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Matthis Synofzik

hertie institute for clinical brain research

77H-index
753Paper Count
2.2WCitation Count
Published Papers 326
Publication Date
Data-driven mapping of known and novel fluid biomarker progression profiles in genetic frontotemporal lobar degeneration
err2026-08-11
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errOAAI
errJulie F. H. De Houwer; Wenjie Kang; Renee van Buuren; Liset de Boer; Tine Swartenbroekx; Ana Rajicic; Arabella Bouzigues; Lucy L. Russell; Phoebe H. Foster; Eve Ferry-Bolder; John C. van Swieten; Lize C. Jiskoot; Raquel Sanchez-Valle; Robert Laforce; Caroline Graff; Daniela Galimberti; Rik Vandenberghe; Alexandre de Mendonça; Pietro Tiraboschi; Isabel Santana; Alexander Gerhard; Johannes Levin; Benedetta Nacmias; Markus Otto; Maxime Bertoux; Thibaud Lebouvier; Simon Ducharme; Chris R. Butler; Isabelle Le Ber; Elizabeth Finger; Maria Carmela Tartaglia; Mario Masellis; James B. Rowe; Matthis Synofzik; Fermin Moreno; Barbara Borroni; Henrik Zetterberg; Yolande A. L. Pijnenburg; Charlotte Teunissen; Jonathan D. Rohrer; Stefan Klein; Elise G. Dopper; Esther E. Bron; Harro Seelaar
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Development and validation of the dysarthria impact scale: a patient-reported outcome for motor speech disorders
err2026-03-10
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errOAAI
errAdam P. Vogel; Lisa Graf; Merit Weiß; Cheuk S. J. Chan; Graham Hepworth; Matthis Synofzik
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Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia
err2026-02-14
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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
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The Cerebellar Cognitive-Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Large International Cross-Sectional Study
err2026-02-11
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errOAAI
errJulie Fortin PhD; Matthis Synofzik MD; Élyse-Anne Pedneault-Tremblay OT; Dominik Hermle; Andreas Thieme MD; Dagmar Timmann MD; Roberta La Piana MD, PhD; Bernard Brais MD, PhD; Justine Dolbec MS; Isabelle Côté MS; Cynthia Gagnon OT, PhD; Andreas Traschütz MD, PhD
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Individualized Atrophy-Based Prediction of Dementia Progression in Familial Frontotemporal Lobar Degeneration With Bayesian Linear Mixed-Effects Modeling
err2026-01-29
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errOAAI
errShubir Dutt PhD; Dana Leichter BS; Yann Cobigo PhD; Amy Wolf BS; John Kornak PhD; Annie Clark MS; Lucy L. Russell PhD; Arabella Bouzigues MSc; David M. Cash PhD; Martina Bocchetta PhD; Molly Olzinski BS; Brian Appleby MD; Ece Bayram MD, PhD; Barbara Borroni MD; Andrea Bozoki MD; Chris R. Butler PhD; David Clark MD; Rhian S. Convery MSc; R. Ryan Darby MD; Alexandre de Mendonça PhD; Bradford Dickerson MD; Kimiko Domoto-Reilly MD; Simon Ducharme MD; Eve Ferry-Bolder BA; Elizabeth Finger MD; Phoebe H. Foster BSc; Douglas R. Galasko MD; Daniela Galimberti PhD; Alexander Gerhard MD; Nupur Ghoshal MD; Caroline Graff PhD; Neill Graff-Radford MD; Ian M. Grant MD; Chadwick M. Hales MD, PhD; Lawrence S. Honig MD, PhD; Ging-Yuek Hsiung MD; Edward D. Huey MD; David Irwin MD; Lize C. Jiskoot PhD; Walter Kremers PhD; Justin Y. Kwan MD; Robert Laforce MD; Isabelle Le Ber PhD; Gabriel C. Léger MD; Johannes Levin MD; Irene Litvan MD, MSc; Ian R. Mackenzie MD; Mario Masellis PhD; Mario F. Mendez MD, PhD; Fermin Moreno PhD; Chiadi Onyike MD, MHS; Markus Otto MD; Belen Pascual PhD; Peter Pressman MD; Rosa Rademakers PhD; Eliana Marisa Ramos PhD; Aaron Ritter MD; Erik D. Roberson MD, PhD; James B. Rowe PhD; Raquel Sanchez-Valle MD; Isabel Santana PhD; Harro Seelaar PhD; Allison Snyder MD; Sandro Sorbi PhD; Matthis Synofzik MD; Maria Carmela Tartaglia MD; Pietro Tiraboschi MD; John C. van Swieten MD, PhD; Marijne Vandebergh PhD; Rik Vandenberghe MD; Hilary W. Heuer PhD; Bruce L. Miller MD; William W. Seeley MD; Maria Luisa Gorno-Tempini MD; Joel H. Kramer PsyD; Leah Forsberg PhD; Kejal Kantarci MD; Bradley F. Boeve MD; Adam L. Boxer MD, PhD; Jonathan D. Rohrer PhD; Howard J. Rosen MD; Adam M. Staffaroni PhD; FTD Prevention Initiative (FPI) investigators
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Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points
err2026-01-22
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errOAAI
errMarcus Grobe-Einsler; Vivian Maas; Arian Taheri Amin; Jennifer Faber; Tamara Schaprian; Katharina Hill; Matthis Synofzik; Lisa H. Graf; Heike Jacobi; Manuela Lima; Ana F. Ferreira; Bart P. van de Warrenburg; Ilse H. J. Willemse; Dagmar Timmann; Andreas Thieme; Paola Giunti; Hector Garcia-Moreno; Magda M. Santana; Jeannette Hübener-Schmid; Elin H. Davies; Thomas Klockgether
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The <i>RAB3A</i> hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrum
errBrain
IF11.7
err2026-01-02
err0
PREAI
errJohanna R Roller; Ashraf Yahia; Giovanni Stevanin; Ammar E Ahmed; Amna M T Alawadhi; Mohammed Almannai; Maryam Y Busehail; Alexander H Choi; Ali A Elhassan; Liena E O Elsayed; Christina Goode; Lauren H Hammer; Christina Laukaitis; Amber Begtrup; Rachel A Paul; Jasmin Roohi; Hoda Y Tomoum; Peter Bauer; Ludger Schöls; Jorge P Basto; Matthis Synofzik; Holger Hengel
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CSF biomarkers of neuroinflammation are associated with regional atrophy
err2025-12-24
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errOAAI
errSerap Özlü; Martin Dyrba; Alice Grazia; Frederic Brosseron; Katharina Buerger; Peter Dechent; Emrah Düzel; Michael Ewers; Klaus Fliessbach; Wenzel Glanz; Niels Hansen; Julian Hellmann-Regen; Stefan Hetzer; Daniel Janowitz; Ingo Kilimann; Marie Kronmüller; Christoph Laske; Falk Lüsebrink; David Mengel; Robert Perneczky; Oliver Peters; Josef Priller; Alfredo Ramirez; Boris-Stephan Rauchmann; Ayda Rostamzadeh; Anja Schneider; Sebastian Sodenkamp; Annika Spottke; Eike Jakob Spruth; Matthis Synofzik; Jens Wiltfang; Michael T Heneka; Frank Jessen; Stefan Teipel
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Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment
err2025-12-23
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errOAAI
errHannah Baumeister; Philipp Wegner; Mónica Ferreira; Tamara Schaprian; Marcondes C. França; Thiago Junqueira Ribeiro Rezende; Alberto Rolim Muro Martinez; Hong Jiang; Zhao Chen; Liao Weihua; Marcus Grobe-Einsler; Berkan Koyak; Demet Önder; Bart van de Warrenburg; Judith van Gaalen; Alexandra Durr; Giulia Coarelli; Matthis Synofzik; Ludger Schöls; Paola Giunti
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Feasibility of a smartphone application for remote use in spastic ataxias: an 8-week long-term PROSPAX study
err2025-12-04
err0
PREAI
errIlse H. J. Willemse; Sabato Mellone; Carlo Tacconi; Filippo M. Santorelli; Ivana Ricca; Sara Satolli; Stephan Klebe; Nicole Jeschonneck; Winfried Ilg; Rebecca Schüle; Matthis Synofzik; Jorik Nonnekes; Bart P. C. van de Warrenburg
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A new FTLD-TDP subtype with annexin A11 co-pathology
err2025-11-28
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PREAI
errManuela Neumann; Marleen Van den Broeck; Sarah Wynants; Simon Cheung; Johannes Prudlo; Andreas Hermann; Matthis Synofzik; Hannah Briemberg; Ging-Yuek R. Hsiung; Rosa Rademakers; Ian R. A. Mackenzie
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Neurodevelopmental effects of genetic frontotemporal dementia mutations revealed by total intracranial volume differences
err2025-11-19
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errOAAI
errIsis So; Arabella Bouzigues; Lucy L Russell; Phoebe H Foster; Eve Ferry-Bolder; John C van Swieten; Lize C Jiskoot; Harro Seelaar; Raquel Sanchez-Valle; Robert Laforce; Caroline Graff; Daniela Galimberti; Rik Vandenberghe; Alexandre de Mendonça; Pietro Tiraboschi; Isabel Santana; Alexander Gerhard; Johannes Levin; Sandro Sorbi; Markus Otto; Florence Pasquier; Simon Ducharme; Chris R Butler; Isabelle Le Ber; Maria Carmela Tartaglia; Mario Masellis; James B Rowe; Matthis Synofzik; Fermin Moreno; Barbara Borroni; Tyler Kolander; Carly Mester; Danielle Brushaber; Kejal Kantarci; Hilary W Heuer; Leah K Forsberg; Jonathan D Rohrer; Bradley F Boeve; Adam L Boxer; Howard J Rosen; Elizabeth C Finger
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An unsupervised XAI framework for dementia detection with context enrichment
err2025-11-12
err0
errOAAI
errDevesh Singh; Yusuf Brima; Fedor Levin; Martin Becker; Bjarne Hiller; Andreas Hermann; Irene Villar-Munoz; Lukas Beichert; Alexander Bernhardt; Katharina Buerger; Michaela Butryn; Peter Dechent; Emrah Düzel; Michael Ewers; Klaus Fliessbach; Silka D. Freiesleben; Wenzel Glanz; Stefan Hetzer; Daniel Janowitz; Doreen Görß; Ingo Kilimann; Okka Kimmich; Christoph Laske; Johannes Levin; Andrea Lohse; Falk Luesebrink; Matthias Munk; Robert Perneczky; Oliver Peters; Lukas Preis; Josef Priller; Johannes Prudlo; Diana Prychynenko; Boris S. Rauchmann; Ayda Rostamzadeh; Nina Roy-Kluth; Klaus Scheffler; Anja Schneider; Louise Droste zu Senden; Björn H. Schott; Annika Spottke; Matthis Synofzik; Jens Wiltfang; Frank Jessen; Marc-André Weber; Stefan J. Teipel; Martin Dyrba
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Cross-country variance in facial emotion recognition in presymptomatic and symptomatic behavioral variant frontotemporal dementia: Insights from the GENFI and ReDLat consortia
err2025-10-14
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errOAAI
errLiset de Boer; Lize C. Jiskoot; Harro Seelaar; John C. van Swieten; Agustin Ibanez; Marcelo Maito; Sol Fittipaldi; Julie F. H. De Houwer; Tine Swartenbroekx; Pam A. Boesjes; Rhian S. Convery; Eve Ferry-Bolder; Phoebe Foster; Arabella Bouzigues; Lucy Chisman-Russell; Esther van den Berg; Janne Papma; Sanne Franzen; Renelle Bourdage; James B. Rowe; Barbara Borroni; Daniela Galimberti; Pietro Tiraboschi; Mario Masellis; Elizabeth Finger; Robert Laforce; Caroline Graff; Alexander Gerhard; Raquel Sanchez-Valle; Alexandre Mendonça; Fermin Moreno; Matthis Synofzik; Rik Vandenberghe; Simon Ducharme; Isabelle Le Ber; Johannes Levin; Thibaud Lebouvier; Benedetta Nacmias; Markus Otto; Christopher R. Butler; Isabel Santana; Maxime Bertoux; M. Carmela Tartaglia; Jonathan D. Rohrer; Jackie M. Poos; the GENFI Consortium
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Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: a retrospective cohort study
err2025-10-11
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PREAI
errDavid Cheerie; Marlen C. Lauffer; Logan Newton; Kimberly Amburgey; Danique Beijer; Bushra Haque; Brian T. Kalish; Margaret Meserve; Rachel Y. Oh; Amy Y. Pan; Miriam S. Reuter; Michael J. Szego; Anna Szuto; Annemieke Aartsma-Rus; Michelle M. Axford; Ashish R. Deshwar; James J. Dowling; Christian R. Marshall; Zhenya Ivakine; Matthis Synofzik; Timothy W. Yu; Gregory Costain
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Cortical microstructure is associated with disease severity and clinical progression in genetic frontotemporal dementia: a GENFI study
err2025-10-09
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errOAAI
errElena Rodriguez-Vieitez; Melissa T. Rydell; Abbe Ullgren; Victor Montal; Ignacio Illán-Gala; Juan Fortea; Vesna Jelic; Arabella Bouzigues; Lucy L. Russell; Phoebe H. Foster; Eve Ferry-Bolder; John C. van Swieten; Lize C. Jiskoot; Harro Seelaar; Raquel Sanchez-Valle; Robert Laforce; Daniela Galimberti; Rik Vandenberghe; Alexandre de Mendonça; Pietro Tiraboschi; Isabel Santana; Alexander Gerhard; Johannes Levin; Sandro Sorbi; Markus Otto; Florence Pasquier; Simon Ducharme; Chris R. Butler; Isabelle Le Ber; Elizabeth Finger; Maria Carmela Tartaglia; Mario Masellis; James B. Rowe; Matthis Synofzik; Fermin Moreno; Barbara Borroni; Jonathan D. Rohrer; Eric Westman; Caroline Graff
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White matter hyperintensities precede other biomarkers in GRN frontotemporal dementia
err2025-10-07
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errOAAI
errMahdie Soltaninejad; Mahsa Dadar; D. Louis Collins; Reza Rajabli; Vikram Venkatraghavan; Arabella Bouzigues; Lucy L. Russell; Phoebe H. Foster; Eve Ferry-Bolder; John C. van Swieten; Lize C. Jiskoot; Harro Seelaar; Raquel Sanchez-Valle; Robert Laforce; Caroline Graff; Daniela Galimberti; Rik Vandenberghe; Alexandre de Mendonça; Pietro Tiraboschi; Isabel Santana; Alexander Gerhard; Johannes Levin; Benedetta Nacmias; Markus Otto; Maxime Bertoux; Thibaud Lebouvier; Chris R. Butler; Isabelle Le Ber; Elizabeth Finger; Maria Carmela Tartaglia; Mario Masellis; James B. Rowe; Matthis Synofzik; Fermin Moreno; Barbara Borroni; Jonathan D. Rohrer; Yasser Iturria-Medina; Simon Ducharme; GENFI Consortium
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Anatomical progression of genetic frontotemporal lobar degeneration across the lifespan
errBRAIN
IF11.7
err2025-10-01
err4
PREAI
errPlanche, Vincent; Mansencal, Boris; Fonov, Vladimir; Manjon, Jose, V; Tourdias, Thomas; Bouzigues, Arabella; Russell, Lucy L.; Foster, Phoebe H.; Ferry-Bolder, Eve; van Swieten, John C.; Jiskoot, Lize C.; Seelaar, Harro; Sanchez-Valle, Raquel; Laforce, Robert; Graff, Caroline; Galimberti, Daniela; Vandenberghe, Rik; de Mendonca, Alexandre; Tiraboschi, Pietro; Santana, Isabel; Gerhard, Alexander; Levin, Johannes; Sorbi, Sandro; Otto, Markus; Bertoux, Maxime; Lebouvier, Thibaud; Butler, Chris R.; Le Ber, Isabelle; Finger, Elizabeth; Tartaglia, Maria Carmela; Masellis, Mario; Rowe, James B.; Synofzik, Matthis; Moreno, Fermin; Borroni, Barbara; Rohrer, Jonathan D.; Collins, D. Louis; Ducharme, Simon; Coupe, Pierrick; ALLFTD Consortium; Genetic FTD Initiative GENFI
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Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort
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
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Digital Outcomes of Upper Limb Ataxia Capture Meaningful Longitudinal Change and Treatment Response
err2025-09-01
err0
errOAAI
errDominik Hermle MD; Robin Schubert MSc; Pascal Barallon MSc; Winfried Ilg PhD; Rebecca Schüle MD; Ralf Reilmann MD; Matthis Synofzik MD; Andreas Traschütz MD, PhD
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