Stephan Züchner
1997–2025 年に発表
- 別表記
- Stephan Zuchner
- 190
- 論文数
- 21,242
- 被引用数
- 84
- h 指数
- 175
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Biochemistry, Genetics and Molecular Biology48.9%
- Medicine25.8%
- Neuroscience19.2%
- Nursing1.5%
- Psychology1.4%
- Immunology and Microbiology1%
- その他2.2%
トピック
- Mitochondrial Function and Pathology6.3%
- Genetic Neurodegenerative Diseases4.1%
- Hereditary Neurological Disorders4.1%
- Genomics and Rare Diseases3.4%
- Amyotrophic Lateral Sclerosis Research3%
- RNA Research and Splicing2.7%
- その他76.4%
共著者
- Matt C. Danzi40
- Michael Gonzalez27
- Henry Houlden26
- Rebecca Schüle26
- Adriana Rebelo25
- David Pellerin25
- Jeffery M. Vance23
- Bernard Brais21
- Matthis Synofzik21
- Lüdger Schöls20
- Jonathan Baets19
- Mary M. Reilly19
- Peter De Jonghe19
- Marie‐Josée Dicaire17
- Michael E. Shy16
- Andrea Cortese14
- Margaret A. Pericak‐Vance14
- Danique Beijer13
- Mario Saporta13
- Shawna Feely13
- Tine Deconinck13
- Dana M. Bis‐Brewer12
- Pablo Iruzubieta12
- Steven S. Scherer12
全論文
- Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
著者: David Pellerin, Matt C. Danzi, Carlo Wilke, M. Renaud, Sarah Fazal, Marie‐Josée Dicaire, Carolin K. Scriba, Catherine Ashton, Christopher Yanick, Danique Beijer, Adriana Rebelo, Clarissa Rocca, Zane Jaunmuktane, Joshua A. Sonnen, Roxanne Larivière, David Genı́s, Laura Molina‐Porcel, Karine Choquet, Rawan Sakalla, Sylvie Provost, Rebecca Robertson, Xavier Allard‐Chamard, Martine Tétreault, Sarah J. Reiling, Sara Nagy, Vikas Nishadham, Meera Purushottam, Seena Vengalil, Mainak Bardhan, Atchayaram Nalini, Zhongbo Chen, Jean Mathieu, Rami Massie, Colin Chalk, Anne‐Louise Lafontaine, François Evoy, Marie‐France Rioux, Jiannis Ragoussis, Kym M. Boycott, Marie‐Pierre Dubé, Antoine Duquette, Henry Houlden, Gianina Ravenscroft, Nigel G. Laing, Phillipa J. Lamont, Mario Saporta, Rebecca Schüle, Lüdger Schöls, Roberta La Piana, Matthis Synofzik, Stephan Züchner, Bernard Brais - New England Journal of Medicine 2022 被引用: 243
- Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
著者: Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcová, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James M. Polke, Muhammad Ilyas, Eloise Tribollet, Pedro José Tomaselli, Grazia Devigili, Ilaria Callegari, Maurizio Versino, Vincenzo Salpietro, Stéphanie Efthymiou, Diego Kaski, Nick W. Wood, Nadja S. Andrade, Elena Buglo, Adriana Rebelo, Alexander M. Rossor, Adolfo M. Bronstein, Pietro Fratta, Wilson Marques, Stephan Züchner, Mary M. Reilly, Henry Houlden - Nature Genetics 2019 被引用: 581
- TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics
著者: Ian R. Mackenzie, Alexandra M. Nicholson, Mohona Sarkar, James Messing, Maria D. Purice, Cyril Pottier, Kavya Annu, Matt Baker, Ralph B. Perkerson, Aishe Kurti, Billie J. Matchett, Tanja Mittag, Jamshid Temirov, Ging‐Yuek Robin Hsiung, Charles Krieger, Melissa E. Murray, Masato Kato, John Denis Fryer, Leonard Petrucelli, Lorne Zinman, Sandra Weıntraub, Marsel Mesulam, Julia Keith, Sasha Živković, Veronica Hirsch‐Reinshagen, Raymond P. Roos, Stephan Züchner, Neill R. Graff‐Radford, Ronald C. Petersen, Richard J. Caselli, Zbigniew K. Wszołek, Elizabeth Finger, Carol F. Lippa, David Lacomis, Heather Stewart, Dennis W. Dickson, Hong Joo Kim, Ekaterina Rogaeva, Eileen H. Bigio, Khrista Boylan, J. Paul Taylor, Rosa Rademakers - Neuron 2017 被引用: 651
- Characterization and visualization of tandem repeats at genome scale
著者: Egor Dolzhenko, Adam C. English, Harriet Dashnow, Guilherme De Sena Brandine, Tom Mokveld, William J. Rowell, Caitlin Karniski, Zev Kronenberg, Matt C. Danzi, Warren Cheung, Chengpeng Bi, Emily Farrow, Aaron M. Wenger, Khi Pin Chua, Verónica Martínez‐Cerdeño, Trevor D. Bartley, Peng Jin, David L. Nelson, Stephan Züchner, Tomi Pastinen, Aaron R. Quinlan, Fritz J. Sedlazeck, Michael A. Eberle - Nature Biotechnology 2024 被引用: 125
- dSarm/Sarm1 Is Required for Activation of an Injury-Induced Axon Death Pathway
著者: Jeannette M. Osterloh, Jing Yang, Timothy M. Rooney, A. Nicole Fox, Róbert Adalbert, Eric Powell, Amy E. Sheehan, Michelle A. Avery, Rachel Hackett, Mary A. Logan, Jennifer M. MacDonald, Jennifer S. Ziegenfuss, Stefan Milde, Ying-Ju Hou, Carl Nathan, Aihao Ding, Robert H. Brown, Laura Conforti, Michael P. Coleman, Marc Tessier‐Lavigne, Stephan Züchner, Marc Freeman - Science 2012 被引用: 724
- Validation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS
著者: Michael Benatar, Lanyu Zhang, Lily Wang, Volkan Granit, Jeffrey Statland, Richard J. Barohn, Andrea Swenson, John Ravits, Carlayne E. Jackson, Ted M. Burns, Jaya Trivedi, Erik P. Pioro, James B. Caress, Jonathan Katz, Jacob L. McCauley, Rosa Rademakers, Andrea Malaspina, Lyle W. Ostrow, Joanne Wuu, Sumaira Hussain, Anne Cooley, Yindi Li, Marielle Wallace, Julie Steele, Jessica Hernandez, Jéssica Medina, Maria Elena Paredes, Ashley Manso, Natalia Ravelo, Wendy Levy, Patrice L. Whitehead, Stephan Züchner, Mamatha Pasnoor, Omar Jawdat, Duaa Jabari, Constantine Farmakidis, Melanie Glenn, Mazen M. Dimachkie, Laura Herbelin, Hellen Tanui, Sherri Anderson, Michaela Walker, Tina Liu, Ayla McCally, Andrew Heim, Melissa Currence, Yolanda Harness, Jeri Sieren, Emilee Gibson, G. Garcia Gutierrez, Danielle Bussey, Rose Previte, Pamella Kittrell, Amruta Joshi, Amy Conger, Debbie Hastings, Irys Caristo, Mozhdeh Marandi, Simon Carty, J. Paul Taylor, Gang Wu, Evadnie Rampersaud, Rebecca Schüle, Marka van Blitterswijk - Neurology 2020 被引用: 202
- Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans
著者: Jack J. Collier, Claire Guissart, Monika Oláhová, Souphatta Sasorith, Florence Piron‐Prunier, Fumi Suomi, David Zhang, Nuria Martinez-Lopez, Nicolas Leboucq, Angela Bahr, Silvia Azzarello‐Burri, Selina Reich, Lüdger Schöls, Tuomo Polvikoski, Pierre Meyer, Lise Larrieu, Andrew M. Schaefer, Hessa S. Alsaif, Suad Alyamani, Stephan Züchner, Inês A. Barbosa, Charu Deshpande, Angela Pyle, Anita Rauch, Matthis Synofzik, Fowzan S. Alkuraya, François Rivier, Mina Ryten, Robert McFarland, Agnés Delahodde, Thomas G. McWilliams, Michel Koenig, Robert W. Taylor - New England Journal of Medicine 2021 被引用: 194
- GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response
著者: Carlo Wilke, David Pellerin, David Mengel, Andreas Traschütz, Matt C. Danzi, Marie‐Josée Dicaire, Manuela Neumann, Holger Lerche, Benjamin Bender, Henry Houlden, RFC1 study group, Jennifer Faber, Richard Roxburgh, José Luiz Pedroso, Paula Camila Alvez, Orlando Graziani Póvoas Barsottini, Chiara Pane, Francesco Saccà, Alessandro Filla, Filippo M. Santorelli, Ivana Ricca, Stephan Züchner, Lüdger Schöls, Bernard Brais, Matthis Synofzik - Brain 2023 被引用: 114
- The Human Phenotype Ontology in 2017
著者: Sebastian Köhler, Nicole A. Vasilevsky, Mark Engelstad, Erin Foster, Julie A. McMurry, Ségolène Aymé, Gareth Baynam, Susan M. Bello, Cornelius F. Boerkoel, Kym M. Boycott, Michael Brudno, Orion J. Buske, Patrick F. Chinnery, Valentina Cipriani, Laureen E. Connell, Hugh J. S. Dawkins, Laura E. DeMare, Andrew Devereau, Bert B. A. de Vries, Helen V. Firth, Kathleen Freson, Daniel Greene, Ada Hamosh, Ingo Helbig, Courtney Hum, Johanna Jähn, Roger James, Roland Krause, Stanley J. F. Laulederkind, Hanns Lochmüller, Gholson J. Lyon, Soichi Ogishima, Annie Olry, Willem H. Ouwehand, Nikolas Pontikos, Ana Rath, Franz Schaefer, Richard H. Scott, Michael Segal, Panagiotis I. Sergouniotis, Richard Sever, Cynthia L. Smith, Volker Straub, Rachel Thompson, Catherine Turner, Ernest Turro, Marijcke W. M. Veltman, Tom Vulliamy, Jing Yu, Julie von Ziegenweidt, Andreas Zankl, Stephan Züchner, Tomasz Zemojtel, Julius O. B. Jacobsen, Tudor Groza, Damian Smedley, Christopher J. Mungall, Melissa A. Haendel, Peter N. Robinson - Nucleic Acids Research, Nucleic Acids Res. 2016 被引用: 801
- Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
著者: Stephan Züchner, Irina Mersiyanova, M. Muglia, Nisrine Bissar‐Tadmouri, Julie M. Rochelle, Е. Л. Дадали, Mario Zappia, Eva Nelis, A. Patitucci, Jan Senderek, Yeşim Parman, Oleg V. Evgrafov, Peter De Jonghe, Yuji Takahashi, Shoij Tsuji, Margaret A. Pericak‐Vance, Aldo Quattrone, Esra Battologlu, A. V. Polyakov, Vincent Timmerman, J. M. Schröder, Jeffery M. Vance - Nature Genetics 2004 被引用: 1,562
- The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
著者: Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán, Anthony J. Brookes, Catherine A. Brownstein, Michael Brudno, Han G. Brunner, Orion J. Buske, Knox Carey, Cassie Doll, Sergiu Dumitriu, Stephanie O. M. Dyke, Johan T. den Dunnen, Helen V. Firth, Richard A. Gibbs, Marta Gîrdea, Michael Gonzalez, Melissa Haendel, Ada Hamosh, Ingrid A. Holm, Lijia Huang, Matthew E. Hurles, Ben Hutton, Joel B. Krier, Andriy Misyura, Chris Mungall, Justin Paschall, Benedict Paten, Peter N. Robinson, François Schiettecatte, Nara Sobreira, G. Jawahar Swaminathan, Peter E.M. Taschner, Sharon F. Terry, Nicole Washington, Stephan Züchner, Kym M. Boycott, Heidi L. Rehm - Human Mutation 2015 被引用: 488
- Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
著者: Céline Bonnet, David Pellerin, Virginie Roth, Guillemette Clément, Marion Wandzel, Laëtitia Lambert, Solène Frismand, Marian Douarinou, Anaïs Grosset, Inès Bekkour, Frédéric Weber, Florent Girardier, Clément Robin, Stéphanie Cacciatore, Myriam Bronner, Carine Bossenmeyer‐Pourié, Natacha Dreumont, Salomé Puisieux, Pablo Iruzubieta, Marie‐Josée Dicaire, François Evoy, Marie‐France Rioux, Armand Hocquel, Roberta La Piana, Matthis Synofzik, Henry Houlden, Matt C. Danzi, Stephan Züchner, Bernard Brais, M. Renaud - Scientific Reports 2023 被引用: 72
- CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis
著者: Vera Fridman, Brian N. Bundy, Mary M. Reilly, Davide Pareyson, Chelsea Bacon, Joshua Burns, John Day, Shawna Feely, Richard S. Finkel, Tiffany Grider, Callyn A. Kirk, David N. Herrmann, Matilde Laurá, J Li, Thomas E. Lloyd, Charlotte J. Sumner, Francesco Muntoni, Giuseppe Piscosquito, S Ramchandren, Rosemary Shy, Carly E. Siskind, Sabrina W. Yum, Isabella Moroni, Emanuela Pagliano, Stephan Züchner, Steven S. Scherer, Michael E. Shy - Journal of Neurology Neurosurgery & Psychiatry 2014 被引用: 344
- Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
著者: Andrea Cortese, Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J. Beecroft, Zane Jaunmuktane, Zoe Dyer, Gianina Ravenscroft, Phillipa J. Lamont, Stuart Mossman, Andrew Chancellor, Thierry Maisonobe, Yann Péréon, Cécile Cauquil, Silvia Colnaghi, Giulia Mallucci, Riccardo Curró, Pedro José Tomaselli, Gilbert Thomas‐Black, Roisin Sullivan, Stéphanie Efthymiou, Alexander M. Rossor, Matilde Laurá, Menelaos Pipis, Alejandro Horga, James M. Polke, Diego Kaski, Rita Horváth, Patrick F. Chinnery, Wilson Marques, Cristina Tassorelli, Grazia Devigili, Lea Leonardis, Nick W Wood, Adolfo M. Bronstein, Paola Giunti, Stephan Züchner, Tanya Stojkovic, Nigel G. Laing, Richard Roxburgh, Henry Houlden, Mary M. Reilly - Brain 2020 被引用: 220
- Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia
著者: David Pellerin, Matt C. Danzi, M. Renaud, Henry Houlden, Matthis Synofzik, Stephan Züchner, Bernard Brais - Clinical and Translational Medicine 2024 被引用: 71
- Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia
著者: Pablo Iruzubieta, David Pellerin, Alberto Bergareche, Inés Albájar, Elisabet Mondragón, Ana Vinagre‐Aragón, Roberto Fernández‐Torrón, Fermín Moreno, Jon Equiza, David Campo‐Caballero, Juan José Poza, M. Ruibal, Alessandro Formica, Marie‐Josée Dicaire, Matt C. Danzi, Stephan Züchner, Ioana Croitoru, Montserrat Ruíz, Agatha Schlüter, Carlos Casasnovas, Aurora Pujol, Bernard Brais, Henry Houlden, Adolfo López de Munaín, Javier Ruiz‐Martínez - European Journal of Neurology 2023 被引用: 39
- Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
著者: Andrea Cortese, Yi Zhu, Adriana Rebelo, Sara Negri, Steve Courel, Lisa Abreu, Chelsea J. Bacon, Yunhong Bai, Dana M. Bis‐Brewer, Enrico Bugiardini, Elena Buglo, Matt C. Danzi, Shawna Feely, Alkyoni Athanasiou‐Fragkouli, Nourelhoda A. Haridy, Aixa Rodríguez, Alexa Bacha, Ashley Kosikowski, Beth Wood, Brett A. McCray, Brianna Blume, Carly E. Siskind, Charlotte J. Sumner, Daniela Calabrese, David Walk, Dragan Vujović, Eun Hye Park, Francesco Muntoni, Gabrielle Donlevy, Gyula Acsádi, John Day, Joshua Burns, Jun Li, Karen Krajewski, Kate Eichinger, Kayla Cornett, Krista Mullen, Perez Quiros Laura, Laurie Gutmann, Maria Barrett, Mario Saporta, Mariola Skorupinska, Natalie Grant, Paula Bray, Reza Sadjadi, Riccardo Zuccarino, Richard S. Finkel, Richard A. Lewis, Rosemary Shy, Sabrina W. Yum, Sarah Hilbert, Simone Thomas, Steffen Behrens‐Spraggins, Tara Jones, Thomas E. Lloyd, Tiffany Grider, Tim Estilow, Vera Fridman, Rosario Isasi, Alaa Khan, Matilde Laurá, Stefania Magri, Menelaos Pipis, Chiara Pisciotta, Eric Powell, Alexander M. Rossor, Paola Saveri, Janet E. Sowden, Stefano Tozza, Jana Vandrovcová, Julia E. Dallman, Elena Grignani, Enrico Marchioni, Steven S. Scherer, Beisha Tang, Zhiqiang Lin, Abdullah Al‐Ajmi, Rebecca Schüle, Matthis Synofzik, Thierry Maisonobe, Tanya Stojkovic, Michaela Auer‐Grumbach, Mohamed A. Abdelhamed, Sherifa A. Hamed, Ruxu Zhang, Fiore Manganelli, Lucio Santoro, Franco Taroni, Davide Pareyson, Henry Houlden, David N. Herrmann, Mary M. Reilly, Michael E. Shy, R. Grace Zhai, Stephan Züchner - Nature Genetics 2020 被引用: 177
- Deep structured learning for variant prioritization in Mendelian diseases
著者: Matt C. Danzi, Maike F. Dohrn, Sarah Fazal, Danique Beijer, Adriana Rebelo, Vívian Pedigone Cintra, Stephan Züchner - Nature Communications 2023 被引用: 43
- Frequency of GAA- FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia
著者: Luiz Eduardo Novis, Rodrigo Siqueira Soares Frezatti, David Pellerin, Pedro José Tomaselli, Shahryar Alavi, Marcus Vinícius Della Coleta, Mariana Spitz, Marie‐Josée Dicaire, Pablo Iruzubieta, José Luiz Pedroso, Orlando Graziani Póvoas Barsottini, Andrea Cortese, Matt C. Danzi, Marcondes C. França, Bernard Brais, Stephan Züchner, Henry Houlden, Salmo Raskin, Wilson Marques, Hélio Afonso Ghizoni Teive - Neurology Genetics 2023 被引用: 36
- GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort
著者: David Pellerin, Felix Heindl, Carlo Wilke, Matt C. Danzi, Andreas Traschütz, Catherine Ashton, Marie‐Josée Dicaire, Alexanne Cuillerier, Giulia Gobbo, Kym M. Boycott, Jens Claaßen, Dan Rujescu, Annette M. Hartmann, Stephan Züchner, Bernard Brais, Michael Strupp, Matthis Synofzik - EBioMedicine 2024 被引用: 63
- Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study
著者: Menelaos Pipis, Shawna Feely, James M. Polke, Mariola Skorupinska, Laura Pérez, Rosemary Shy, Matilde Laurá, Jasper M. Morrow, Isabella Moroni, Chiara Pisciotta, Franco Taroni, Dragan Vujović, Thomas E. Lloyd, Gyula Acsádi, Sabrina W Yum, Richard A. Lewis, Richard S. Finkel, David N. Herrmann, John W Day, Jun Li, Mario Saporta, Reza Sadjadi, David Walk, Joshua Burns, Francesco Muntoni, Sindhu Ramchandren, Rita Horváth, Nicholas E. Johnson, Stephan Züchner, Davide Pareyson, Steven S. Scherer, Alexander M. Rossor, Michael E. Shy, Mary M. Reilly, Silvia Baratta, Paula Bray, Daniela Calabrese, Kayla Cornett, Gabrielle Donlevy, Katy Eichinger, Maria Foscan, S. Genitrini, Natalie Grant, Tara Jones, Diana Lee, Brett A. McCray, Stefania Magri, Manoj P. Menezes, Krista Mullen, Tina Nanji, Sara Nuzzo, Emanuela Pagliano, Roy Poh, Eun Hye Park, Sadaf Saba, Paola Saveri, Carly E. Siskind, Janet E. Sowden, Charlotte J. Sumner, Simone Thomas - Brain 2020 被引用: 92
- Non‐GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic—Reply to: “Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family”
著者: David Pellerin, Pablo Iruzubieta, Şeyma Tekgül, Matt C. Danzi, Catherine Ashton, Marie‐Josée Dicaire, Marion Wandzel, Virginie Roth, Phillipa J. Lamont, Céline Bonnet, M. Renaud, Matthis Synofzik, Stephan Züchner, Bernard Brais, Nazlı A. Başak, Henry Houlden - Movement Disorders 2023 被引用: 24
- Regulation of the Epigenome by Vitamin C
著者: Juan I. Young, Stephan Züchner, Gaofeng Wang - Annual Review of Nutrition 2015 被引用: 315
- Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
著者: Alexander J. Abrams, Robert B. Hufnagel, Adriana Rebelo, Claudia Zanna, Neville Patel, Michael Gonzalez, Ion John Campeanu, Laurie B. Griffin, Saskia Groenewald, Alleene V. Strickland, Feifei Tao, Fiorella Speziani, Lisa Abreu, Rebecca Schüle, Leonardo Caporali, Chiara La Morgia, Alessandra Maresca, Rocco Liguori, Raffaele Lodi, Zubair M. Ahmed, Kristen L. Sund, Xinjian Wang, Laura A. Krueger, Yanyan Peng, Carlos E. Prada, Cynthia A. Prows, Elizabeth K. Schorry, Anthony Antonellis, Holly H. Zimmerman, Omar Abdul‐Rahman, Yaping Yang, Susan M. Downes, Jeffery Prince, Flavia Fontanesi, Antonio Barrientos, Andrea H. Németh, Valério Carelli, Taosheng Huang, Stephan Züchner, Julia E. Dallman - Nature Genetics 2015 被引用: 206
