Matthis Synofzik (M Synofzik)

ORCID

Publication Activity (10 Years)

Years Active: 2014-2023
Publications (10 Years): 96

Top Venues

Movement disorders : official journal of the Movement Disorder Society

Brain communications

Journal of neurology, neurosurgery, and psychiatry

Brain : a journal of neurology

Hertie-Institute for Clinical Brain Research

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Hertie-Institute for Clinical Brain Research

Germany

Professor :: Department of Neurodegenerative Diseases

Publications

Demet Oender, Jennifer Faber, Carlo Wilke, Tamara Schaprian, Asadeh Lakghomi, David Mengel, Ludger Schöls, Andreas Traschütz, Zofia Fleszar, Claudia Dufke, Stefan Vielhaber, Judith Machts, Ilaria Giordano, Marcus Grobe-Einsler, Thomas Klopstock, Claudia Stendel, Sylvia Boesch, Wolfgang Nachbauer, Dagmar Timmann-Braun, Andreas Gustafsson Thieme, Christoph Kamm, Ales Dudesek, Chantal Tallaksen, Iselin Wedding, Alessandro Filla, Matthias Schmid, Matthis Synofzik, Thomas Klockgether
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia. Movement disorders : official journal of the Movement Disorder Society (2023)
Carlo Wilke, David Pellerin, David Mengel, Benjamin Bender, Matt C Danzi, Marie-Josée Dicaire, Manuela Neumann, Holger Lerche, Benjamin Bender, Henry Houlden, null null, Ludger Schöls, Bernard Brais, Matthis Synofzik
GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response. Brain : a journal of neurology (2023)
Martina Bocchetta, Emily G Todd, Arabella Bouzigues, David M Cash, Jennifer M Nicholas, Rhian S Convery, Lucy L Russell, David L Thomas, Ian B Malone, Juan Eugenio Iglesias, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Barbara Borroni, Daniela Galimberti, Raquel Sanchez-Valle, Robert Laforce, Fermin Moreno, Matthis Synofzik, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Rik Vandenberghe, Elizabeth Finger, Fabrizio Tagliavini, Alexandre de Mendonça, Isabel Santana, Chris R Butler, Simon Ducharme, Alexander Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Sandro Sorbi, Isabelle Le Ber, Florence Pasquier, Jonathan D Rohrer, null null
Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: findings from the GENetic Frontotemporal dementia Initiative cohort. Brain communications 5 (2) (2023)
David Pellerin, Felix Heindl, Carlo Wilke, Matt C Danzi, Andreas Traschütz, Catherine Ashton, Marie-Josée Dicaire, Alexanne Cuillerier, Giulia Del Gobbo, Kym M Boycott, Jens Claassen, Dan Rujescu, Annette M Hartmann, Stephan Zuchner, Bernard Brais, Michael Strupp, Matthis Synofzik
Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response. medRxiv : the preprint server for health sciences (2023)
Marcus Grobe-Einsler, Jennifer Faber, A Taheri, J Kybelka, J Raue, J Volkening, F Helmhold, Matthis Synofzik, T Klockgether
SARA speech -Feasibility of automated assessment of ataxic speech disturbance. NPJ digital medicine 6 (1) (2023)
Marcus Grobe-Einsler, Jennifer Faber, A Taheri, J Kybelka, J Raue, J Volkening, F Helmhold, Matthis Synofzik, T Klockgether
SARA speech -Feasibility of automated assessment of ataxic speech disturbance. NPJ digital medicine 6 (1) (2023)
Arian Taheri Amin, Jennifer Faber, Demet Önder, Okka Kimmich, Matthis Synofzik, Tetsuo Ashizawa, Thomas Klockgether, Marcus Grobe-Einsler
Comparison of Live and Remote Video Ratings of the Scale for Assessment and Rating of Ataxia. Movement disorders clinical practice 10 (9) (2023)
Andreas Traschütz, Astrid D Adarmes-Gomez, Mathieu Anheim, Jonathan Baets, Björn H Falkenburger, Janina Gburek-Augustat, Sarah Doss, Christoph Kamm, Peter Klivenyi, Marcus Grobe-Einsler, Thomas Klopstock, Martina Minnerop, Alexander Münchau, Chiara Pane, Mathilde Renaud, Filippo M Santorelli, Ludger Schöls, Dagmar Timmann, Stefan Vielhaber, Tobias B Haack, Bart P van de Warrenburg, Ginevra Zanni, Matthis Synofzik
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients. Movement disorders : official journal of the Movement Disorder Society (2023)
Zofia Fleszar, Claudia Dufke, Marc Sturm, Rebecca Schüle, Ludger Schöls, Tobias B Haack, Matthis Synofzik
Short-read genome sequencing allows 'en route' diagnosis of patients with atypical Friedreich ataxia. Journal of neurology (2023)
David Mengel, Isabel G Wellik, Kristen H Schuster, Sabrina I Jarrah, Madeleine Wacker, Naila S Ashraf, Gülin Öz, Matthis Synofzik, Maria do Carmo Costa, Hayley S McLoughlin
Blood levels of neurofilament light are associated with disease progression in a mouse model of spinocerebellar ataxia type 3. Disease models & mechanisms 16 (9) (2023)
Kiran Samra, Amy Macdougall, Georgia Peakman, Arabella Bouzigues, Martina Bocchetta, David M Cash, Caroline V Greaves, Rhian S Convery, John Cornelis van Swieten, Lize C Jiskoot, Harro Seelaar, Fermin Moreno, Raquel Sánchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James Benedict Rowe, Barbara Borroni, Elizabeth C Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonca, Christopher R Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Pietro Tiraboschi, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan Daniel Rohrer, Lucy L Russell, null null, null null
Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales. Journal of neurology, neurosurgery, and psychiatry (2023)
Kiran Samra, Amy M MacDougall, Arabella Bouzigues, Martina Bocchetta, David M Cash, Caroline V Greaves, Rhian S Convery, Chris Hardy, John C van Swieten, Harro Seelaar, Lize C Jiskoot, Fermin Moreno, Raquel Sanchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Chris R Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jason D Warren, Jonathan D Rohrer, Lucy L Russell, null null
Genetic forms of primary progressive aphasia within the GENetic Frontotemporal dementia Initiative (GENFI) cohort: comparison with sporadic primary progressive aphasia. Brain communications 5 (2) (2023)
David Mengel, Isabel G Wellik, Kristen H Schuster, Sabrina I Jarrah, Madeleine Wacker, Naila S Ashraf, Gülin Öz, Matthis Synofzik, Maria do Carmo Costa, Hayley S McLoughlin
Blood neurofilament light chain levels are associated with disease progression in a transgenic SCA3 mouse model. bioRxiv : the preprint server for biology (2023)
David Mengel, Isabel G Wellik, Kristen H Schuster, Sabrina I Jarrah, Madeleine Wacker, Naila S Ashraf, Gülin Öz, Matthis Synofzik, Maria do Carmo Costa, Hayley S McLoughlin
Blood neurofilament light chain levels are associated with disease progression in a transgenic SCA3 mouse model. bioRxiv : the preprint server for biology (2023)
Martina Bocchetta, Emily G Todd, Arabella Bouzigues, David M Cash, Jennifer M Nicholas, Rhian S Convery, Lucy L Russell, David L Thomas, Ian B Malone, Juan Eugenio Iglesias, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Barbara Borroni, Daniela Galimberti, Raquel Sanchez-Valle, Robert Laforce, Fermin Moreno, Matthis Synofzik, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Rik Vandenberghe, Elizabeth Finger, Fabrizio Tagliavini, Alexandre de Mendonça, Isabel Santana, Chris R Butler, Simon Ducharme, Alexander Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Sandro Sorbi, Isabelle Le Ber, Florence Pasquier, Jonathan D Rohrer, null null
Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: findings from the GENetic Frontotemporal dementia Initiative cohort. Brain communications 5 (2) (2023)
Jennifer Faber, Moritz Berger, Carlo Wilke, Jeannette Hübener, Tamara Schaprian, Magda M Santana, Marcus Grobe-Einsler, Dement Onder, Berkan Koyak, Paola Giunti, Hector Garcia-Moreno, Cristina Gonzalez-Robles, Manuela Lima, Mafalda Raposo, Ana Rosa Vieira Melo, Luís Pereira de Almeida, Patrick Silva, Maria M Pinto, Bart P C van de Warrenburg, Judith van Gaalen, Jeroen Jeroen de Vries, Gülin Öz, James M Joers, Matthis Synofzik, Ludger Schöls, Olaf Riess, Jon Infante, Leire Manrique, Dagmar Timmann, Andreas Thieme, Heike Jacobi, Kathrin Reetz, Imis Dogan, Chiadikaobi U Onyike, Michal Povazan, Jeremy D Schmahmann, Eva-Maria Ratai, Matthias Schmid, Thomas Klockgether
Stage-dependent biomarker changes in spinocerebellar ataxia type 3. medRxiv : the preprint server for health sciences (2023)
Andreas Traschütz, Felix Heindl, Muhammad Bilal, Annette Hartmann, Claudia Dufke, Olaf Riess, Andreas Zwergal, Dan Rujescu, Tobias Haack, Matthis Synofzik, Michael Strupp
Frequency and Phenotype of RFC1 Repeat Expansions in Bilateral Vestibulopathy. Neurology (2023)
Annemieke Aarstma-Rus, Willeke M C van Roon-Mom, Marlen Lauffer, Christine Siezen, Britt Duijndam, Tineke Coenen-de Roo, Rebecca Schüle, Matthis Synofzik, Holm Graessner
Development of tailored splice switching oligonucleotides for progressive brain disorders in Europe: development, regulation and implementation considerations. RNA (New York, N.Y.) (2023)
Jennifer Faber, Moritz Berger, Carlo Wilke, Jeannette Hübener, Tamara Schaprian, Magda M Santana, Marcus Grobe-Einsler, Demet Onder, Berkan Koyak, Paola Giunti, Hector Garcia-Moreno, Cristina Gonzalez-Robles, Manuela Lima, Mafalda Raposo, Ana Rosa Vieira Melo, Luis Pereira de Almeida, Patrick Silva, Maria M Pinto, Bart P van de Warrenburg, Judith van Gaalen, Jeroen de Vries, Gülin Öz, James M Joers, Matthis Synofzik, Ludger Schols, Olaf Riess, Jon Infante, Leire Manrique, Dagmar Timmann, Andreas Thieme, Heike Jacobi, Kathrin Reetz, Imis Dogan, Chiadikaobi Onyike, Michal Povazan, Jeremy Schmahmann, Eva-Maria Ratai, Matthias Schmid, Thomas Klockgether
Stage-dependent biomarker changes in spinocerebellar ataxia type 3. Annals of neurology (2023)
Wolfram Ziegler, Theresa Schölderle, Bettina Brendel, Verena Risch, Stefanie Felber, Katharina Ott, Georg Goldenberg, Mathias Vogel, Kai Bötzel, Lena Zettl, Stefan Lorenzl, Renée Lampe, Katrin Strecker, Matthis Synofzik, Tobias Lindig, Hermann Ackermann, Anja Staiger
Speech and Nonspeech Parameters in the Clinical Assessment of Dysarthria: A Dimensional Analysis. Brain sciences 13 (1) (2023)
Catherine Ashton, Elisabetta Indelicato, David Pellerin, Guillemette Clément, Matt C Danzi, Marie-Josée Dicaire, Céline Bonnet, Henry Houlden, Stephan Züchner, Matthis Synofzik, Phillipa J Lamont, Mathilde Renaud, Sylvia Boesch, Bernard Brais
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients. Brain communications 5 (5) (2023)
Curtiss A Chapman, Maryna Polyakova, Karsten Mueller, Christopher Weise, Klaus Fassbender, Klaus Fliessbach, Johannes Kornhuber, Martin Lauer, Sarah Anderl-Straub, Albert Ludolph, Johannes Prudlo, Anja Staiger, Matthis Synofzik, Jens Wiltfang, Lina Riedl, Janine Diehl-Schmid, Markus Otto, Adrian Danek, null null, Gesa Hartwigsen, Matthias L Schroeter
Structural correlates of language processing in primary progressive aphasia. Brain communications 5 (2) (2023)
Benjamin Roeben, Madeleine Scharf, Ramona Miske, Bianca Teegen, Andreas Traschütz, Carlo Wilke, Milan Zimmermann, Christian Deuschle, Claudia Schulte, Kathrin Brockmann, Ludger Schöls, Lars Komorowski, Matthis Synofzik
Seroprevalence of autoimmune antibodies in degenerative ataxias: a broad, disease-controlled screening in 456 subjects. Journal of neurology (2023)
Annemieke Aarstma-Rus, Willeke M C van Roon-Mom, Marlen Lauffer, Christine Siezen, Britt Duijndam, Tineke Coenen-de Roo, Rebecca Schüle, Matthis Synofzik, Holm Graessner
Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations. RNA (New York, N.Y.) 29 (4) (2023)
David Pellerin, Pablo Iruzubieta, Şeyma Tekgül, Matt C Danzi, Catherine Ashton, Marie-Josée Dicaire, Marion Wandzel, Virginie Roth, Phillipa J Lamont, Céline Bonnet, Mathilde Renaud, Matthis Synofzik, Stephan Zuchner, Bernard Brais, Ayse Nazli Basak, Henry Houlden
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". Movement disorders : official journal of the Movement Disorder Society 38 (8) (2023)
James Liu, Yi He, Cara Lwin, Marina Han, Bin Guan, Amelia Naik, Chelsea Bender, Nia Moore, Laryssa A Huryn, Yuri Sergeev, Haohua Qian, Yong Zeng, Lijin Dong, Pinghu Liu, Jingqi Lei, Carl J Haugen, Lev Prasov, Ruifang Shi, Hélène Dollfus, Petros Aristodemou, Yannik Laich, Andrea H Németh, John Taylor, Susan Downes, Maciej Krawczynski, Isabelle Meunier, Melissa Strassberg, Jessica Tenney, Josephine Gao, Matthew A Shear, Anthony T Moore, Jacque L Duncan, Beatriz Menendez, Sarah Hull, Andrea Vincent, Carly E Siskind, Elias I Traboulsi, Craig Blackstone, Robert Sisk, Virginia Utz, Andrew R Webster, Michel Michaelides, Gavin Arno, Matthis Synofzik, Robert B Hufnagel
Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders. bioRxiv : the preprint server for biology (2023)
Federico Zilio, Javier Gomez-Pilar, Ujwal Chaudhary, Stuart M Fogel, Tatiana Fomina, Matthis Synofzik, Ludger Schöls, Shumei Cao, Jun Zhang, Zirui Huang, Niels Birbaumer, Georg Northoff
Altered brain dynamics index levels of arousal in complete locked-in syndrome. Communications biology 6 (1) (2023)
Wolfram Ziegler, Theresa Schölderle, Bettina Brendel, Verena Risch, Stefanie Felber, Katharina Ott, Georg Goldenberg, Mathias Vogel, Kai Bötzel, Lena Zettl, Stefan Lorenzl, Renée Lampe, Katrin Strecker, Matthis Synofzik, Tobias Lindig, Hermann Ackermann, Anja Staiger
Speech and Nonspeech Parameters in the Clinical Assessment of Dysarthria: A Dimensional Analysis. Brain sciences 13 (1) (2023)
Kiran Samra, Amy Macdougall, Georgia Peakman, Arabella Bouzigues, Martina Bocchetta, David M Cash, Caroline V Greaves, Rhian S Convery, John Cornelis van Swieten, Lize C Jiskoot, Harro Seelaar, Fermin Moreno, Raquel Sánchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James Benedict Rowe, Barbara Borroni, Elizabeth C Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonca, Christopher R Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Pietro Tiraboschi, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan Daniel Rohrer, Lucy L Russell, null null, null null
Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales. Journal of neurology, neurosurgery, and psychiatry (2023)
Filippo Maria Santorelli, Hayley S McLoughlin, Justin M Wolter, Daniele Galatolo, Matthis Synofzik, David Mengel, Puneet Opal, null null
Standards of Fluid Biomarker Collection and Pre-analytical Processes in Humans and Mice: Recommendations by the Ataxia Global Initiative Working Group on Biomarkers. Cerebellum (London, England) (2023)
Jennifer Faber, Moritz Berger, Carlo Wilke, Jeannette Hübener, Tamara Schaprian, Magda M Santana, Marcus Grobe-Einsler, Dement Onder, Berkan Koyak, Paola Giunti, Hector Garcia-Moreno, Cristina Gonzalez-Robles, Manuela Lima, Mafalda Raposo, Ana Rosa Vieira Melo, Luís Pereira de Almeida, Patrick Silva, Maria M Pinto, Bart P C van de Warrenburg, Judith van Gaalen, Jeroen Jeroen de Vries, Gülin Öz, James M Joers, Matthis Synofzik, Ludger Schöls, Olaf Riess, Jon Infante, Leire Manrique, Dagmar Timmann, Andreas Thieme, Heike Jacobi, Kathrin Reetz, Imis Dogan, Chiadikaobi U Onyike, Michal Povazan, Jeremy D Schmahmann, Eva-Maria Ratai, Matthias Schmid, Thomas Klockgether
Stage-dependent biomarker changes in spinocerebellar ataxia type 3. medRxiv : the preprint server for health sciences (2023)
Annemieke Aarstma-Rus, Willeke M C van Roon-Mom, Marlen Lauffer, Christine Siezen, Britt Duijndam, Tineke Coenen-de Roo, Rebecca Schüle, Matthis Synofzik, Holm Graessner
Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations. RNA (New York, N.Y.) 29 (4) (2023)
Maike F Dohrn, Danique Beijer, Museer A Lone, Elif Bayraktar, Piraye Oflazer, Rotem Orbach, Sandra Donkervoort, A Reghan Foley, Aubrey Rose, Michael Lyons, Raymond J Louie, Kenneth Gable, Teresa Dunn, Sitong Chen, Matt C Danzi, Matthis Synofzik, Carsten G Bönnemann, Ayse Nazli Basak, Thorsten Hornemann, Stephan Zuchner
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis. Journal of neurology, neurosurgery, and psychiatry (2023)
Kiran Samra, Amy Macdougall, Georgia Peakman, Arabella Bouzigues, Martina Bocchetta, David M Cash, Caroline V Greaves, Rhian S Convery, John Cornelis van Swieten, Lize C Jiskoot, Harro Seelaar, Fermin Moreno, Raquel Sánchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James Benedict Rowe, Barbara Borroni, Elizabeth C Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonca, Christopher R Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Pietro Tiraboschi, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan Daniel Rohrer, Lucy L Russell, null null, null null
Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales. Journal of neurology, neurosurgery, and psychiatry (2023)
David Pellerin, Giulia Del Gobbo, Madeline Couse, Egor Dolzhenko, Marie-Josée Dicaire, Adriana Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Phillipa J Lamont, Nigel G Laing, Mathilde Renaud, Gianina Ravenscroft, Henry Houlden, Matthis Synofzik, Michael A Eberle, Kym M Boycott, Tomi Pastinen, null null, Bernard Brais, Stephan Zuchner, Matt C Danzi
A common flanking variant is associated with enhanced meiotic stability of the FGF14 -SCA27B locus. bioRxiv : the preprint server for biology (2023)
Annemieke Aarstma-Rus, Willeke M C van Roon-Mom, Marlen Lauffer, Christine Siezen, Britt Duijndam, Tineke Coenen-de Roo, Rebecca Schüle, Matthis Synofzik, Holm Graessner
Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations. RNA (New York, N.Y.) 29 (4) (2023)
Kiran Samra, Amy Macdougall, Georgia Peakman, Arabella Bouzigues, Martina Bocchetta, David M Cash, Caroline V Greaves, Rhian S Convery, John Cornelis van Swieten, Lize C Jiskoot, Harro Seelaar, Fermin Moreno, Raquel Sánchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James Benedict Rowe, Barbara Borroni, Elizabeth C Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonca, Christopher R Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Pietro Tiraboschi, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan Daniel Rohrer, Lucy L Russell, null null, null null
Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales. Journal of neurology, neurosurgery, and psychiatry (2023)
Kiran Samra, Amy Macdougall, Georgia Peakman, Arabella Bouzigues, Martina Bocchetta, David M Cash, Caroline V Greaves, Rhian S Convery, John Cornelis van Swieten, Lize C Jiskoot, Harro Seelaar, Fermin Moreno, Raquel Sánchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James Benedict Rowe, Barbara Borroni, Elizabeth C Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonca, Christopher R Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Pietro Tiraboschi, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan Daniel Rohrer, Lucy L Russell, null null, null null
Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales. Journal of neurology, neurosurgery, and psychiatry (2023)
Jennifer Faber, Moritz Berger, Carlo Wilke, Jeannette Hübener, Tamara Schaprian, Magda M Santana, Marcus Grobe-Einsler, Dement Onder, Berkan Koyak, Paola Giunti, Hector Garcia-Moreno, Cristina Gonzalez-Robles, Manuela Lima, Mafalda Raposo, Ana Rosa Vieira Melo, Luís Pereira de Almeida, Patrick Silva, Maria M Pinto, Bart P C van de Warrenburg, Judith van Gaalen, Jeroen Jeroen de Vries, Gülin Öz, James M Joers, Matthis Synofzik, Ludger Schöls, Olaf Riess, Jon Infante, Leire Manrique, Dagmar Timmann, Andreas Thieme, Heike Jacobi, Kathrin Reetz, Imis Dogan, Chiadikaobi U Onyike, Michal Povazan, Jeremy D Schmahmann, Eva-Maria Ratai, Matthias Schmid, Thomas Klockgether
Stage-dependent biomarker changes in spinocerebellar ataxia type 3. medRxiv : the preprint server for health sciences (2023)
Kiran Samra, Amy M MacDougall, Arabella Bouzigues, Martina Bocchetta, David M Cash, Caroline V Greaves, Rhian S Convery, Chris Hardy, John C van Swieten, Harro Seelaar, Lize C Jiskoot, Fermin Moreno, Raquel Sanchez-Valle, Robert Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Barbara Borroni, Elizabeth Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Chris R Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jason D Warren, Jonathan D Rohrer, Lucy L Russell, null null
Genetic forms of primary progressive aphasia within the GENetic Frontotemporal dementia Initiative (GENFI) cohort: comparison with sporadic primary progressive aphasia. Brain communications 5 (2) (2023)
Marcus Grobe-Einsler, Jennifer Faber, A Taheri, J Kybelka, J Raue, J Volkening, F Helmhold, Matthis Synofzik, T Klockgether
SARA speech -Feasibility of automated assessment of ataxic speech disturbance. NPJ digital medicine 6 (1) (2023)
David Pellerin, Carlo Wilke, Andreas Traschütz, Sara Nagy, Riccardo Currò, Marie-Josée Dicaire, Hector Garcia-Moreno, Mathieu Anheim, Thomas Wirth, Jennifer Faber, Dagmar Timmann, Christel Depienne, Dan Rujescu, José Gazulla, Mary M Reilly, Paola Giunti, Bernard Brais, Henry Houlden, Ludger Schöls, Michael Strupp, Andreas Cortese, Matthis Synofzik
Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy. Journal of neurology, neurosurgery, and psychiatry (2023)
Holger Hengel, David Pellerin, Carlo Wilke, Zofia Fleszar, Bernard Brais, Tobias Haack, Andreas Traschütz, Ludger Schöls, Matthis Synofzik
As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort. Movement disorders : official journal of the Movement Disorder Society (2023)
Martina Bocchetta, Emily G Todd, Arabella Bouzigues, David M Cash, Jennifer M Nicholas, Rhian S Convery, Lucy L Russell, David L Thomas, Ian B Malone, Juan Eugenio Iglesias, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Barbara Borroni, Daniela Galimberti, Raquel Sanchez-Valle, Robert Laforce, Fermin Moreno, Matthis Synofzik, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Rik Vandenberghe, Elizabeth Finger, Fabrizio Tagliavini, Alexandre de Mendonça, Isabel Santana, Chris R Butler, Simon Ducharme, Alexander Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Sandro Sorbi, Isabelle Le Ber, Florence Pasquier, Jonathan D Rohrer, null null
Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: findings from the GENetic Frontotemporal dementia Initiative cohort. Brain communications 5 (2) (2023)
Annemieke Aarstma-Rus, Willeke M C van Roon-Mom, Marlen Lauffer, Christine Siezen, Britt Duijndam, Tineke Coenen-de Roo, Rebecca Schüle, Matthis Synofzik, Holm Graessner
Development of tailored splice-switching oligonucleotides for progressive brain disorders in Europe: development, regulation, and implementation considerations. RNA (New York, N.Y.) 29 (4) (2023)
Andreas Traschütz, Astrid D Adarmes-Gomez, Mathieu Anheim, Jonathan Baets, Bernard Brais, Cynthia Gagnon, Janina Gburek-Augustat, Sarah Doss, Hasmet A Hanagasi, Christoph Kamm, Peter Klivenyi, Thomas Klockgether, Thomas Klopstock, Martina Minnerop, Alexander Münchau, Mathilde Renaud, Filippo Maria Santorelli, Ludger Schöls, Andreas Thieme, Stefan Vielhaber, Bart P van de Warrenburg, Ginevra Zanni, Ralf-Dieter Hilgers, null null, Matthis Synofzik
Responsiveness of the SARA and natural history in 884 recessive and early onset ataxia patients. Annals of neurology (2023)
Jackie M Poos, Amy MacDougall, Esther van den Berg, Lize C Jiskoot, Janne M Papma, Emma L van der Ende, Harro Seelaar, Lucy L Russell, Georgia Peakman, Rhian S Convery, Yolande A L Pijnenburg, Fermin Moreno, Raquel Sanchez-Valle, Barbara Borroni, Robert Jr Laforce, Marie-Claire Doré, Mario Masellis, Maria Carmela Tartaglia, Caroline Graff, Daniela Galimberti, James Benedict Rowe, Elizabeth Finger, Matthis Synofzik, Rik Vandenberghe, Alexandre de Mendonça, Pietro Tiraboschi, Isabel Santana, Simon Ducharme, Christopher Butler, Alexander Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Isabelle Le Ber, Florence Pasquier, John van Swieten, Jonathan D Rohrer, null null
Longitudinal Cognitive Changes in Genetic Frontotemporal Dementia Within the GENFI Cohort. Neurology 99 (3) (2022)
Hector Garcia-Moreno, Mercedes Prudencio, Gilbert Thomas-Black, Nita Solanky, Karen R Jansen-West, Rana Hanna Al-Shaikh, Amanda J Heslegrave, Henrik Zetterberg, Magda M Santana, Luis Pereira de Almeida, Ana Vasconcelos-Ferreira, Cristina Januário, Jon Infante, Jennifer Faber, Thomas Klockgether, Kathrin Reetz, Mafalda Raposo, Ana F Ferreira, Manuela Lima, Ludger Schöls, Matthis Synofzik, Jeannette Hübener, Andreas Puschmann, Sorina Gorcenco, Zbigniew K Wszolek, Leonard Petrucelli, Paola Giunti
Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3. European journal of neurology 29 (8) (2022)
David Pellerin, Matt C Danzi, Carlo Wilke, Mathilde 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 Genís, 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 H 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 A Saporta, Rebecca Schüle, Ludger Schöls, Roberta La Piana, Matthis Synofzik, Stephan Zuchner, Bernard Brais
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. The New England journal of medicine (2022)
David Pellerin, Matt C Danzi, Carlo Wilke, Mathilde 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 Genís, 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 H 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 A Saporta, Rebecca Schüle, Ludger Schöls, Roberta La Piana, Matthis Synofzik, Stephan Zuchner, Bernard Brais
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. The New England journal of medicine 388 (2) (2022)
David Pellerin, Matt C Danzi, Carlo Wilke, Mathilde 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 Genís, 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 H 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 A Saporta, Rebecca Schüle, Ludger Schöls, Roberta La Piana, Matthis Synofzik, Stephan Zuchner, Bernard Brais
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. The New England journal of medicine 388 (2) (2022)
Isabell Cordts, Luisa Semmler, Jannik Prasuhn, Annette Seibt, Diran Herebian, Tharsini Navaratnarajah, Joohyun Park, Natalie Deininger, Lucia Laugwitz, Sophia L Göricke, Paul Lingor, Norbert Brüggemann, Alexander Münchau, Matthis Synofzik, Dagmar Timmann, Johannes A Mayr, Tobias B Haack, Felix Distelmaier, Marcus Deschauer
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease. Movement disorders : official journal of the Movement Disorder Society 37 (10) (2022)
Golia Shafiei, Vincent Bazinet, Mahsa Dadar, Ana L Manera, Lars Lau Raket, Alain Dagher, Barbara Borroni, Joaquín Castilla, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, James B Rowe, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Chris Butler, Alex Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Sandro Sorbi, Esther van den Berg, Harro Seelaar, John C van Swieten, Jonathan D Rohrer, Bratislav Mišić, Simon Ducharme, null null, null null
Network structure and transcriptomic vulnerability shape atrophy in frontotemporal dementia. Brain : a journal of neurology (2022)
Annika Thierfelder, Jens Seemann, Natalie John, Florian Harmuth, Martin Giese, Rebecca Schüle, Ludger Schöls, Dagmar Timmann, Matthis Synofzik, Winfried Ilg
Real-Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society 37 (5) (2022)
Elizabeth Finger, Rubina Malik, Martina Bocchetta, Kristy Coleman, Caroline Graff, Barbara Borroni, Mario Masellis, Robert Laforce, Caroline V Greaves, Lucy L Russell, Rhian S Convery, Arabella Bouzigues, David M Cash, Markus Otto, Matthis Synofzik, James B Rowe, Daniela Galimberti, Pietro Tiraboschi, Robert Bartha, Christen Shoesmith, Maria Carmela Tartaglia, John C van Swieten, Harro Seelaar, Esther van den Berg, Sandro Sorbi, Chris R Butler, Alexander Gerhard, Raquel Sanchez-Valle, Alexandre de Mendonça, Fermin Moreno, Rik Vandenberghe, Isabelle Le Ber, Johannes Levin, Florence Pasquier, Isabel Santana, Jonathan D Rohrer, Simon Ducharme, null null
Neurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers. Brain : a journal of neurology (2022)
Rose Bruffaerts, Dorothy Gors, Alicia Bárcenas Gallardo, Mathieu Vandenbulcke, Philip Van Damme, Paul Suetens, John C van Swieten, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, James B Rowe, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Alexandre de Mendonça, Fabrizio Tagliavini, Chris R Butler, Isabel Santana, Alexander Gerhard, Simon Ducharme, Johannes Levin, Adrian Danek, Markus Otto, Jonathan D Rohrer, Patrick Dupont, Peter Claes, Rik Vandenberghe, null null
Hierarchical spectral clustering reveals brain size and shape changes in asymptomatic carriers of C9orf72 . Brain communications 4 (4) (2022)
Thomas Klockgether, Tetsuo Ashizawa, Bernard Brais, Rosalind Chuang, Alexandra Durr, Brent Fogel, Julie Greenfield, Sue Hagen, Laura Bannach Jardim, Jiang Hong, Osamu Onodera, José Luiz Pedroso, Bin-Weng Soong, David Szmulewicz, Holm Graessner, Matthis Synofzik, null null
Paving the Way Toward Meaningful Trials in Ataxias: An Ataxia Global Initiative Perspective. Movement disorders : official journal of the Movement Disorder Society 37 (6) (2022)
Annabel Nelson, Lucy L Russell, Georgia Peakman, Rhian S Convery, Arabella Bouzigues, Caroline V Greaves, Martina Bocchetta, David M Cash, John C van Swieten, Lize Jiskoot, Fermin Moreno, Raquel Sanchez-Valle, Robert Jr Laforce, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Barbara Borroni, Elizabeth C Finger, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Chris R Butler, Alexander Gerhard, Simon Ducharme, Isabelle Le Ber, Isabel Santana, Florence Pasquier, Johannes Levin, Markus Otto, Sandro Sorbi, Jonathan Daniel Rohrer, null null
The CBI-R detects early behavioural impairment in genetic frontotemporal dementia. Annals of clinical and translational neurology 9 (5) (2022)
Maria Thereza D Gama, Pedro Braga-Neto, Deborah M Rangel, Clécio Godeiro, Rodrigo Alencar, Emília K Embiruçu, Mario R Cornejo-Olivas, Elison Sarapura-Castro, Paula Saffie Awad, Daniela Muñoz Chesta, Marcelo Kauffman, Sergio Rodriguez Quiroga, Laura Bannach Jardim, Felipe F da Graça, Marcondes Cavalcante de França Junior, Pedro J Tomaselli, Wilson Marques, Helio A G Teive, Orlando G P Barsottini, José Luiz Pedroso, Matthis Synofzik
Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients. Movement disorders : official journal of the Movement Disorder Society 37 (8) (2022)
Christoph Kessler, Lina Maria Serna-Higuita, Carlo Wilke, Tim W Rattay, Holger Hengel, Jennifer Reichbauer, Elke Stransky, Alejandra Leyva-Gutiérrez, David Mengel, Matthis Synofzik, Ludger Schöls, Peter Martus, Rebecca Schüle
Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4. Annals of clinical and translational neurology 9 (3) (2022)
Adriana P Rebelo, Benjamin Bender, Tobias B Haack, Adriana P Rebelo, null null, A Nazli Basak, Matthis Synofzik
Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changes. Brain : a journal of neurology 145 (10) (2022)
Danique Beijer, Maike F Dohrn, Jonathan De Winter, Sarah Fazal, Andreas Cortese, Tanya Stojkovic, Gorka Fernández-Eulate, Gauthier Remiche, Mattia Gentile, Rudy Van Coster, Claudia Dufke, Matthis Synofzik, Peter De Jonghe, Stephan Züchner, Jonathan Baets
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia. European journal of neurology 29 (7) (2022)
Thiago Junqueira Ribeiro de Rezende, Isaac M Adanyeguh, Filippo Arrigoni, Benjamin Bender, Fernando Cendes, Louise A Corben, Andreas Deistung, Martin Delatycki, Imis Dogan, Gary F Egan, Sophia L Göricke, Nellie Georgiou-Karistianis, Pierre-Gilles Henry, Diane Hutter, Neda Jahanshad, James M Joers, Christophe Lenglet, Tobias Lindig, Alberto R M Martinez, Andrea Martinuzzi, Gabriella Paparella, Denis Peruzzo, Kathrin Reetz, Sandro Romanzetti, Ludger Schöls, Jörg B Schulz, Matthis Synofzik, Sophia I Thomopoulos, Paul M Thompson, Dagmar Timmann, Ian H Harding, Marcondes Cavalcante de França Junior
Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia. Movement disorders : official journal of the Movement Disorder Society (2022)
Erika Souche, Sergi Beltran, Erwin Brosens, John W Belmont, Magdalena Fossum, Olaf Riess, Christian Gilissen, Amin Ardeshirdavani, Gunnar Houge, Marielle E van Gijn, Jill Clayton-Smith, Matthis Synofzik, Nicole de Leeuw, Zandra C Deans, Yasemin Dincer, Sebastian H Eck, Saskia van der Crabben, Meena Balasubramanian, Holm Graessner, Marc Sturm, Helen Firth, Alessandra Ferlini, Rima Nabbout, Elfride De Baere, Thomas Liehr, Milan Macek, Gert Matthijs, Hans Scheffer, Peter Bauer, Helger G Yntema, Janneke M Weiss
Recommendations for whole genome sequencing in diagnostics for rare diseases. European journal of human genetics : EJHG 30 (9) (2022)
Christopher Kobylecki, Elham Nikram, Alexandra Perez-Soriano, Carlo Wilke, Alexandra Foubert-Samier, Nirosen Vijiaratnam, Tong Guo, Edwin Jabbari, Simisola Olufodun, Mariel Gonzalez, Konstantin Senkevich, Brice Laurens, Patrice Péran, Olivier Rascol, Anne Pavy Le Traon, Emily G Todd, Alyssa A Costantini, Sondos Alikhwan, Ambreen Tariq, Bai Lin Ng, Esteban Muñoz, Celia Painous, Yaroslau Compta, Carme Junque, Barbara Segura, Kristina Zhelcheska, Henny Wellington, Ludger Schöls, Zane Jaunmuktane, Christopher Kobylecki, Alistair Church, Michele T M Hu, James B Rowe, P Nigel Leigh, Luke Massey, David J Burn, Nicola Pavese, Thomas Foltynie, Sofya Pchelina, Nicholas Wood, Amanda J Heslegrave, Henrik Zetterberg, Martina Bocchetta, Jonathan D Rohrer, Maria J Marti, Matthis Synofzik, Huw R Morris, Wassilios G Meissner, Henry Houlden
methoidNeurofilament light levels predict clinical progression and death in multiple system atrophy. Brain : a journal of neurology (2022)
Liedewei Van de Vondel, Jonathan De Winter, Danique Beijer, Giulia Coarelli, Melanie Wayand, Robin Palvadeau, Martje G Pauly, Katrin Klein, Maren Rautenberg, Léna Guillot-Noël, Tine Deconinck, Atay Vural, Sibel Ertan, Okan Dogu, HIlmi Uysal, Vesna Brankovic, Rebecca Herzog, Alexis Brice, Alexandra Durr, Stephan Klebe, Friedrich Stock, Almut Turid Bischoff, Tim W Rattay, María-Jesús Sobrido, Giovanna De Michele, Peter De Jonghe, Thomas Klopstock, Katja Lohmann, Ginevra Zanni, Filippo M Santorelli, Vincent Timmerman, Tobias B Haack, Stephan Züchner, null null, Rebecca Schüle, Giovanni Stevanin, Matthis Synofzik, Ayse Nazli Basak, Jonathan Baets
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society 37 (6) (2022)
Andreas Traschütz, Carlo Wilke, Tobias B Haack, Benjamin Bender, null null, Matthis Synofzik
Sensory axonal neuropathy in RFC1-disease: tip of the iceberg of broad subclinical multisystemic neurodegeneration. Brain : a journal of neurology 145 (3) (2022)
Carlo Wilke, David Mengel, Ludger Schöls, Holger Hengel, Maria Rakowicz, Thomas Klockgether, Alexandra Dürr, Alessandro Filla, Bela Melegh, Rebecca Schüle, Kathrin Reetz, Heike Jacobi, Matthis Synofzik
Levels of Neurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 1. Neurology 98 (20) (2022)
Adam P Vogel, Lisa H Graf, Michelle Magee, Ludger Schöls, Natalie Rommel, Matthis Synofzik
Home-based biofeedback speech treatment improves dysarthria in repeat-expansion SCAs. Annals of clinical and translational neurology 9 (8) (2022)
Sonja Schönecker, Francisco Jesús Martinez-Murcia, Boris-Stephan Rauchmann, Nicolai Franzmeier, Catharina Prix, Elisabeth Wlasich, Sandra V Loosli, Katja Bochmann, Juan-Manuel Gorriz Saez, Robert Jr Laforce, Simon Ducharme, Maria Carmela Tartaglia, Elizabeth Finger, Alexandre de Mendonça, Isabel Santana, Raquel Sanchez-Valle, Fermin Moreno, Sandro Sorbi, Fabrizio Tagliavini, Barbara Borroni, Markus Otto, Matthis Synofzik, Daniela Galimberti, Rik Vandenberghe, John van Swieten, Christopher Butler, Alexander Gerhard, Caroline Graff, Adrian Danek, Jonathan D Rohrer, Mario Masellis, James Benedict Rowe, Johannes Levin, null null
Frequency and Longitudinal Course of Motor Signs In Genetic Frontotemporal Dementia. Neurology (2022)
David Pellerin, Matt C Danzi, Carlo Wilke, Mathilde 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 Genís, 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 H 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 A Saporta, Rebecca Schüle, Ludger Schöls, Roberta La Piana, Matthis Synofzik, Stephan Zuchner, Bernard Brais
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. The New England journal of medicine 388 (2) (2022)
Winfried Ilg, Björn Müller, Jennifer Faber, Judith van Gaalen, Holger Hengel, Ina R Vogt, Guido Hennes, Bart P C van de Warrenburg, Thomas Klockgether, Ludger Schöls, Matthis Synofzik, null null
Digital Gait Biomarkers Allow to Capture 1-Year Longitudinal Change in Spinocerebellar Ataxia Type 3. Movement disorders : official journal of the Movement Disorder Society 37 (11) (2022)
Roderick P P W M Maas, Steven Teerenstra, Manuela Lima, Paula Pires, Luis Pereira de Almeida, Judith van Gaalen, Dagmar Timmann, Jon Infante, Chiadi Onyike, Khalaf Bushara, Heike Jacobi, Kathrin Reetz, Magda M Santana, Joana Afonso Ribeiro, Jeannette Hübener, Jeroen J de Vries, Matthis Synofzik, Ludger Schöls, Hector Garcia-Moreno, Paola Giunti, Jennifer Faber, Thomas Klockgether, Bart P C van de Warrenburg
Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3. Movement disorders : official journal of the Movement Disorder Society 37 (9) (2022)
Katherine M Wilson, Eszter Katona, Idoia Glaria, Mireia Carcolé, Imogen J Swift, Aitana Sogorb-Esteve, Carolin Heller, Arabella Bouzigues, Amanda J Heslegrave, Ashvini Keshavan, Kathryn Knowles, Saurabh Patil, Susovan Mohapatra, Yuanjing Liu, Jaya Goyal, Raquel Sanchez-Valle, Robert Jr Laforce, Matthis Synofzik, James Benedict Rowe, Elizabeth C Finger, Rik Vandenberghe, Christopher R Butler, Alexander Gerhard, John Cornelis van Swieten, Harro Seelaar, Barbara Borroni, Daniela Galimberti, Alexandre de Mendonça, Mario Masellis, M Carmela Tartaglia, Markus Otto, Caroline Graff, Simon Ducharme, Jonathan M Schott, Andrea Malaspina, Henrik Zetterberg, Ramakrishna Boyanapalli, Jonathan Daniel Rohrer, Adrian M Isaacs, null null
Development of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72 -associated frontotemporal dementia and amyotrophic lateral sclerosis. Journal of neurology, neurosurgery, and psychiatry 93 (7) (2022)
David Pellerin, Matt C Danzi, Carlo Wilke, Mathilde 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 Genís, 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 H 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 A Saporta, Rebecca Schüle, Ludger Schöls, Roberta La Piana, Matthis Synofzik, Stephan Zuchner, Bernard Brais
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. The New England journal of medicine 388 (2) (2022)
Christian Laßmann, Winfried Ilg, Marc Schneider, Maximilian Völker, Daniel F B Haeufle, Rebecca Schüle, Martin A Giese, Matthis Synofzik, Ludger Schöls, Tim W Rattay
Specific Gait Changes in Prodromal Hereditary Spastic Paraplegia Type 4: preSPG4 Study. Movement disorders : official journal of the Movement Disorder Society (2022)
Tim W Rattay, Maximilian Völker, Maren Rautenberg, Christoph Kessler, Isabel Wurster, Natalie Winter, Tobias B Haack, Tobias Lindig, Holger Hengel, Matthis Synofzik, Rebecca Schüle, Peter Martus, Ludger Schöls
The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study. Brain : a journal of neurology (2022)
Benjamin Roeben, Eva Bültmann, Claudia Stendel, Matthis Synofzik
Cerebellar Bottom of Fissure Hyperintensities in MT-ATP6-Associated Ataxia. Annals of neurology 91 (3) (2022)
Ione O C Woollacott, Imogen J Swift, Aitana Sogorb-Esteve, Carolin Heller, Kathryn Knowles, Arabella Bouzigues, Lucy L Russell, Georgia Peakman, Caroline V Greaves, Rhian Convery, Amanda Heslegrave, James B Rowe, Barbara Borroni, Daniela Galimberti, Pietro Tiraboschi, Mario Masellis, Maria Carmela Tartaglia, Elizabeth C Finger, John C van Swieten, Harro Seelaar, Lize Jiskoot, Sandro Sorbi, Chris R Butler, Caroline Graff, Alexander Gerhard, Robert Jr Laforce, Raquel Sanchez-Valle, Alexandre de Mendonça, Fermin Moreno, Matthis Synofzik, Rik Vandenberghe, Simon Ducharme, Isabelle Le Ber, Johannes Levin, Markus Otto, Florence Pasquier, Isabel Santana, Henrik Zetterberg, Jonathan Daniel Rohrer, null null
CSF glial markers are elevated in a subset of patients with genetic frontotemporal dementia. Annals of clinical and translational neurology 9 (11) (2022)
Sarah Fazal, Matt C Danzi, André B P van Kuilenburg, Selina Reich, Andreas Traschütz, Benjamin Bender, René Leen, Camilo Toro, Karen Usdin, Bruce Hayward, David R Adams, Clara D M van Karnebeek, Carlos R Ferreira, Precilla D'Sousa, Undiagnosed Diseases Network, Mustafa Tekin, Stephan Züchner, Matthis Synofzik
Repeat expansions nested within tandem CNVs: A unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation. Human molecular genetics (2022)
Isabell Cordts, Demet Önder, Andreas Traschütz, Xenia Kobeleva, Ivan Karin, Martina Minnerop, Peter Koertvelyessy, Saskia Biskup, Stephan Forchhammer, Johannes Binder, Andreas Tzschach, Frank Meiss, Axel Schmidt, Martina Kreiß, Kirsten Cremer, Martin A Mensah, Joohyun Park, Maren Rautenberg, Natalie Deininger, Marc Sturm, Paul Lingor, Thomas Klopstock, Markus Weiler, Franz Marxreiter, Matthis Synofzik, Christian Posch, Judith Sirokay, Thomas Klockgether, Tobias B Haack, Marcus Deschauer
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD ND ): Time to Move Beyond the Skin. Movement disorders : official journal of the Movement Disorder Society 37 (8) (2022)
Carlo Wilke, Selina Reich, John C van Swieten, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Robert Jr Laforce, Caroline Graff, Daniela Galimberti, James B Rowe, Mario Masellis, Maria C Tartaglia, Elizabeth C Finger, Rik Vandenberghe, Alexandre de Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris R Butler, Alexander Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Giovanni Frisoni, Roberta Ghidoni, Sandro Sorbi, Martina Bocchetta, Emily Todd, Jens Kuhle, Christian Barro, null null, Jonathan D Rohrer, Matthis Synofzik
Stratifying the Presymptomatic Phase of Genetic Frontotemporal Dementia by Serum NfL and pNfH: A Longitudinal Multicentre Study. Annals of neurology (2021)
Ulrike B S Hedrich, Stephan Lauxmann, Markus Wolff, Matthis Synofzik, Thomas Bast, Adrian Binelli, José M Serratosa, Pedro Martínez-Ulloa, Nicholas M Allen, Mary D King, Kathleen M Gorman, Bruria Ben Zeev, Michal Tzadok, Lily Wong-Kisiel, Dragan Marjanovic, Guido Rubboli, Sanjay M Sisodiya, Florian Lutz, Harshad Pannikkaveettil Ashraf, Kirsten Torge, Pu Yan, Christian Malte Boßelmann, Niklas Schwarz, Monika Fudali, Holger Lerche
4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy. Science translational medicine 13 (609) (2021)
Rebecca Schüle, Dagmar Timmann, Corrie E Erasmus, Jennifer Reichbauer, Melanie Wayand, null null, Bart van de Warrenburg, Ludger Schöls, Carlo Wilke, Andrea Bevot, Stephan Zuchner, Sergi Beltran, Steven Laurie, Leslie Matalonga, Holm Graessner, Matthis Synofzik, null null
Solving unsolved rare neurological diseases-a Solve-RD viewpoint. European journal of human genetics : EJHG 29 (9) (2021)
Holger Hengel, Peter Martus, Jennifer Faber, Hector Garcia-Moreno, Nita Solanky, Paola Giunti, Thomas Klockgether, Kathrin Reetz, Bart P van de Warrenburg, Luis Pereira de Almeida, Magda M Santana, Cristina Januário, Patrick Silva, Andreas Thieme, Jon Infante, Jeroen de Vries, Manuela Lima, Ana F Ferreira, Khalaf Bushara, Heike Jacobi, Chiadi Onyike, Jeremy D Schmahmann, Jeannette Hübener, Matthis Synofzik, Ludger Schöls
Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity. Movement disorders : official journal of the Movement Disorder Society (2021)
Leslie Matalonga, Carles Hernandez-Ferrer, Davide Piscia, null null, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Lisenka E L M Vissers, Richarda M de Voer, null null, null null, null null, null null, Raul Tonda, Steven Laurie, Marcos Fernandez-Callejo, Daniel Picó, Carles Garcia-Linares, Anastasios Papakonstantinou, Alberto Corvó, Ricky Joshi, Hector Diez, Ivo Glynne Gut, Alexander Hoischen, Holm Graessner, Sergi Beltran, null null
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. European journal of human genetics : EJHG 29 (9) (2021)
Matthis Synofzik, Willeke M C van Roon-Mom, Georg Marckmann, Hermine A van Duyvenvoorde, Holm Graessner, Rebecca Schüle, Annemieke Aarstma-Rus
Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives. Nucleic acid therapeutics (2021)
Birte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Richarda M de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, Stephan Ossowski, Peter A C 't Hoen, Antonio Vitobello, Julia M Schulze-Hentrich, Olaf Riess, Han G Brunner, Anthony J Brookes, Ana Rath, Gisèle Bonne, Gulcin Gumus, Alain Verloes, Nicoline Hoogerbrugge, Teresinha Evangelista, Tina Harmuth, Morris Swertz, J Dylan Spalding, Alexander Hoischen, Sergi Beltran, Holm Graessner, null null
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. European journal of human genetics : EJHG 29 (9) (2021)
Adriana P Rebelo, Ilse Eidhof, Vivian P Cintra, Léna Guillot-Noel, Claudia V Pereira, Dagmar Timmann, Andreas Traschütz, Ludger Schöls, Giulia Coarelli, Alexandra Durr, Mathieu Anheim, Christine Tranchant, Bart P van de Warrenburg, Claire Guissart, Michel Koenig, Jack Howell, Carlos T Moraes, Annette Schenck, Giovanni Stevanin, Stephan Züchner, Matthis Synofzik, null null
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia. Brain : a journal of neurology 144 (5) (2021)
Sarah Anderl-Straub, Ludwig Lausser, Jolina Lombardi, Ingo Uttner, Klaus Fassbender, Klaus Fliessbach, Hans-Juergen Huppertz, Holger Jahn, Johannes Kornhuber, Hellmuth Obrig, Anja Schneider, Elisa Semler, Matthis Synofzik, Adrian Danek, Johannes Prudlo, Jan Kassubek, Bernhard Landwehrmeyer, Martin Lauer, Alexander E Volk, Jens Wiltfang, Janine Diehl-Schmid, Albert C Ludolph, Matthias L Schroeter, Hans A Kestler, Markus Otto, null null
Predicting disease progression in behavioral variant frontotemporal dementia. Alzheimer's & dementia (Amsterdam, Netherlands) 13 (1) (2021)
Meret K Huber, Claudia Raichle, Paul Lingor, Matthis Synofzik, Stefan Borgmann, Johanna Erber, Lukas Tometten, Wolfgang Rimili, Sebastian Dolff, Kai Wille, Samuel Knauss, Christiane Piepel, Julia Lanznaster, Siegbert Rieg, Fabian Prasser, Lisa Pilgram, Annika Spottke, Thomas Klockgether, Christine Klein, Franziska Hopfner, Günter U Höglinger, null null
Outcomes of SARS-CoV-2 Infections in Patients with Neurodegenerative Diseases in the LEOSS Cohort. Movement disorders : official journal of the Movement Disorder Society 36 (4) (2021)
Kathrin Gonsior, Gabriele Anna Kaucher, Patrik Pelz, Dorothea Schumann, Melanie Gansel, Sandra Kuhs, Thomas Klockgether, Sylvie Forlani, Alexandra Dürr, Stefan Hauser, Tim W Rattay, Matthis Synofzik, Holger Hengel, Ludger Schöls, Olaf H Rieß, Jeannette Hübener
PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study. Journal of neurology 268 (4) (2020)
Winfried Ilg, Jens Seemann, Martin Giese, Andreas Traschütz, Ludger Schöls, Dagmar Timmann, Matthis Synofzik
Real-life gait assessment in degenerative cerebellar ataxia: Toward ecologically valid biomarkers. Neurology 95 (9) (2020)
Adam P Vogel, Michelle Magee, Reidenis Torres-Vega, Jacqueline Medrano-Montero, Melissa P Cyngler, Megan Kruse, Sandra Rojas, Sebastian Contreras Cubillos, Tamara Canento, Fernanda Maldonado, Yaimee Vazquez-Mojena, Winfried Ilg, Roberto Rodríguez-Labrada, Velázquez-Pérez Luis, Matthis Synofzik
Features of speech and swallowing dysfunction in pre-ataxic spinocerebellar ataxia type 2. Neurology 95 (2) (2020)
Carlo Wilke, Eva Haas, Kathrin Reetz, Jennifer Faber, Hector Garcia-Moreno, Magda M Santana, Bart van de Warrenburg, Holger Hengel, Manuela Lima, Alessandro Filla, Alexandra Durr, Bela Melegh, Marcella Masciullo, Jon Infante, Paola Giunti, Manuela Neumann, Jeroen de Vries, Luis Pereira de Almeida, Maria Rakowicz, Heike Jacobi, Rebecca Schüle, Stephan A Kaeser, Jens Kuhle, Thomas Klockgether, Ludger Schöls, null null, Christian Barro, Jeannette Hübener-Schmid, Matthis Synofzik
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice. EMBO molecular medicine 12 (7) (2020)
Matthis Synofzik, Katherine L Helbig, Florian Harmuth, Tine Deconinck, Pranoot Tanpaiboon, Bo Sun, Wenting Guo, Ruiwu Wang, Erika Palmaer, Sha Tang, G Bradley Schaefer, Janina Gburek-Augustat, Stephan Züchner, Ingeborg Krägeloh-Mann, Jonathan Baets, Peter de Jonghe, Peter Bauer, S R Wayne Chen, Ludger Schöls, Rebecca Schüle
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. European journal of human genetics : EJHG 26 (11) (2018)
Matthis Synofzik, Winfried Ilg
Motor training in degenerative spinocerebellar disease: ataxia-specific improvements by intensive physiotherapy and exergames. BioMed research international 2014 (2014)

Matthis Synofzik.css-eqlu8i{font-size:small;padding-left:4px;} (M Synofzik)

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Matthis Synofzik (M Synofzik)