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

Stephan Züchner の年別被引用数1990 年: 被引用 1 件2003 年: 被引用 15 件2004 年: 被引用 11 件2005 年: 被引用 33 件2006 年: 被引用 77 件2007 年: 被引用 60 件2008 年: 被引用 99 件2009 年: 被引用 131 件2010 年: 被引用 134 件2011 年: 被引用 177 件2012 年: 被引用 199 件2013 年: 被引用 234 件2014 年: 被引用 261 件2015 年: 被引用 265 件2016 年: 被引用 228 件2017 年: 被引用 323 件2018 年: 被引用 294 件2019 年: 被引用 912 件2020 年: 被引用 868 件2021 年: 被引用 887 件2022 年: 被引用 681 件2023 年: 被引用 487 件2024 年: 被引用 989 件2025 年: 被引用 445 件2026 年: 被引用 31 件1991〜2002 年は被引用が無いため表示していません

引用元

国・地域

この著者を引用した国・地域の世界地図アメリカ合衆国: 引用元論文 2,836 件、この内訳の 25%イギリス: 引用元論文 1,038 件、この内訳の 9.2%ドイツ: 引用元論文 752 件、この内訳の 6.6%イタリア: 引用元論文 682 件、この内訳の 6%中国: 引用元論文 658 件、この内訳の 5.8%フランス: 引用元論文 550 件、この内訳の 4.8%カナダ: 引用元論文 533 件、この内訳の 4.7%オーストラリア: 引用元論文 403 件、この内訳の 3.6%オランダ: 引用元論文 352 件、この内訳の 3.1%スペイン: 引用元論文 311 件、この内訳の 2.7%日本: 引用元論文 269 件、この内訳の 2.4%ベルギー: 引用元論文 242 件、この内訳の 2.1%
0%25%その他 24%

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

全論文

検索で開く
  1. Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  2. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , - Nature Genetics 2019 被引用: 581

  3. TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  4. Characterization and visualization of tandem repeats at genome scale

    著者: , , , , , , , , , , , , , , , , , , , , , , - Nature Biotechnology 2024 被引用: 125

  5. dSarm/Sarm1 Is Required for Activation of an Injury-Induced Axon Death Pathway

    著者: , , , , , , , , , , , , , , , , , , , , , - Science 2012 被引用: 724

  6. Validation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  7. Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , Thomas G. McWilliams, Michel Koenig, Robert W. Taylor - New England Journal of Medicine 2021 被引用: 194

  8. GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response

    著者: , , , , , , , , , , , , , , , , , , , , , , , , - Brain 2023 被引用: 114

  9. The Human Phenotype Ontology in 2017

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  10. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

    著者: , , , , , , , , , , , , , , , , , , , , , - Nature Genetics 2004 被引用: 1,562

  11. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  12. Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , - Scientific Reports 2023 被引用: 72

  13. CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , - Journal of Neurology Neurosurgery & Psychiatry 2014 被引用: 344

  14. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  15. Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

    著者: , , , , , , - Clinical and Translational Medicine 2024 被引用: 71

  16. Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia

    著者: , , , , , , , , , , , , , , , , , , , , , , , , - European Journal of Neurology 2023 被引用: 39

  17. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  18. Deep structured learning for variant prioritization in Mendelian diseases

    著者: , , , , , , - Nature Communications 2023 被引用: 43

  19. Frequency of GAA- FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia

    著者: , , , , , , , , , , , , , , , , , , , - Neurology Genetics 2023 被引用: 36

  20. GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort

    著者: , , , , , , , , , , , , , , , , - EBioMedicine 2024 被引用: 63

  21. Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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

  22. 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: , , , , , , , , , , , , , , , - Movement Disorders 2023 被引用: 24

  23. Regulation of the Epigenome by Vitamin C

    著者: , , - Annual Review of Nutrition 2015 被引用: 315

  24. Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

    著者: , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , 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