Tatiana Foroud, Bernardino Ghetti, William C. Nichols, Nathan Pankratz, Glenda M. Halliday, Suzanne Lesage, Stephan Klebe, Alexandra Dürr, Charles Duyckaerts, Alexis Brice, Benoit I. Giasson, John Q. Trojanowski, Howard I. Hurtig, Nahid Tayebi, Claudia Landazabal, Melanie A. Knight, Margaux F. Keller, Andrew Singleton, Tyra G. Wolfsberg, Ellen Sidransky - JAMA Neurology 2013 被引用: 444
- A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes
著者: Marc Ciosi, Alastair Maxwell, Sarah A. Cumming, Davina J. Hensman Moss, Asma M. Alshammari, Michael Flower, Alexandra Dürr, Blair R. Leavitt, Raymund A.C. Roos, Peter Holmans, Lesley Jones, Douglas R. Langbehn, Seung Kwak, Sarah J. Tabrizi, Darren G. Monckton - EBioMedicine 2019 被引用: 179
- G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndrome
著者: Suzanne Lesage, Mathieu Anheim, Franck Letournel, Luc Bousset, Aurélie Honoré, Nelly Rozas, Laura Pieri, Karine Madiona, Alexandra Dürr, Ronald Melki, Christophe Verny, Alexis Brice, for the French Parkinson's Disease Genetics Study Group - Annals of Neurology 2013 被引用: 723
- Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
著者: Davina J. Hensman Moss, Antonio F. Pardiñas, Douglas R. Langbehn, Kitty Lo, Blair R. Leavitt, Raymund A.C. Roos, Alexandra Dürr, Simon Mead, A. Coleman, R. Dar Santos, Joji Decolongon, Aaron Sturrock, Éric Bardinet, C Jauff Ret, Damián Justo, Stéphane Lehéricy, Cécilia Marelli, K Nigaud, Romain Valabrègue, S. van den Bogaard, Eve M. Dumas, Jeroen van der Grond, EP t'Hart, Caroline K. Jurgens, M-N Witjes-Ane, Natalie Arran, Jenny Callaghan, Cheryl Stopford, Chris Frost, Rebecca Jones, Nicola Z. Hobbs, Nayana Lahiri, Roger J. Ordidge, Gail Owen, Tracey Pepple, Joy Read, M Say, Edward J. Wild, Aakta Patel, Nick C. Fox, Clare R. Gibbard, Ian B. Malone, Helen Crawford, D. Whitehead, Stephen Keenan, David M. Cash, C. Berna, N Bechtel, Stefan Bohlen, Alana Man, P Kraus, Eric Axelson, Chen Wang, T. Acharya, Sang Lee, W Monaco, Colin Campbell, Sarah Queller, Kathryn B. Whitlock, Colin Campbell, Melissa Campbell, E Frajman, C Milchman, Alison O’Regan, Izelle Labuschagne, Julie C. Stout, G. Bernhard Landwehrmeyer, David Craufurd, Rachael I. Scahill, S. Hicks, Christopher Kennard, Hans J. Johnson, Allan J. Tobin, H. Diana Rosas, Ralf Reilmann, Beth Borowsky, C Pourchot, Sophie C. Andrews, Anne‐Catherine Bachoud‐Lévi, Anna Rita Bentivoglio, Ida Biunno, Raphael M. Bonelli, Jean-Marc Burgunder, Stephen B. Dunnett, Joaquim J. Ferreira, Olivia Handley, Arvid Heiberg, Torsten Illmann, G. Bernhard Landwehrmeyer, Jamie Levey, María A. Ramos-Arroyo, Jørgen E. Nielsen, Susana Pro Koivisto, Markku Päivärinta, Raymund A.C. Roos, Ana Rojo Sebastián, Sarah J. Tabrizi, Wim Vandenberghe, Christine Verellen‐Dumoulin, Tereza Uhrová ほか 694 名 - The Lancet Neurology 2017 被引用: 332
- Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data
著者: Sarah J. Tabrizi, Rachael I. Scahill, Gail Owen, Alexandra Dürr, Blair R. Leavitt, Raymund A.C. Roos, Beth Borowsky, G. Bernhard Landwehrmeyer, Chris Frost, Hans J. Johnson, David Craufurd, Ralf Reilmann, Julie C. Stout, Douglas R. Langbehn - The Lancet Neurology 2013 被引用: 839
- Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data
著者: Sarah J. Tabrizi, Douglas R. Langbehn, Blair R. Leavitt, Raymund A.C. Roos, Alexandra Dürr, David Craufurd, Christopher Kennard, Stephen L. Hicks, Nick C. Fox, Rachael I. Scahill, Beth Borowsky, Allan J. Tobin, H. Diana Rosas, Hans J. Johnson, Ralf Reilmann, G. Bernhard Landwehrmeyer, Julie C. Stout - The Lancet Neurology 2009 被引用: 973
- Association between Early-Onset Parkinson's Disease and Mutations in theParkinGene
著者: Christoph B. Lücking, Alexandra Dürr, Vincenzo Bonifati, Jenny Vaughan, Giuseppe De Michele, Thomas Gasser, Biswadjiet S. Harhangi, G. Meco, Patrice Denèfle, Nicholas Wood, Yves Agid, David Nicholl, Monique M.B. Breteler, Ben A. Oostra, Michele De Mari, R. Marconi, Alessandro Filla, Muriel Bonnet, E. Broussolle, P. Timothy Pollak, Olivier Rascol, Marie Rosier, Arnould Arnould, Alexis Brice - New England Journal of Medicine 2000 被引用: 1,426
- Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington's disease: a retrospective cohort analysis
著者: Lauren M. Byrne, Filipe B. Rodrigues, Kaj Blennow, Alexandra Dürr, Blair R. Leavitt, Raymund A.C. Roos, Rachael I. Scahill, Sarah J. Tabrizi, Henrik Zetterberg, Douglas R. Langbehn, Edward J. Wild - The Lancet Neurology 2017 被引用: 357
- Causal relation between α-synuclein locus duplication as a cause of familial Parkinson's disease
著者: Pablo Ibáñez, A-M Bonnet, Béatrice Debarges, Ebba Lohmann, François Tison, Yves Agid, Alexandra Dürr, Alexis Brice, Pierre Pollak - The Lancet 2004 被引用: 1,052
- Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes
著者: Victoria Campuzano, Laura Montermini, Yves Lutz, Lidia Cova, C. Hindelang, Sarn Jiralerspong, Yvon Trottier, Stephen J. Kish, Baptiste Faucheux, P Trouillas, François‐Jérôme Authier, Alexandra Dürr, Jean‐Louis Mandel, Angelo L. Vescovi, Massimo Pandolfo, M. Koenig - Human Molecular Genetics 1997 被引用: 741
- Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study
著者: Heike Jacobi, Sophie Tézenas du Montcel, Peter Bauer, Paola Giunti, Arron Cook, Robyn Labrum, Michael Parkinson, Alexandra Dürr, Alexis Brice, Perrine Charles, Cécilia Marelli, Caterina Mariotti, Lorenzo Nanetti, Marta Panzeri, Maria Rakowicz, Anna Sułek, Anna Sobańska, Tanja Schmitz‐Hübsch, Lüdger Schöls, Holger Hengel, László Balikó, Béla Melegh, Alessandro Filla, Antonella Antenora, Jon Infante, José Berciano, Bart P.C. van de Warrenburg, Dagmar Timmann, Sandra Szymanski, Sylvia Boesch, Jun-Suk Kang, Massimo Pandolfo, Jörg B. Schulz, Sonia Molho, Alhassane Diallo, Thomas Klockgether - The Lancet Neurology 2015 被引用: 299
- Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
著者: Jean‐Loup Méreaux, Claire-Sophie Davoine, David Pellerin, Giulia Coarelli, Marie Coutelier, Claire Ewenczyk, Marie‐Lorraine Monin, Mathieu Anheim, Isabelle Le Ber, Stéphane Thobois, Florent Gobert, Léna Guillot‐Noël, Sylvie Forlani, Ludmila Jornéa, Anna Heinzmann, Aude Sangaré, Bertrand Gaymard, Lucie Guyant‐Maréchal, Perrine Charles, Cécilia Marelli, Jérôme Honnorat, Bertrand Degos, François Tison, Sophie Sangla, M. Simonetta‐Moreau, François Salachas, Maya Tchikviladzé, Giovanni Castelnovo, Fanny Mochel, Stephan Klebe, Anna Castrioto, Silvia Fenu, Aurélie Méneret, Frédéric Bourdain, Marion Wandzel, Virginie Roth, Céline Bonnet, Florence Riant, Giovanni Stévanin, Sandrine Noël, Anne‐Laure Fauret‐Amsellem, Melanie Bahlo, Paul J. Lockhart, Bernard Brais, Mathilde Renaud, Alexis Brice, Alexandra Dürr - EBioMedicine 2023 被引用: 57
- Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
著者: Maria-Ceù Moreira, Sandra Klur, Masao Watanabe, Andrea H. Németh, Isabelle Le Ber, José-Carlos Moniz, Christine Tranchant, Patrick Aubourg, Meriem Tazir, Lüdger Schöls, Massimo Pandolfo, Jörg B. Schulz, Jean Pouget, Patrick Calvas, Masami Shizuka‐Ikeda, Mikio Shoji, Μakoto Tanaka, Louise Izatt, Christopher E. Shaw, M’zahem Abderrahim, Eimear Dunne, Pascale Bomont, Traki Benhassine, Naïma Bouslam, Giovanni Stévanin, Alexis Brice, Joao C. Guimaraes, Pedro Mendonça, Clara Barbot, Paula Coutinho, Jorge Sequeiros, Alexandra Dürr, Jean‐Marie Warter, Michel Kœnig - Nature Genetics 2004 被引用: 521
- Autosomal dominant cerebellar ataxias: new genes and progress towards treatments
著者: Giulia Coarelli, Marie Coutelier, Alexandra Dürr - The Lancet Neurology 2023 被引用: 84
