logo
CanyamAI summaries for academic research
language
MobileMobile
  • Phone FeatureWeChat Mini Program
EnglishEnglish
noticeNotice
BlogBlog
delete
arrow
Back
S

Stephan Züchner

university of miami

76H-index
420Paper Count
2.2WCitation Count
Published Papers 189
Publication Date
logo
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
errNature Communications
IF15.7
err2026-02-14
err0
errOAAI
errBenita Menden; Rana D. Incebacak Eltemur; German Demidov; Marc Sturm; Joohyun Park; Chrisovalantou Huridou; Florian Fath; Astrid Nümann; Alexander Baumann; Illja J. Diets; Claudia Dufke; Martin Regensburger; Maria Rönnefarth; Vera Wilke; Nienke van Os; Stefan Vielhaber; Tim W. Rattay; Zacharias Kohl; Susana Peralta; Priscila Pereira Sena; Melanie Kellner; Nadine Weissert; Andreas Traschütz; Lena Zeltner; Kai Boelmans; Natalie Deininger; Leon Schütz; Caspar Gross; Ana Beatriz Hinojosa Amaya; Katrin Raupach; Holger Hengel; Florian Harmuth; Jakob Admard; Ingrid Bader; Sarah Baumann; Friedemann Bender; Andrea Bevot; Almut Bischoff; Felix Boschann; Rebecca Buchert; Daniel Buchzik; Nicolas Casadei; Claudia B. Catarino; Isabell Cordts; Kirsten Cremer; Marion Doebler-Neumann; Nadja Ehmke; Miriam Elbracht; Ruth J. Falb; Thomas Feindt; Zofia Fleszar; Lea Gerstner; Dieter Gläser; Ute Grasshoff; Sarah Grosch; Kathrin Grundmann; Alexander Gutschalk; Manja Haaga; Stefanie Hayer; Ute Hehr; Yorck Hellenbroich; Wolfram Henn; Barbara Herr; Rebecca Herzog; Veronka Horber; Jonas Deppe; Nadja Kaiser; Christiane Kehrer; Martin Kehrer; Jan Kern; Christoph Keßler; Katharina Khuller; Hannah Klinkhammer; Urania Kotzaeridou; Peter Krawitz; Martina Kreiss; Hanna Küpper; Alice Kuster; Lucia Laugwitz; Anne Lesemann; Nadine Lichey; Tobias Linden; Boris Macek; Janine Magg; Elisabeth Mangold; Eva Manka; Iris Marquardt; Karl Mehnert; David Mengel; Susanne Morlot; Barbara Oehl-Jaschkowitz; Martje G. Pauly; Melanie Philipp; Florentine Radelfahr; Maren Rautenberg; Angelika Riess; Carsten Saft; Beate Schlotter-Weigel; Axel Schmidt; Eva M. C. Schwaibold; Veronika Spahlinger; Stephanie Spranger; Katharina Marie Steiner; Claudia Stendel; Andreas Thieme; Andreas Tzschach; Ana Velic; Sarah Wiethoff; Carlo Wilke; Stephan Züchner; Simone Zittel; Ralf A. Husain; Marcus Deschauer; Felix Distelmaier; Andreas Dufke; Holm Graessner; Bernhard Hemmer; Heike Jacobi; Thomas Klockgether; Thomas Klopstock; Xenia Kobeleva; Georg-Christoph Korenke; Alma Kuechler; Gregor Kuhlenbäumer; Ingo Kurth; Huu Phuc Nguyen; Gilbert Wunderlich; Kirsten E. Zeuner; Stephan Klebe; Michaela Auer-Grumbach; Michaela Butryn; Jürgen Winkler; Dagmar Timmann; Matthis Synofzik; Bart van de Warrenburg; Rebecca Schüle; Ludger Schöls; Stephan Ossowski; Olaf Riess; Jonasz J. Weber; Tobias B. Haack
errShare
errSave
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
errBRAIN
IF11.7
err2025-12-01
err0
errOAAI
errArmirola-Ricaurte, Camila; Morant, Laura; Adant, Isabelle; Hamed, Sherifa A.; Pipis, Menelaos; Efthymiou, Stephanie; Amor-Barris, Silvia; Atkinson, Derek; Van de Vondel, Liedewei; Tomic, Aleksandra; Seneca, Sara; de Vriendt, Els; Zuchner, Stephan; Ghesquiere, Bart; Hanna, Michael G.; Houlden, Henry; Lunn, Michael P.; Reilly, Mary M.; Rasic, Vedrana Milic; Jordanova, Albena
errShare
errSave
Charcot-Marie-Tooth–SORD: insights into pathology and pathophysiology from a human nerve biopsy series
errBrain
IF11.7
err2025-11-05
err0
PREAI
errMaike F Dohrn; Davide Pareyson; Chiara Pisciotta; Heike Kölbel; Andreas Roos; Gian Maria Fabrizi; Arman Cakar; Yesim Parman; Stephan Züchner; Joachim Weis
errShare
errSave
A Complex FGF14 (TTC)/(TGC) Repeat Expansion in Parkinson's Disease
errMOVEMENT DISORDERS
IF7.6
err2025-11-01
err0
PREAI
errZheng, Xiaosheng; Cen, Zhidong; Chen, Xinhui; Zhang, Fan; Ying, Chenxin; Jin, Nan; Liu, Peng; Chen, Yilin; Wang, Haotian; Li, Jiaxiang; Trinh, Joanne; Lass, Joshua; Pellerin, David; Danzi, Matt C.; Zuchner, Stephan; Brais, Bernard; Lim, Shen-yang; Tan, Ai Huey; Ahmad-Annuar, Azlina; Yang, Dehao; Wang, Lebo; Lin, Zhiru; Xie, Fei; Wang, Bo; Wu, Sheng; Ouyang, Zhiyuan; Chan, Piu; Hu, Shen; Klein, Christine; Zheng, Hou-Feng; Wang, Chaodong; Luo, Wei
errShare
errSave
Long-term response to aminopyridines in a cohort of patients with ataxia associated with downbeat nystagmus due to the FGF14 GAA expansion
errNeurología
IF3.1
err2025-10-10
err0
errOAAI
errE. Muñoz; M. De la Cruz-Puebla; D. Pellerin; C. Painous; M.I. Álvarez-Mora; M.J. Dicaire; L. Rodríguez-Revenga; M.C. Danzi; S. Zuchner; B. Brais
errShare
errSave
Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort
errJOURNAL OF NEUROLOGY
IF4.6
err2025-09-20
err0
errOAAI
errIruzubieta, Pablo; Pellerin, David; Ashton, Catherine; Villa, Felipe; Renaud, Mathilde; Dicaire, Marie-Josee; Danzi, Matt C.; Aldecoa, Mayra; Mathieu, Jean; Massie, Rami; Chalk, Colin H.; Lafontaine, Anne-Louise; Evoy, Francois; Rioux, Marie-France; Brisson, Jean-Denis; Boycott, Kym M.; Houlden, Henry; Synofzik, Matthis; La Piana, Roberta; Zuchner, Stephan; Duquette, Antoine; Brais, Bernard
errShare
errSave
Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties
errHuman Genetics and Genomics Advances
IF3.6
err2025-09-18
err0
PREAI
errSheila M. Peeples; Keyana Blake; Brendan L.M. Sutton; Marina Konyukh; Stephan Züchner; Tanya Stojkovic; Jonathan Baets; Anthony Antonellis
errShare
errSave
GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications
errMovement Disorders
IF7.6
err2025-08-19
err0
errOAAI
errElisabetta Indelicato MD, PhD; Zofia Fleszar MD; David Pellerin MD; Wolfgang Nachbauer MD, PhD; Stephan Zuchner MD, PhD; Andreas Traschütz MD; Matthias Amprosi MD; Ludger Schöls MD; Tobias B. Haack MD; Bernard Brais MD, PhD; Sylvia Boesch MD; Matthis Synofzik MD
errShare
errSave
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
errBRAIN
IF11.7
err2025-08-01
err3
errOAAI
errCortese, Andrea; Dohrn, Maike F.; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J.; Fernandez-Eulate, Gorka; Haddad, Saif; Laura, Matilde; Rossor, Alexander M.; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N.; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F.; Achenbach, Pascal; Schone, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D.; Winter, Natalie; Creigh, Peter D.; Sowden, Janet E.; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K. L.; Brennan, Kathryn M.; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R.; Kennerson, Marina L.; Kayserili, Hulya; Amado, Defne A.; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J.; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C.; Lee, Yi-Chung; Basak, Ayse N.; Hamed, Sherifa A.; Rojas-Garcia, Ricardo; Claeys, Kristl G.; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N.; Scherer, Steven S.; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E.; Zuchner, Stephan
errShare
errSave
Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series
errJournal of Neurology
IF4.6
err2025-07-10
err0
PREAI
errArmand Hocquel; David Pellerin; Jean loup Méreaux; Vincent Huin; Marios Hadjivassiliou; Guillemette Clément; Felipe Villa; Salomé Puisieux; Solène Frismand; Marion Wandzel; Virginie Roth; Anna Wissocq; Thomas Wirth; Matt C. Danzi; Isabelle Quadrio; Stephan Zuchner; Laetitia Lambert; Fanny Mochel; Matthis Synofzik; Mathieu Anheim; Henry Houlden; Alexis Brice; Carine Pourié; Bernard Brais; Céline Bonnet; Alexandra Durr; Mathilde Renaud
errShare
errSave
Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants
errBrain
IF11.7
err2025-06-09
err0
PREAI
errKailee S Ward; Christopher P Ptak; Natalya Pashkova; Tiffany Grider; Tabitha A Peterson; Davide Pareyson; Chiara Pisciotta; Paola Saveri; Isabella Moroni; Matilde Laura; Joshua Burns; Manoj P Menezes; Kayla Cornett; Richard Finkel; Bipasha Mukherjee-Clavin; Charlotte J Sumner; Maxwell Greene; Omer Abdul Hamid; David Herrmann; Reza Sadjadi; David Walk; Stephan Züchner; Mary M Reilly; Steven S Scherer; Inherited Neuropathy Consortium; Robert C Piper; Michael E Shy
errShare
errSave
Biallelic variants in the RFC4 gene cause a rapidly progressive congenital myopathy with severe hypotonia and axial weakness
errNEUROMUSCULAR DISORDERS
IF2.8
err2025-06-01
err0
PREAI
errLauerova, Barbora; Dolanska, Anezka; Lassuthova, Petra; Stanclova, Denisa; Rohlenova, Marie; Morimoto, Marie; Zuchner, Stephan; Xu, Isaac R. L.; Rebelo, Adriana; Haberlova, Jana
errShare
errSave
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism
errBRAIN
IF11.7
err2025-06-01
err2
PREAI
errHengel, Holger; Hannan, Shabab B.; Reich, Selina; Beijer, Danique; Roller, Johanna; Gilsbach, Bernd K.; Gloeckner, Christian Johannes; Greene, Daniel; Timmann, Dagmar; Depienne, Christel; Mumford, Andrew; O'Driscoll, Mary; Nemeth, Andrea H.; Lundberg, Julie; Rodan, Lance H.; Bruel, Ange-Line; Delanne, Julian; Deconinck, Tine; Baets, Jonathan; Gan-Or, Ziv; Rouleau, Guy; Suchowersky, Oksana; Estiar, Mehrdad A.; Reich, Stephen; Toro, Camilo; Zuechner, Stephan; Hazan, Jamile; Petursson, Hjoervar; Harmuth, Florian; Bauer, Claudia; Bauer, Peter; Turro, Ernest; Lambright, David; Schoels, Ludger; Synofzik, Matthis
errShare
errSave
Genetic ancestry and population structure in the All of Us Research Program cohort
errNATURE COMMUNICATIONS
IF15.7
err2025-05-03
err0
errOAAI
errSharma, Shivam; Nagar, Shashwat Deepali; Pemu, Priscilla; Zuchner, Stephan; Marino-Ramirez, Leonardo; Jordan, I. King
errShare
errSave
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort
errEBIOMEDICINE
IF10.8
err2025-05-01
err0
PREAI
errBeijer, Danique; Mengel, David; Onder, Demet; Wilke, Carlo; Traschuetz, Andreas; Faber, Jennifer; Timmann, Dagmar; Boesch, Sylvia; Vielhaber, Stefan; Klopstock, Thomas; Warrenburg, Bart P. van de; Silvestri, Gabriella; Kamm, Christoph; Wedding, Iselin Marie; Fleszar, Zofia; Harmuth, Florian; Dufke, Claudia; Brais, Bernard; Riess, Olaf; Schoels, Ludger; Haack, Tobias; Zuechner, Stephan; Pellerin, David; Klockgether, Thomas; Synofzik, Matthis
errShare
errSave
Intronic <i>FGF14</i> GAA repeat expansions impact progression and survival in multiple system atrophy
errBrain
IF11.7
err2025-04-16
err0
errOAAI
errViorica Chelban; David Pellerin; Nirosen Vijiaratnam; Hamin Lee; Yen Yee Goh; Lauren Brown; Sara Sambin; Danielle Seilhean; Stephane Lehericy; Pablo Iruzubieta; Rahema Mohammad; Eleanor Self; Annarita Scardamaglia; Cameron Lee; Miriama Ostrozovicova; Marie-Josée Dicaire; Christine Girges; Emil K Gustavsson; David Murphy; Toby Curless; Joshua Laß; Joanne Trinh; Timothy Rittman; James B Rowe; Marios Hadjivassiliou; Neil Archibald; Matt C Danzi; Catherine Ashton; Virginie Roth; Marion Wandzel; Warren A Cheung; Djordje O Gveric; Bart De Vil; Jordan Follett; P Nigel Leigh; Lukas Beichert; Tomi Pastinen; Céline Bonnet; Mathilde Renaud; Wassilios G Meissner; Anne Sieben; David Crosiers; Patrick Cras; Stephan Zuchner; Jean-Christophe Corvol; Matthew J Farrer; Matthis Synofzik; Bernard Brais; Tom Warner; Huw R Morris; Zane Jaunmuktane; Tom Foltynie; Henry Houlden
errShare
errSave
The continued promise of genomic technologies and software in neurogenetics
errJOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
err2025-04-10
err0
PREAI
errIsaac R L Xu; Matt C Danzi; Jacquelyn Raposo; Stephan Züchner
errShare
errSave
Involvement of the Superior Cerebellar Peduncles in GAA-FGF14 Ataxia
errNEUROLOGY-GENETICS
IF3.7
err2025-04-01
err1
errOAAI
errChen, Shihan; Ashton, Catherine; Sakalla, Rawan; Clement, Guillemette; Planel, Sophie; Bonnet, Celine; Lamont, Phillipa J.; Kulanthaivelu, Karthik; Nalini, Atchayaram; Houlden, Henry; Duquette, Antoine; Dicaire, Marie-Josee; Iruzubieta Agudo, Pablo; Ruiz-Martinez, Javier; Marco De Lucas, Enrique; Sutil Berjon, Rodrigo; Infante Ceberio, Jon; Indelicato, Elisabetta; Boesch, Sylvia M.; Synofzik, Matthis; Bender, Benjamin; Danzi, Matt C.; Zuchner, Stephan; Pellerin, David; Brais, Bernard; Renaud, Mathilde; La Piana, Roberta
errShare
errSave
The Spastic Paraplegia-Centers of Excellence Research Network (SP-CERN)
errNEUROLOGY-GENETICS
IF3.7
err2025-04-01
err0
PREAI
errSchierbaum, Luca; Quiroz, Vicente; Yang, Kathryn; Rong, Joshua; Battaglia, Nicole; Zubair, Umar; Christie, Michelle; Davis, Marie; Calame, Daniel; Danzi, Matt C.; Finkel, Richard S.; Burns, Joshua; Gilbert, Donald L.; Mingbunjerdsuk, Dararat; Pruitt, Greg; Pruitt, Norma; Cobb, John; Sadjadi, Reza; Cashman, Christopher R.; Blackstone, Craig; Fink, John K.; Shy, Michael E.; Zuchner, Stephan; Ebrahimi-Fakhari, Darius
errShare
errSave
Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients
errJOURNAL OF NEUROLOGY
IF4.6
err2025-03-01
err0
PREAI
errGenis, David; Alemany, Berta; Pellerin, David; Brais, Bernard; Dicaire, Marie-Josee; Volpini, Victor; Campos, Berta; Corral, Jordi; Gardenyes, Josep; de Jorge, Laura; San Nicolas, Hector; Buxo, Maria; Sancho, Joan Martinez; Obon, Maria; Roig, Carles; Rodriguez-Revenga, Laia; Alvarez-Mora, Maria Isabel; Danzi, Matt C.; Houlden, Henry; Zuchner, Stephan; Marquez, Fabian; Torrenta, Lluis
errShare
errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
D
Dennis W. Dickson
H-index: 218 · Papers: 2.3K
R
Ronald C. Petersen
H-index: 205 · Papers: 2.0K
D
David S. Knopman
H-index: 188 · Papers: 2.1K
T
Thomas Meitinger
H-index: 168 · Papers: 957
P
Philippe Froguel
H-index: 163 · Papers: 1.2K
View more