Publications by authors named "Matthis Synofzik"

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Cortical microstructure is associated with disease severity and clinical progression in genetic frontotemporal dementia: a GENFI study.
Elena Rodriguez-Vieitez, Melissa T Rydell, Abbe Ullgren, Victor Montal, Ignacio Illán-Gala, Matthis Synofzik

Mol Psychiatry· December 2025

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Feasibility of a smartphone application for remote use in spastic ataxias: an 8-week long-term PROSPAX study.
Ilse H J Willemse, Sabato Mellone, Carlo Tacconi, Filippo M Santorelli, Ivana Ricca, Matthis Synofzik

J Neurol· December 2025

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Distinct proteomic CSF profiles in genetic frontotemporal lobar degeneration.
Julie F H De Houwer, Elise G Dopper, Renee van Buuren, Marijke Stokkel, Liset de Boer, Matthis Synofzik

Brain· December 2025

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Integrated Modeling of Digital-Motor and Clinician-Reported Outcomes Using Item Response Theory: Towards Powerful Trials for Rare Neurological Diseases.
Alzahra Hamdan, Andreas Traschütz, Lukas Beichert, Xiaomei Chen, Cynthia Gagnon, Matthis Synofzik

CPT Pharmacometrics Syst Pharmacol· November 2025

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Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia.
Cécile Di Folco, Charlotte Dubec-Fleury, Andreas Traschütz, Christoph Kessler, Selina Reich, Matthis Synofzik

Mov Disord· November 2025

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Digital Outcomes of Upper Limb Ataxia Capture Meaningful Longitudinal Change and Treatment Response.
Dominik Hermle, Robin Schubert, Pascal Barallon, Winfried Ilg, Rebecca Schüle, Matthis Synofzik

Mov Disord· November 2025

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An unsupervised XAI framework for dementia detection with context enrichment.
Devesh Singh, Yusuf Brima, Fedor Levin, Martin Becker, Bjarne Hiller, Matthis Synofzik

Sci Rep· November 2025

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Thalamus involvement in genetic frontotemporal dementia assessed using structural and diffusion MRI: a GENFI study.
Sonja Soskic, Henry F J Tregidgo, Emily G Todd, Arabella Bouzigues, David M Cash, Matthis Synofzik

Brain Commun· November 2025

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Neurodevelopmental effects of genetic frontotemporal dementia mutations revealed by total intracranial volume differences.
Isis So, Arabella Bouzigues, Lucy L Russell, Phoebe H Foster, Eve Ferry-Bolder, Matthis Synofzik

J Alzheimers Dis· November 2025

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Cellular signatures underlying functional resilience in presymptomatic frontotemporal dementia.
Kamen A Tsvetanov, Maura Malpetti, P Simon Jones, Timothy Rittman, David J Whiteside, Matthis Synofzik

Brain· November 2025

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A new FTLD-TDP subtype with annexin A11 co-pathology.
Manuela Neumann, Marleen Van den Broeck, Sarah Wynants, Simon Cheung, Johannes Prudlo, Matthis Synofzik

Acta Neuropathol· November 2025

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A Pharmacometrics-Informed Trial Simulation Framework for Optimizing Study Designs for Disease-Modifying Treatments in Rare Neurological Disorders.
Yevgen Ryeznik, Ralf-Dieter Hilgers, Nicole Heussen, Emmanuelle Comets, France Mentré, Matthis Synofzik

CPT Pharmacometrics Syst Pharmacol· October 2025

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GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic Implications.
Elisabetta Indelicato, Zofia Fleszar, David Pellerin, Wolfgang Nachbauer, Stephan Zuchner, Matthis Synofzik

Mov Disord· October 2025

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White matter hyperintensities precede other biomarkers in GRN frontotemporal dementia.
Mahdie Soltaninejad, Mahsa Dadar, D Louis Collins, Reza Rajabli, Vikram Venkatraghavan, Matthis Synofzik

Alzheimers Dement· October 2025

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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.
Liset de Boer, Lize C Jiskoot, Harro Seelaar, John C van Swieten, Agustin Ibanez, Matthis Synofzik

Alzheimers Dement· October 2025

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Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort study.
David Cheerie, Marlen C Lauffer, Logan Newton, Kimberly Amburgey, Danique Beijer, Matthis Synofzik

Genet Med· October 2025

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Tailored antisense oligonucleotides for ultrarare CNS diseases: An experience-based best practice framework for individual patient evaluation.
Rebecca Schüle, Holm Graessner, Annemieke Aartsma-Rus, Willeke M C van Roon-Mom, , Matthis Synofzik

Mol Ther Nucleic Acids· September 2025

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Cerebrovascular Reactivity at Rest and Its Association With Cognitive Function in People With Genetic Frontotemporal Dementia.
Ivana Kirilova Kancheva, Arabella Bouzigues, Lucy Louise Russell, Phoebe H Foster, Eve Ferry-Bolder, Matthis Synofzik

Neurology· September 2025

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Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort.
Pablo Iruzubieta, David Pellerin, Catherine Ashton, Felipe Villa, Mathilde Renaud, Matthis Synofzik

J Neurol· September 2025

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Progression of biological markers in spinocerebellar ataxia type 3: longitudinal analysis of prospective data from the ESMI cohort.
Moritz Berger, Hector Garcia-Moreno, Mónica Ferreira, Jeannette Hubener-Schmid, Tamara Schaprian, Matthis Synofzik

Lancet Reg Health Eur· August 2025

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Executive Function Deficits in Genetic Frontotemporal Dementia: Results From the GENFI Study.
Lucy Louise Russell, Arabella Bouzigues, Rhian S Convery, Phoebe H Foster, Eve Ferry-Bolder, Matthis Synofzik

Neurol Genet· August 2025

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Late-onset cerebellar ataxia in three European patients with repeat expansions in RFC1 and FGF14: a case series.
Armand Hocquel, David Pellerin, Jean Loup Méreaux, Vincent Huin, Marios Hadjivassiliou, Matthis Synofzik

J Neurol· July 2025

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Structural and functional connectivity in tau mutation carriers: from presymptomatic to symptomatic frontotemporal dementia.
Arabella Bouzigues, Vincent Le Du, Matthieu Joulot, Ninon Peysson, Marion Houot, Matthis Synofzik

Alzheimers Dement· July 2025

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Disease stage-specific atrophy markers in Alzheimer's disease.
Hannah Baumeister, Helena M Gellersen, Sarah E Polk, René Lattmann, Anika Wuestefeld, Matthis Synofzik

Alzheimers Dement· July 2025

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Comparing randomized trial designs to estimate treatment effect in rare diseases with longitudinal models: a simulation study showcased by Autosomal Recessive Cerebellar Ataxias using the SARA score.
Niels Hendrickx, France Mentré, Alzahra Hamdan, Mats O Karlsson, Andrew C Hooker, Matthis Synofzik

BMC Med Res Methodol· July 2025

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