Mathis Synofzik

Affiliations

Center of Neurology, Department of Neurodegeneration and Hertie-Institute for Clinical Brain Research, University of Tuebingen, 72076, Tuebingen, Germany.
German Center for Neurodegenerative Diseases (DZNE), 72076, Tuebingen, Germany.

Publications (100)

Abnormal pain perception is associated with thalamo-cortico-striatal atrophy in

Journal of neurology, neurosurgery, and psychiatry

Avec: Rhian S Convery , Martina Bocchetta , Caroline V Greaves , Katrina M Moore , David M Cash , John Van Swieten , Fermin Moreno , Raquel Sánchez-Valle , Barbara Borroni , Robert Laforce , Mario Masellis , Maria Carmela Tartaglia , Caroline Graff , Daniela Galimberti , James B Rowe , Elizabeth Finger , Matthis Synofzik , Rik Vandenberghe , Alexandre de Mendonca , Fabrizio Tagliavini , Isabel Santana , Simon Ducharme , Christopher Butler , Alex Gerhard , Johannes Levin , Adrian Danek , Markus Otto , Jason D Warren , Jonathan D Rohrer , Auteur inconnu

Disentangling brain functional network remodeling in corticobasal syndrome - A multimodal MRI study.

NeuroImage. Clinical

Avec: Tommaso Ballarini , Franziska Albrecht , Karsten Mueller , Robert Jech , Janine Diehl-Schmid , Klaus Fliessbach , Jan Kassubek , Martin Lauer , Klaus Fassbender , Anja Schneider , Matthis Synofzik , Jens Wiltfang , Auteur inconnu , Auteur inconnu , Markus Otto , Matthias L Schroeter

A combined miRNA-piRNA signature to detect Alzheimer's disease.

Translational psychiatry

Avec: Gaurav Jain , Anne Stuendl , Pooja Rao , Tea Berulava , Tonatiuh Pena Centeno , Lalit Kaurani , Susanne Burkhardt , Ivana Delalle , Johannes Kornhuber , Michael Hüll , Wolfgang Maier , Oliver Peters , Hermann Esselmann , Claudia Schulte , Christian Deuschle , Mathis Synofzik , Jens Wiltfang , Brit Mollenhauer , Walter Maetzler , Anja Schneider , Andre Fischer

Pattern of Cerebellar Atrophy in Friedreich's Ataxia-Using the SUIT Template.

Cerebellum (London, England)

Avec: Tobias Lindig , Benjamin Bender , Vinod J Kumar , Till-Karsten Hauser , Wolfgang Grodd , Bettina Brendel , Jennifer Just , Matthis Synofzik , Uwe Klose , Klaus Scheffler , Ulrike Ernemann , Ludger Schöls

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.

Acta neuropathologica

Avec: Cyril Pottier , Yingxue Ren , Ralph B Perkerson , Matt Baker , Gregory D Jenkins , Marka van Blitterswijk , Mariely DeJesus-Hernandez , Jeroen G J van Rooij , Melissa E Murray , Elizabeth Christopher , Shannon K McDonnell , Zachary Fogarty , Anthony Batzler , Shulan Tian , Cristina T Vicente , Billie Matchett , Anna M Karydas , Ging-Yuek Robin Hsiung , Harro Seelaar , Merel O Mol , Elizabeth C Finger , Caroline Graff , Linn Öijerstedt , Manuela Neumann , Peter Heutink , Matthis Synofzik , Carlo Wilke , Johannes Prudlo , Patrizia Rizzu , Javier Simon-Sanchez , Dieter Edbauer , Sigrun Roeber , Janine Diehl-Schmid , Bret M Evers , Andrew King , M Marsel Mesulam , Sandra Weintraub , Changiz Geula , Kevin F Bieniek , Leonard Petrucelli , Geoffrey L Ahern , Eric M Reiman , Bryan K Woodruff , Richard J Caselli , Edward D Huey , Martin R Farlow , Jordan Grafman , Simon Mead , Lea T Grinberg , Salvatore Spina , Murray Grossman , David J Irwin , Edward B Lee , EunRan Suh , Julie Snowden , David Mann , Nilufer Ertekin-Taner , Ryan J Uitti , Zbigniew K Wszolek , Keith A Josephs , Joseph E Parisi , David S Knopman , Ronald C Petersen , John R Hodges , Olivier Piguet , Ethan G Geier , Jennifer S Yokoyama , Robert A Rissman , Ekaterina Rogaeva , Julia Keith , Lorne Zinman , Maria Carmela Tartaglia , Nigel J Cairns , Carlos Cruchaga , Bernardino Ghetti , Julia Kofler , Oscar L Lopez , Thomas G Beach , Thomas Arzberger , Jochen Herms , Lawrence S Honig , Jean Paul Vonsattel , Glenda M Halliday , John B Kwok , Charles L White , Marla Gearing , Jonathan Glass , Sara Rollinson , Stuart Pickering-Brown , Jonathan D Rohrer , John Q Trojanowski , Vivianna Van Deerlin , Eileen H Bigio , Claire Troakes , Safa Al-Sarraj , Yan Asmann , Bruce L Miller , Neill R Graff-Radford , Bradley F Boeve , William W Seeley , Ian R A Mackenzie , John C van Swieten , Dennis W Dickson , Joanna M Biernacka , Rosa Rademakers

ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India.

Cerebellum (London, England)

Avec: Raja A H Kuchay , Yaser Rafiq Mir , Xue Zeng , Asima Hassan , Javed Musarrat , Iqbal Parwez , Christoph Kernstock , Andreas Traschütz , Matthis Synofzik

Fall Risk in Relation to Individual Physical Activity Exposure in Patients with Different Neurodegenerative Diseases: a Pilot Study.

Cerebellum (London, England)

Avec: Karin Srulijes , Jochen Klenk , Michael Schwenk , Cornelia Schatton , Lars Schwickert , Kristin Teubner-Liepert , Miriam Meyer , Srijana K C , Walter Maetzler , Clemens Becker , Matthis Synofzik

Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood.

Movement disorders : official journal of the Movement Disorder Society

Avec: Jeannette Hübener-Schmid , Kirsten Kuhlbrodt , Julien Peladan , Jennifer Faber , Magda M Santana , Holger Hengel , Heike Jacobi , Kathrin Reetz , Hector Garcia-Moreno , Mafalda Raposo , Judith van Gaalen , Jon Infante , Katharina M Steiner , Jeroen de Vries , Marcel M Verbeek , Paola Giunti , Luis Pereira de Almeida , Manuela Lima , Bart van de Warrenburg , Ludger Schöls , Thomas Klockgether , Matthis Synofzik , Auteur inconnu , Olaf Riess

Fampridine and Acetazolamide in EA2 and Related Familial EA: A Prospective Randomized Placebo-Controlled Trial.

Neurology. Clinical practice

Avec: Carolin Muth , Julian Teufel , Ludger Schöls , Matthis Synofzik , Christiana Franke , Dagmar Timmann , Ulrich Mansmann , Michael Strupp

Feedback inhibition of cAMP effector signaling by a chaperone-assisted ubiquitin system.

Nature communications

Avec: Laura Rinaldi , Rossella Delle Donne , Bruno Catalanotti , Omar Torres-Quesada , Florian Enzler , Federica Moraca , Robert Nisticò , Francesco Chiuso , Sonia Piccinin , Verena Bachmann , Herbert H Lindner , Corrado Garbi , Antonella Scorziello , Nicola Antonino Russo , Matthis Synofzik , Ulrich Stelzl , Lucio Annunziato , Eduard Stefan , Antonio Feliciello

Cognitive composites for genetic frontotemporal dementia: GENFI-Cog.

Alzheimer's research & therapy

Avec: Jackie M Poos , Katrina M Moore , Jennifer Nicholas , Lucy L Russell , Georgia Peakman , Rhian S Convery , Lize C Jiskoot , Emma van der Ende , Esther van den Berg , Janne M Papma , Harro Seelaar , Yolande A L Pijnenburg , Fermin Moreno , Raquel Sanchez-Valle , Barbara Borroni , Robert Laforce , Mario Masellis , Carmela Tartaglia , Caroline Graff , Daniela Galimberti , James B Rowe , Elizabeth Finger , Matthis Synofzik , Rik Vandenberghe , Alexandre de Mendonça , Pietro Tiraboschi , Isabel Santana , Simon Ducharme , Chris Butler , Alexander Gerhard , Johannes Levin , Adrian Danek , Markus Otto , Isabel Le Ber , Florence Pasquier , John C van Swieten , Jonathan D Rohrer , Auteur inconnu

Differential early subcortical involvement in genetic FTD within the GENFI cohort.

NeuroImage. Clinical

Avec: Martina Bocchetta , Emily G Todd , Georgia Peakman , David M Cash , Rhian S Convery , Lucy L Russell , David L Thomas , 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 , Auteur inconnu

Network Localization of Alien Limb in Patients with Corticobasal Syndrome.

Annals of neurology

Avec: Aaron M Tetreault , Tony Phan , Kalen J Petersen , Daniel O Claassen , Byran J Neth , Jonathan Graff-Radford , Franziska Albrecht , Klaus Fliessbach , Anja Schneider , Matthis Synofzik , Janine Diehl-Schmid , Markus Otto , Matthias L Schroeter , Richard Ryan Darby , Auteur inconnu

Impairment of episodic memory in genetic frontotemporal dementia: A GENFI study.

Alzheimer's & dementia (Amsterdam, Netherlands)

Avec: Jackie M Poos , Lucy L Russell , Georgia Peakman , Martina Bocchetta , Caroline V Greaves , Lize C Jiskoot , Emma L van der Ende , Harro Seelaar , Janne M Papma , Esther van den Berg , Yolande A L Pijnenburg , Barbara Borroni , Raquel Sanchez-Valle , Fermin Moreno , Robert Laforce , Caroline Graff , Matthias Synofzik , Daniela Galimberti , James B Rowe , Mario Masellis , Carmela Tartaglia , Elizabeth Finger , Rik Vandenberghe , Alexandre de Medonça , Fabrizio Tagliavini , Chris R Butler , Isabel Santana , Isabelle Le Ber , Alex Gerhard , Simon Ducharme , Johannes Levin , Adrian Danek , Markus Otto , Sandro Sorbi , Florence Pasquier , John C van Swieten , Jonathan D Rohrer , Auteur inconnu

Comparison of clinical rating scales in genetic frontotemporal dementia within the GENFI cohort.

Journal of neurology, neurosurgery, and psychiatry

Avec: Georgia Peakman , Lucy L Russell , Rhian S Convery , Jennifer M Nicholas , John C Van Swieten , 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 , Alex Gerhard , Simon Ducharme , Isabelle Le Ber , Fabrizio Tagliavini , Isabel Santana , Florence Pasquier , Johannes Levin , Adrian Danek , Markus Otto , Sandro Sorbi , Jonathan D Rohrer , Auteur inconnu

Network structure and transcriptomic vulnerability shape atrophy in frontotemporal dementia.

Brain : a journal of neurology

Avec: Golia Shafiei , Vincent Bazinet , Mahsa Dadar , Ana L Manera , D Louis Collins , Alain Dagher , 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 , Rik Vandenberghe , Alexandre de Mendonça , Fabrizio Tagliavini , Isabel Santana , Chris Butler , Alex Gerhard , Adrian Danek , Johannes Levin , Markus Otto , Sandro Sorbi , Lize C Jiskoot , Harro Seelaar , John C van Swieten , Jonathan D Rohrer , Bratislav Misic , Simon Ducharme , Auteur inconnu , Auteur inconnu

Levels of Neurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type 1.

Neurology

Avec: Carlo Wilke , David Mengel , Ludger Schöls , Holger Hengel , Maria Rakowicz , Thomas Klockgether , Alexandra Durr , Alessandro Filla , Bela Melegh , Rebecca Schüle , Kathrin Reetz , Heike Jacobi , Matthis Synofzik

An Automated Toolbox to Predict Single Subject Atrophy in Presymptomatic Granulin Mutation Carriers.

Journal of Alzheimer's disease : JAD

Avec: Enrico Premi , Tommaso Costa , Stefano Gazzina , Alberto Benussi , Franco Cauda , Roberto Gasparotti , Silvana Archetti , Antonella Alberici , John C van Swieten , Raquel Sanchez-Valle , Fermin Moreno , Isabel Santana , Robert Laforce , Simon Ducharme , Caroline Graff , Daniela Galimberti , Mario Masellis , Carmela Tartaglia , James B Rowe , Elizabeth Finger , Fabrizio Tagliavini , Alexandre de Mendonça , Rik Vandenberghe , Alexander Gerhard , Chris R Butler , Adrian Danek , Matthis Synofzik , Johannes Levin , Markus Otto , Roberta Ghidoni , Giovanni Frisoni , Sandro Sorbi , Georgia Peakman , Emily Todd , Martina Bocchetta , Johnathan D Rohrer , Barbara Borroni , Auteur inconnu

Real-Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar Ataxia.

Movement disorders : official journal of the Movement Disorder Society

Avec: Annika Thierfelder , Jens Seemann , Natalie John , Florian Harmuth , Martin Giese , Rebecca Schüle , Ludger Schöls , Dagmar Timmann , Matthis Synofzik , Winfried Ilg

Structural brain splitting is a hallmark of Granulin-related frontotemporal dementia.

Neurobiology of aging

Avec: Stefano Gazzina , Mario Grassi , Enrico Premi , Antonella Alberici , Alberto Benussi , Silvana Archetti , Roberto Gasparotti , Martina Bocchetta , David M Cash , Emily G Todd , Georgia Peakman , Rhian S Convery , John C van Swieten , Lize C Jiskoot , Harro Seelaar , Raquel Sanchez-Valle , 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 , Chris R Butler , Isabel Santana , Alexander Gerhard , Isabelle Le Ber , Florence Pasquier , Simon Ducharme , Johannes Levin , Adrian Danek , Sandro Sorbi , Markus Otto , Jonathan D Rohrer , Barbara Borroni , Auteur inconnu

Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.

Annals of neurology

Avec: Jennifer Faber , Moritz Berger , Carlo Wilke , Jeannette Hubener-Schmid , 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 , Luís Pereira de Almeida , Patrick Silva , Maria M Pinto , Bart P van de Warrenburg , Judith van Gaalen , Jeroen de Vries , Gulin Oz , 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

The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors.

Journal of neurology

Avec: Holger Hengel , Peter Martus , Jennifer Faber , Paola Giunit , Hector Garcia-Moreno , Nita Solanky , Thomas Klockgether , Kathrin Reetz , Bart P van de Warrenburg , Magda M Santana , Patrick Silva , Inês Cunha , Luís Pereira de Almeida , Dagmar Timmann , Jon Infante , Jeroen de Vries , Manuela Lima , Paula Pires , Khalaf Bushara , Heike Jacobi , Chiadi Onyike , Jeremy D Schmahmann , Jeannette Hübener-Schmid , Matthis Synofzik , Auteur inconnu , Ludger Schöls

Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3.

Movement disorders : official journal of the Movement Disorder Society

Avec: Roderick P P W M Maas , Steven Teerenstra , Manuela Lima , Paula Pires , Luís 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-Schmid , Jeroen J de Vries , Matthis Synofzik , Ludger Schöls , Hector Garcia-Moreno , Paola Giunti , Jennifer Faber , Thomas Klockgether , Bart P C van de Warrenburg

Elevated CSF and plasma complement proteins in genetic frontotemporal dementia: results from the GENFI study.

Journal of neuroinflammation

Avec: Emma L van der Ende , Carolin Heller , Aitana Sogorb-Esteve , Imogen J Swift , David McFall , Georgia Peakman , Arabella Bouzigues , Jackie M Poos , Lize C Jiskoot , Jessica L Panman , Janne M Papma , Lieke H Meeter , Elise G P Dopper , Martina Bocchetta , Emily Todd , David Cash , Caroline Graff , Matthis Synofzik , Fermin Moreno , Elizabeth Finger , Raquel Sanchez-Valle , Rik Vandenberghe , Robert Laforce , Mario Masellis , Maria Carmela Tartaglia , James B Rowe , Chris Butler , Simon Ducharme , Alexander Gerhard , Adrian Danek , Johannes Levin , Yolande A L Pijnenburg , Markus Otto , Barbara Borroni , Fabrizio Tagliavini , Alexandre de Mendonça , Isabel Santana , Daniela Galimberti , Sandro Sorbi , Henrik Zetterberg , Eric Huang , John C van Swieten , Jonathan D Rohrer , Harro Seelaar , Auteur inconnu

Motor symptoms in genetic frontotemporal dementia: developing a new module for clinical rating scales.

Journal of neurology

Avec: Kiran Samra , Amy M MacDougall , Georgia Peakman , Arabella Bouzigues , Martina Bocchetta , David M Cash , Caroline V Greaves , Rhian S Convery , John C van Swieten , Lize Jiskoot , Harro Seelaar , Fermin Moreno , Raquel Sanchez-Valle , Robert Laforce , Caroline Graff , Mario Masellis , 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 , Pietro Tiraboschi , Isabel Santana , Florence Pasquier , Johannes Levin , Markus Otto , Sandro Sorbi , Jonathan D Rohrer , Lucy L Russell , Auteur inconnu

The Benson Complex Figure Test detects deficits in visuoconstruction and visual memory in symptomatic familial frontotemporal dementia: A GENFI study.

Journal of the neurological sciences

Avec: Lize C Jiskoot , Lucy L Russell , Georgia Peakman , Rhian S Convery , Caroline V Greaves , Martina Bocchetta , Jackie M Poos , Harro Seelaar , Lucia A A Giannini , John C van Swieten , Rick van Minkelen , Yolande A L Pijnenburg , James B Rowe , Barbara Borroni , Daniela Galimberti , Mario Masellis , Carmela Tartaglia , Elizabeth Finger , Chris R Butler , Caroline Graff , Robert 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 , David M Cash , David Thomas , Jonathan D Rohrer , Auteur inconnu

TR-FRET-Based Immunoassay to Measure Ataxin-2 as a Target Engagement Marker in Spinocerebellar Ataxia Type 2.

Molecular neurobiology

Avec: Jessica Bux , Nesli Ece Sen , Isa-Maria Klink , Stefan Hauser , Matthis Synofzik , Ludger Schöls , Georg Auburger , Olaf Riess , Jeannette Hübener-Schmid

Scale for the Assessment and Rating of Ataxia (SARA): Development of a Training Tool and Certification Program.

Cerebellum (London, England)

Avec: Marcus Grobe-Einsler , Arian Taheri Amin , Jennifer Faber , Hartmut Völkel , Matthis Synofzik , Thomas Klockgether

Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance.

Cerebellum (London, England)

Avec: Thomas Klockgether , Matthis Synofzik , Auteur inconnu

A common flanking variant is associated with enhanced meiotic stability of the

bioRxiv : the preprint server for biology

Avec: 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 , Auteur inconnu , Bernard Brais , Stephan Zuchner , Matt C Danzi

Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.

Annals of neurology

Avec: Andreas Traschütz , Astrid D Adarmes-Gómez , Mathieu Anheim , Jonathan Baets , Bernard Brais , Cynthia Gagnon , Janina Gburek-Augustat , Sarah Doss , Haşmet A Hanağası , Christoph Kamm , Peter Klivenyi , Thomas Klockgether , Thomas Klopstock , Martina Minnerop , Alexander Münchau , Mathilde Renaud , Filippo M Santorelli , Ludger Schöls , Andreas Thieme , Stefan Vielhaber , Bart P van de Warrenburg , Ginevra Zanni , Ralf-Dieter Hilgers , Auteur inconnu , Matthis Synofzik

Prodromal language impairment in genetic frontotemporal dementia within the GENFI cohort.

Journal of the neurological sciences

Avec: Kiran Samra , Amy M MacDougall , Arabella Bouzigues , Martina Bocchetta , David M Cash , Caroline V Greaves , Rhian S Convery , John C van Swieten , Lize Jiskoot , Harro Seelaar , 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 , Alex Gerhard , Simon Ducharme , Isabelle Le Ber , Pietro Tiraboschi , Isabel Santana , Florence Pasquier , Johannes Levin , Markus Otto , Sandro Sorbi , Jonathan D Rohrer , Lucy L Russell , Auteur inconnu

Altered brain dynamics index levels of arousal in complete locked-in syndrome.

Communications biology

Avec: Federico Zilio , Javier Gomez-Pilar , Ujwal Chaudhary , Stuart Fogel , Tatiana Fomina , Matthis Synofzik , Ludger Schöls , Shumei Cao , Jun Zhang , Zirui Huang , Niels Birbaumer , Georg Northoff

Neurofilaments and progranulin are related to atrophy in frontotemporal lobar degeneration - A transdiagnostic study cross-validating atrophy and fluid biomarkers.

Alzheimer's & dementia : the journal of the Alzheimer's Association

Avec: Lea Hüper , Petra Steinacker , Maryna Polyakova , Karsten Mueller , Jannis Godulla , Sabine Herzig , Adrian Danek , Annerose Engel , Janine Diehl-Schmid , Joseph Classen , Klaus Fassbender , Klaus Fliessbach , Holger Jahn , Jan Kassubek , Johannes Kornhuber , Bernhard Landwehrmeyer , Martin Lauer , Hellmuth Obrig , Patrick Oeckl , Johannes Prudlo , Dorothee Saur , Sarah Anderl-Straub , Matthis Synofzik , Matias Wagner , Jens Wiltfang , Juliane Winkelmann , Alexander E Volk , Auteur inconnu , Hans-Jürgen Huppertz , Markus Otto , Matthias L Schroeter

Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders.

Journal of neurology

Avec: Julien Park , Tatiana Bremova-Ertl , Marion Brands , Tomas Foltan , Matthias Gautschi , Paul Gissen , Andreas Hahn , Simon Jones , Laila Arash-Kaps , Miriam Kolnikova , Marc Patterson , Susan Perlman , Uma Ramaswami , Stella Reichmannová , Marianne Rohrbach , Susanne A Schneider , Aasef Shaikh , Siyamini Sivananthan , Matthis Synofzik , Mark Walterfarng , Pierre Wibawa , Kyriakos Martakis , Mario Manto

Postural control in episodic ataxia type 2: no evidence for increased vestibular excitability.

European journal of neurology

Avec: Janina von der Gablentz , Nina Overbeeke , Dagmar Timmann , Christos Ganos , Matthis Synofzik , Norbert Brüggemann , Christoph Helmchen , Andreas Sprenger

Real-life gait assessment in degenerative cerebellar ataxia: Toward ecologically valid biomarkers.

Neurology

Avec: Winfried Ilg , Jens Seemann , Martin Giese , Andreas Traschütz , Ludger Schöls , Dagmar Timmann , Matthis Synofzik

Multifocal, hypoechogenic nerve thickening in Cerebrotendinous Xanthomatosis.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

Avec: Benjamin Roeben , Jennifer Just , Holger Hengel , Friedemann Bender , Peter Pöschl , Matthis Synofzik , Ludger Schöls , Alexander Grimm

Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice.

EMBO molecular medicine

Avec: 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 , Auteur inconnu , Christian Barro , Jeannette Hübener-Schmid , Matthis Synofzik

Delineating

Neurology. Genetics

Avec: Claudia Stendel , Christiane Neuhofer , Elisa Floride , Shi Yuqing , Rebecca D Ganetzky , Joohyun Park , Peter Freisinger , Cornelia Kornblum , Stephanie Kleinle , Ludger Schöls , Felix Distelmaier , Georg M Stettner , Boriana Büchner , Marni J Falk , Johannes A Mayr , Matthis Synofzik , Angela Abicht , Tobias B Haack , Holger Prokisch , Saskia B Wortmann , Kei Murayama , Fang Fang , Thomas Klopstock , Auteur inconnu

White matter hyperintensities in progranulin-associated frontotemporal dementia: A longitudinal GENFI study.

NeuroImage. Clinical

Avec: Carole H Sudre , Martina Bocchetta , Carolin Heller , Rhian Convery , Mollie Neason , Katrina M Moore , David M Cash , David L Thomas , Ione O C Woollacott , Martha Foiani , Amanda Heslegrave , Rachelle Shafei , Caroline Greaves , John van Swieten , Fermin Moreno , Raquel Sanchez-Valle , Barbara Borroni , Robert Laforce , Mario Masellis , Maria Carmela Tartaglia , Caroline Graff , Daniela Galimberti , James B Rowe , Elizabeth Finger , Matthis Synofzik , Rik Vandenberghe , Alexandre de Mendonça , Fabrizio Tagliavini , Isabel Santana , Simon Ducharme , Chris Butler , Alex Gerhard , Johannes Levin , Adrian Danek , Giovanni B Frisoni , Sandro Sorbi , Markus Otto , Henrik Zetterberg , Sebastien Ourselin , M Jorge Cardoso , Jonathan D Rohrer , Auteur inconnu

Real-time use of audio-biofeedback can improve postural sway in patients with degenerative ataxia.

Annals of clinical and translational neurology

Avec: Zofia Fleszar , Sabato Mellone , Martin Giese , Carlo Tacconi , Clemens Becker , Ludger Schöls , Matthis Synofzik , Winfried Ilg

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.

American journal of human genetics

Avec: Mohammad Ali Farazi Fard , Adriana P Rebelo , Elena Buglo , Hamid Nemati , Hassan Dastsooz , Ina Gehweiler , Selina Reich , Jennifer Reichbauer , Beatriz Quintáns , Andrés Ordóñez-Ugalde , Andrea Cortese , Steve Courel , Lisa Abreu , Eric Powell , Matt C Danzi , Nicole B Martuscelli , Dana M Bis-Brewer , Feifei Tao , Fariba Zarei , Parham Habibzadeh , Majid Yavarian , Farzaneh Modarresi , Mohammad Silawi , Zahra Tabatabaei , Masoume Yousefi , Hamid Reza Farpour , Christoph Kessler , Elisabeth Mangold , Xenia Kobeleva , Ivailo Tournev , Teodora Chamova , Amelie J Mueller , Tobias B Haack , Mark Tarnopolsky , Ziv Gan-Or , Guy A Rouleau , Matthis Synofzik , María-Jesús Sobrido , Albena Jordanova , Rebecca Schüle , Stephan Zuchner , Mohammad Ali Faghihi

Correlations between serum and CSF pNfH levels in ALS, FTD and controls: a comparison of three analytical approaches.

Clinical chemistry and laboratory medicine

Avec: Carlo Wilke , Fani Pujol-Calderón , Christian Barro , Elke Stransky , Kaj Blennow , Zuzanna Michalak , Christian Deuschle , Andreas Jeromin , Henrik Zetterberg , Rebecca Schüle , Kina Höglund , Jens Kuhle , Matthis Synofzik

MRI data-driven algorithm for the diagnosis of behavioural variant frontotemporal dementia.

Journal of neurology, neurosurgery, and psychiatry

Avec: Ana L Manera , Mahsa Dadar , John Cornelis Van Swieten , Barbara Borroni , Raquel Sanchez-Valle , Fermin Moreno , Robert Laforce , Caroline Graff , Matthis Synofzik , Daniela Galimberti , James Benedict Rowe , Mario Masellis , Maria Carmela Tartaglia , Elizabeth Finger , Rik Vandenberghe , Alexandre de Mendonca , Fabrizio Tagliavini , Isabel Santana , Christopher R Butler , Alex Gerhard , Adrian Danek , Johannes Levin , Markus Otto , Giovanni Frisoni , Roberta Ghidoni , Sandro Sorbi , Jonathan Daniel Rohrer , Simon Ducharme , D Louis Collins , Auteur inconnu , Auteur inconnu

Fluid biomarkers in frontotemporal dementia: past, present and future.

Journal of neurology, neurosurgery, and psychiatry

Avec: Imogen Joanna Swift , Aitana Sogorb-Esteve , Carolin Heller , Matthis Synofzik , Markus Otto , Caroline Graff , Daniela Galimberti , Emily Todd , Amanda J Heslegrave , Emma Louise van der Ende , John Cornelis Van Swieten , Henrik Zetterberg , Jonathan Daniel Rohrer

Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort.

Cortex; a journal devoted to the study of the nervous system and behavior

Avec: Lucy L Russell , Caroline V Greaves , Martina Bocchetta , Jennifer Nicholas , Rhian S Convery , Katrina Moore , David M Cash , John van Swieten , Lize Jiskoot , Fermin Moreno , Raquel Sanchez-Valle , Barbara Borroni , Robert Laforce , Mario Masellis , Maria Carmela Tartaglia , Caroline Graff , Emanuela Rotondo , Daniela Galimberti , James B Rowe , Elizabeth Finger , Matthis Synofzik , Rik Vandenberghe , Alexandre de Mendonça , Fabrizio Tagliavini , Isabel Santana , Simon Ducharme , Chris Butler , Alex Gerhard , Johannes Levin , Adrian Danek , Markus Otto , Jason D Warren , Jonathan D Rohrer , Auteur inconnu

Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.

Neurology

Avec: Andreas Traschütz , Andrea Cortese , Selina Reich , Natalia Dominik , Jennifer Faber , Heike Jacobi , Annette M Hartmann , Dan Rujescu , Solveig Montaut , Andoni Echaniz-Laguna , Sevda Erer , Valerie Cornelia Schütz , Alexander A Tarnutzer , Marc Sturm , Tobias B Haack , Nadège Vaucamps-Diedhiou , Helene Puccio , Ludger Schöls , Thomas Klockgether , Bart P van de Warrenburg , Martin Paucar , Dagmar Timmann , Ralf-Dieter Hilgers , Jose Gazulla , Michael Strupp , German Moris , Alessandro Filla , Henry Houlden , Mathieu Anheim , Jon Infante , A Nazli Basak , Matthis Synofzik , Auteur inconnu

Disease-related cortical thinning in presymptomatic granulin mutation carriers.

NeuroImage. Clinical

Avec: Sergi Borrego-Écija , Roser Sala-Llonch , John van Swieten , Barbara Borroni , Fermín Moreno , Mario Masellis , Carmela Tartaglia , Caroline Graff , Daniela Galimberti , Robert Laforce , James B Rowe , Elizabeth Finger , Rik Vandenberghe , Fabrizio Tagliavini , Alexandre de Mendonça , Isabel Santana , Matthis Synofzik , Simon Ducharme , Johannes Levin , Adrian Danek , Alex Gerhard , Markus Otto , Chris Butler , Giovanni Frisoni , Sandro Sorbi , Carolin Heller , Martina Bocchetta , David M Cash , Rhian S Convery , Katrina M Moore , Jonathan D Rohrer , Raquel Sanchez-Valle , Auteur inconnu

Validation of a German version of the Cerebellar Cognitive Affective/ Schmahmann Syndrome Scale: preliminary version and study protocol.

Neurological research and practice

Avec: Andreas Thieme , Sandra Roeske , Jennifer Faber , Patricia Sulzer , Martina Minnerop , Saskia Elben , Heike Jacobi , Kathrin Reetz , Imis Dogan , Miriam Barkhoff , Juergen Konczak , Elke Wondzinski , Mario Siebler , Oliver Mueller , Ulrich Sure , Jeremy D Schmahmann , Thomas Klockgether , Matthis Synofzik , Dagmar Timmann

Dissemination in time and space in presymptomatic granulin mutation carriers: a GENFI spatial chronnectome study.

Neurobiology of aging

Avec: Enrico Premi , Marcello Giunta , Armin Iraji , Srinivas Rachakonda , Vince D Calhoun , Stefano Gazzina , Alberto Benussi , Roberto Gasparotti , Silvana Archetti , Martina Bocchetta , Dave Cash , Emily Todd , Georgia Peakman , Rhian Convery , John C van Swieten , Lize Jiskoot , Raquel Sanchez-Valle , Fermin Moreno , Robert Laforce , Caroline Graff , Matthis Synofzik , Daniela Galimberti , James B Rowe , Mario Masellis , Carmela Tartaglia , Elizabeth Finger , Rik Vandenberghe , Alexandre de Mendonça , Fabrizio Tagliavini , Chris R Butler , Isabel Santana , Alexander Gerhard , Isabelle Le Ber , Florence Pasquier , Simon Ducharme , Johannes Levin , Adrian Danek , Sandro Sorbi , Markus Otto , Jonathan D Rohrer , Barbara Borroni , Auteur inconnu

Characterizing the Clinical Features and Atrophy Patterns of

Neurology

Avec: Alexandra L Young , Martina Bocchetta , Lucy L Russell , Rhian S Convery , Georgia Peakman , Emily Todd , David M Cash , Caroline V Greaves , John van Swieten , Lize Jiskoot , Harro Seelaar , Fermin Moreno , Raquel Sanchez-Valle , Barbara Borroni , Robert Laforce , Mario Masellis , Maria Carmela Tartaglia , Caroline Graff , Daniela Galimberti , James B Rowe , Elizabeth Finger , Matthis Synofzik , Rik Vandenberghe , Alexandre de Mendonça , Fabrizio Tagliavini , Isabel Santana , Simon Ducharme , Chris Butler , Alex Gerhard , Johannes Levin , Adrian Danek , Markus Otto , Sandro Sorbi , Steven C R Williams , Daniel C Alexander , Jonathan D Rohrer , Auteur inconnu

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.

The New England journal of medicine

Avec: Jack J Collier , Claire Guissart , Monika Oláhová , Souphatta Sasorith , Florence Piron-Prunier , Fumi Suomi , David Zhang , Nuria Martinez-Lopez , Nicolas Leboucq , Angela Bahr , Silvia Azzarello-Burri , Selina Reich , Ludger Schöls , Tuomo M Polvikoski , Pierre Meyer , Lise Larrieu , Andrew M Schaefer , Hessa S Alsaif , Suad Alyamani , Stephan Zuchner , Inês A Barbosa , Charu Deshpande , Angela Pyle , Anita Rauch , Matthis Synofzik , Fowzan S Alkuraya , François Rivier , Mina Ryten , Robert McFarland , Agnès Delahodde , Thomas G McWilliams , Michel Koenig , Robert W Taylor

Natural History of Polymerase Gamma-Related Ataxia.

Movement disorders : official journal of the Movement Disorder Society

Avec: Friedemann Bender , Dagmar Timmann , Bart P van de Warrenburg , Astrid D Adarmes-Gómez , Benjamin Bender , Andreas Thieme , Matthis Synofzik , Ludger Schöls

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.

Movement disorders : official journal of the Movement Disorder Society

Avec: 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 , Auteur inconnu , Rebecca Schüle , Giovanni Stevanin , Matthis Synofzik , A Nazli Basak , Jonathan Baets

Anomia is present pre-symptomatically in frontotemporal dementia due to MAPT mutations.

Journal of neurology

Avec: Arabella Bouzigues , Lucy L Russell , Georgia Peakman , Martina Bocchetta , Caroline V Greaves , Rhian S Convery , Emily Todd , James B Rowe , Barbara Borroni , Daniela Galimberti , Pietro Tiraboschi , Mario Masellis , Maria Carmela Tartaglia , Elizabeth Finger , John C van Swieten , Harro Seelaar , Lize Jiskoot , Sandro Sorbi , Chris R Butler , Caroline Graff , Alexander Gerhard , Tobias Langheinrich , Robert Laforce , Raquel Sanchez-Valle , Alexandre de Mendonça , Fermin Moreno , Matthis Synofzik , Rik Vandenberghe , Simon Ducharme , Isabelle Le Ber , Johannes Levin , Adrian Danek , Markus Otto , Florence Pasquier , Isabel Santana , Jonathan D Rohrer , Auteur inconnu

The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study.

Brain : a journal of neurology

Avec: 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

Neurofilament light levels predict clinical progression and death in multiple system atrophy.

Brain : a journal of neurology

Avec: Viorica Chelban , 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 , Tom 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

Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.

Human molecular genetics

Avec: 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

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Joohyun Park , Arianna Tucci , Valentina Cipriani , German Demidov , Clarissa Rocca , Jan Senderek , Michaela Butryn , Ana Velic , Tanya Lam , Evangelia Galanaki , Elisa Cali , Letizia Vestito , Reza Maroofian , Natalie Deininger , Maren Rautenberg , Jakob Admard , Gesa-Astrid Hahn , Claudius Bartels , Nienke J H van Os , Rita Horvath , Patrick F Chinnery , May Yung Tiet , Channa Hewamadduma , Marios Hadjivassiliou , George K Tofaris , Auteur inconnu , Nicholas W Wood , Stefanie N Hayer , Friedemann Bender , Benita Menden , Isabell Cordts , Katrin Klein , Huu Phuc Nguyen , Joachim K Krauss , Christian Blahak , Tim M Strom , Marc Sturm , Bart van de Warrenburg , Holger Lerche , Boris Maček , Matthis Synofzik , Stephan Ossowski , Dagmar Timmann , Marc E Wolf , Damian Smedley , Olaf Riess , Ludger Schöls , Henry Houlden , Tobias B Haack , Holger Hengel

Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia.

Movement disorders : official journal of the Movement Disorder Society

Avec: Thiago J R 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 C França

Temporal dynamics predict symptom onset and cognitive decline in familial frontotemporal dementia.

Alzheimer's & dementia : the journal of the Alzheimer's Association

Avec: David J Whiteside , Maura Malpetti , P Simon Jones , Boyd C P Ghosh , Ian Coyle-Gilchrist , John C van Swieten , Harro Seelaar , Lize Jiskoot , Barbara Borroni , Raquel Sanchez-Valle , Fermin Moreno , Robert Laforce , Caroline Graff , Matthis Synofzik , Daniela Galimberti , Mario Masellis , Maria Carmela Tartaglia , Elizabeth Finger , Rik Vandenberghe , Alexandre de Mendonça , Fabrizio Tagliavini , Chris R Butler , Isabel Santana , Isabelle Le Ber , Alexander Gerhard , Simon Ducharme , Johannes Levin , Adrian Danek , Markus Otto , Sandro Sorbi , Florence Pasquier , Arabella Bouzigues , Lucy L Russell , Jonathan D Rohrer , James B Rowe , Timothy Rittman , Auteur inconnu

Neurodevelopmental effects of genetic frontotemporal dementia in young adult mutation carriers.

Brain : a journal of neurology

Avec: 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 , Lize C Jiskoot , 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 , Auteur inconnu

Speech and Nonspeech Parameters in the Clinical Assessment of Dysarthria: A Dimensional Analysis.

Brain sciences

Avec: 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

Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia.

Movement disorders : official journal of the Movement Disorder Society

Avec: 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

Ataxia and spastic paraplegia in mitochondrial disease.

Handbook of clinical neurology

Avec: Matthis Synofzik , Elena Rugarli , Evan Reid , Rebecca Schüle

Language impairment in the genetic forms of behavioural variant frontotemporal dementia.

Journal of neurology

Avec: Kiran Samra , Amy M MacDougall , Arabella Bouzigues , Martina Bocchetta , David M Cash , Caroline V Greaves , Rhian S Convery , John C van Swieten , Harro Seelaar , Lize 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 , Christopher R Butler , Alexander Gerhard , Simon Ducharme , Isabelle Le Ber , Pietro Tiraboschi , Isabel Santana , Florence Pasquier , Johannes Levin , Markus Otto , Sandro Sorbi , Jonathan D Rohrer , Lucy L Russell , Auteur inconnu

Blood neurofilament light chain levels are associated with disease progression in a transgenic SCA3 mouse model.

bioRxiv : the preprint server for biology

Avec: 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

Structural MRI predicts clinical progression in presymptomatic genetic frontotemporal dementia: findings from the GENetic Frontotemporal dementia Initiative cohort.

Brain communications

Avec: 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 , Auteur inconnu

Blood levels of neurofilament light are associated with disease progression in a mouse model of spinocerebellar ataxia type 3.

Disease models & mechanisms

Avec: 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

Neuropathy target esterase activity predicts retinopathy among

bioRxiv : the preprint server for biology

Avec: 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

Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients.

Brain communications

Avec: 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

A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.

Alzheimer's research & therapy

Avec: Imogen J Swift , Rosa Rademakers , NiCole Finch , Matt Baker , Roberta Ghidoni , Luisa Benussi , Giuliano Binetti , Giacomina Rossi , Matthis Synofzik , Carlo Wilke , David Mengel , Caroline Graff , Leonel T Takada , Raquel Sánchez-Valle , Anna Antonell , Daniela Galimberti , Chiara Fenoglio , Maria Serpente , Marina Arcaro , Stefanie Schreiber , Stefan Vielhaber , Philipp Arndt , Isabel Santana , Maria Rosario Almeida , Fermín Moreno , Myriam Barandiaran , Alazne Gabilondo , Johannes Stubert , Estrella Gómez-Tortosa , Pablo Agüero , M José Sainz , Tomohito Gohda , Maki Murakoshi , Nozomu Kamei , Sarah Kittel-Schneider , Andreas Reif , Johannes Weigl , Jinlong Jian , Chuanju Liu , Ginette Serrero , Thomas Greither , Gerit Theil , Ebba Lohmann , Stefano Gazzina , Silvia Bagnoli , Giovanni Coppola , Amalia Bruni , Mirja Quante , Wieland Kiess , Andreas Hiemisch , Anne Jurkutat , Matthew S Block , Aaron M Carlson , Geir Bråthen , Sigrid Botne Sando , Gøril Rolfseng Grøntvedt , Camilla Lauridsen , Amanda Heslegrave , Carolin Heller , Emily Abel , Alba Gómez-Núñez , Roger Puey , Andrea Arighi , Enmanuela Rotondo , Lize C Jiskoot , Lieke H H Meeter , João Durães , Marisa Lima , Miguel Tábuas-Pereira , João Lemos , Bradley Boeve , Ronald C Petersen , Dennis W Dickson , Neill R Graff-Radford , Isabelle LeBer , Leila Sellami , Foudil Lamari , Fabienne Clot , Barbara Borroni , Valentina Cantoni , Jasmine Rivolta , Alberto Lleó , Juan Fortea , Daniel Alcolea , Ignacio Illán-Gala , Lucie Andres-Cerezo , Philip Van Damme , Jordi Clarimon , Petra Steinacker , Emily Feneberg , Markus Otto , Emma L van der Ende , John C van Swieten , Harro Seelaar , Henrik Zetterberg , Aitana Sogorb-Esteve , Jonathan D Rohrer

Altered plasma protein profiles in genetic FTD - a GENFI study.

Molecular neurodegeneration

Avec: Abbe Ullgren , Linn Öijerstedt , Jennie Olofsson , Sofia Bergström , Julia Remnestål , John C van Swieten , Lize C Jiskoot , Harro Seelaar , Barbara Borroni , Raquel Sanchez-Valle , Fermin Moreno , Robert Laforce , Matthis Synofzik , Daniela Galimberti , James B Rowe , Mario Masellis , Maria Carmela Tartaglia , Elizabeth Finger , Rik Vandenberghe , Alexandre de Mendonça , Pietro Tirabosch , Isabel Santana , Simon Ducharme , Chris R Butler , Alexander Gerhard , Markus Otto , Arabella Bouzigues , Lucy Russell , Imogen J Swift , Aitana Sogorb-Esteve , Carolin Heller , Jonathan D Rohrer , Anna Månberg , Peter Nilsson , Caroline Graff , Auteur inconnu

RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile.

Journal of neurology

Avec: David Pellerin , Felix Heindl , Andreas Traschütz , Dan Rujescu , Annette M Hartmann , Bernard Brais , Henry Houlden , Claudia Dufke , Olaf Riess , Tobias Haack , Michael Strupp , Matthis Synofzik

Impaired glymphatic system in genetic frontotemporal dementia: a GENFI study.

Brain communications

Avec: Enrico Premi , Matteo Diano , Irene Mattioli , Daniele Altomare , Valentina Cantoni , Martina Bocchetta , Roberto Gasparotti , Emanuele Buratti , Marta Pengo , Arabella Bouzigues , Lucy L Russell , Phoebe H Foster , Eve Ferry-Bolder , Carolin Heller , John C van Swieten , Lize C Jiskoot , Harro Seelaar , Fermin Moreno , Raquel Sanchez-Valle , Daniela Galimberti , Robert Laforce , Caroline Graff , Mario Masellis , Maria Carmela Tartaglia , James B Rowe , Elizabeth Finger , Rik Vandenberghe , Alexandre de Mendonça , Chris R Butler , Alexander Gerhard , Simon Ducharme , Isabelle Le Ber , Pietro Tiraboschi , Isabel Santana , Florence Pasquier , Matthis Synofzik , Johannes Levin , Markus Otto , Sandro Sorbi , Jonathan D Rohrer , Barbara Borroni , Auteur inconnu

Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) Instrument in Spinocerebellar Ataxia.

Cerebellum (London, England)

Avec: Michele Potashman , Katja Rudell , Ivanna Pavisic , Naomi Suminski , Rinchen Doma , Maggie Heinrich , Linda Abetz-Webb , Melissa Wolfe Beiner , Sheng-Han Kuo , Liana S Rosenthal , Theresa Zesiwicz , Terry D Fife , Bart P van de Warrenburg , Giovanni Ristori , Matthis Synofzik , Susan Perlman , Jeremy D Schmahmann , Gilbert L'Italien

Clinical Manifestations.

Alzheimer's & dementia : the journal of the Alzheimer's Association

Avec: Emily G Todd , Arabella Bouzigues , Phoebe H Foster , Eve Ferry-Bolder , Georgia Peakman , Martina Bocchetta , David M Cash , Caroline V Greaves , Rhian S Convery , John C van Swieten , Lize C Jiskoot , Harro Seelaar , Fermin Moreno , Raquel Sanchez-Valle , Robert Laforce , Caroline Graff , Mario Masellis , Carmela Tartaglia , James B Rowe , Barbara Borroni , Elizabeth Finger , Matthis Synofzik , Daniela Galimberti , Rik Vandenberghe , Alexandre Mendonca , Christopher Butler , Alexander Gerhard , Simon Ducharme , Isabelle Le Ber , Pietro Tiraboschi , Isabel Santana , Florence Pasquier , Johannes Levin , Markus Otto , Sandro Sorbi , Jonathan D Rohrer , Lucy L Russell , Auteur inconnu

Alzheimer's & dementia : the journal of the Alzheimer's Association

Avec: Maurice Pasternak , Saira S Mirza , Nicholas Luciw , Henri J M M Mutsaerts , Jan Petr , David Thomas , David Cash , Martina Bocchetta , Maria Carmela Tartaglia , Sara B Mitchell , Sandra E Black , Morris Freedman , David Tang-Wai , Ekaterina Rogaeva , Lucy L Russell , Arabella Bouzigues , John C van Swieten , Lize C Jiskoot , Harro Seelaar , Robert Laforce , Pietro Tiraboschi , Barbara Borroni , Daniela Galimberti , James B Rowe , Caroline Graff , Elizabeth Finger , Sandro Sorbi , Alexandre de Mendonça , Chris Butler , Alex Gerhard , Raquel Sanchez-Valle , Fermin Moreno , Matthis Synofzik , Rik Vandenberghe , Simon Ducharme , Johannes Levin , Markus Otto , Isabel Santana , Antonio P Strafella , Bradley J MacIntosh , Jonathan D Rohrer , Mario Masellis , Auteur inconnu

Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.

Nature communications

Avec: Lars Mohren , Friedrich Erdlenbruch , Elsa Leitão , Fabian Kilpert , G Sebastian Hönes , Sabine Kaya , Christopher Schröder , Andreas Thieme , Marc Sturm , Joohyun Park , Agatha Schlüter , Montserrat Ruiz , Moisés Morales de la Prida , Carlos Casasnovas , Kerstin Becker , Ulla Roggenbuck , Sonali Pechlivanis , Frank J Kaiser , Matthis Synofzik , Thomas Wirth , Mathieu Anheim , Tobias B Haack , Paul J Lockhart , Karl-Heinz Jöckel , Aurora Pujol , Stephan Klebe , Dagmar Timmann , Christel Depienne

Sacsin levels in PBMCs: A diagnostic assay for SACS variants in peripheral blood cells - A PROSPAX study.

Movement disorders : official journal of the Movement Disorder Society

Avec: Ceren Tunca , Eylül Ece İşlek Camadan , Natalia Smolina , Robin J Palvadeau , Özgür Öztop Çakmak , Atay Vural , Andreas Traschütz , Filippo M Santorelli , Bernard Brais , Rebecca Schüle , Matthis Synofzik , A Nazlı Başak

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

Orphanet journal of rare diseases

Avec: María-Jesús Sobrido , Peter Bauer , Tom de Koning , Thomas Klopstock , Yann Nadjar , Marc C Patterson , Matthis Synofzik , Chris J Hendriksz

Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies.

Neuron

Avec: Matthis Synofzik , Hélène Puccio , Fanny Mochel , Ludger Schöls

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.

Annals of neurology

Avec: Leonardo Caporali , Stefania Magri , Andrea Legati , Valentina Del Dotto , Francesca Tagliavini , Francesca Balistreri , Alessia Nasca , Chiara La Morgia , Michele Carbonelli , Maria L Valentino , Eleonora Lamantea , Silvia Baratta , Ludger Schöls , Rebecca Schüle , Piero Barboni , Maria L Cascavilla , Alessandra Maresca , Mariantonietta Capristo , Anna Ardissone , Davide Pareyson , Gabriella Cammarata , Lisa Melzi , Massimo Zeviani , Lorenzo Peverelli , Costanza Lamperti , Stefania B Marzoli , Mingyan Fang , Matthis Synofzik , Daniele Ghezzi , Valerio Carelli , Franco Taroni

Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Journal of the neurological sciences

Avec: Dax Bourcier , Mathieu Bélanger , Isabelle Côté , Bernard Brais , Matthis Synofzik , Jean-Denis Brisson , Xavier Rodrigue , Maude-Marie Gagnon , Jean Mathieu , Cynthia Gagnon

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.

Orphanet journal of rare diseases

Avec: Antonio Atalaia , Rachel Thompson , Alberto Corvo , Leigh Carmody , Davide Piscia , Leslie Matalonga , Alfons Macaya , Angela Lochmuller , Bertrand Fontaine , Birte Zurek , Carles Hernandez-Ferrer , Carola Reinhard , David Gómez-Andrés , Jean-François Desaphy , Katherine Schon , Katja Lohmann , Matthew J Jennings , Matthis Synofzik , Olaf Riess , Rabah Ben Yaou , Teresinha Evangelista , Thiloka Ratnaike , Virginie Bros-Facer , Gulcin Gumus , Rita Horvath , Patrick Chinnery , Steven Laurie , Holm Graessner , Peter Robinson , Hanns Lochmuller , Sergi Beltran , Gisèle Bonne

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

Nature genetics

Avec: Andrea Cortese , Yi Zhu , Adriana P Rebelo , Sara Negri , Steve Courel , Lisa Abreu , Chelsea J Bacon , Yunhong Bai , Dana M Bis-Brewer , Enrico Bugiardini , Elena Buglo , Matt C Danzi , Shawna M E Feely , Alkyoni Athanasiou-Fragkouli , Nourelhoda A Haridy , Auteur inconnu , Rosario Isasi , Alaa Khan , Matilde Laurà , Stefania Magri , Menelaos Pipis , Chiara Pisciotta , Eric Powell , Alexander M Rossor , Paola Saveri , Janet E Sowden , Stefano Tozza , Jana Vandrovcova , Julia Dallman , Elena Grignani , Enrico Marchioni , Steven S Scherer , Beisha Tang , Zhiqiang Lin , Abdullah Al-Ajmi , Rebecca Schüle , Matthis Synofzik , Thierry Maisonobe , Tanya Stojkovic , Michaela Auer-Grumbach , Mohamed A Abdelhamed , Sherifa A Hamed , Ruxu Zhang , Fiore Manganelli , Lucio Santoro , Franco Taroni , Davide Pareyson , Henry Houlden , David N Herrmann , Mary M Reilly , Michael E Shy , R Grace Zhai , Stephan Zuchner

Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives.

Nucleic acid therapeutics

Avec: Matthis Synofzik , Willeke M C van Roon-Mom , Georg Marckmann , Hermine A van Duyvenvoorde , Holm Graessner , Rebecca Schüle , Annemieke Aartsma-Rus

A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia.

Brain : a journal of neurology

Avec: Emma L van der Ende , Esther E Bron , Jackie M Poos , Lize C Jiskoot , Jessica L Panman , Janne M Papma , Lieke H Meeter , Elise G P Dopper , Carlo Wilke , Matthis Synofzik , Carolin Heller , Imogen J Swift , Aitana Sogorb-Esteve , Arabella Bouzigues , Barbara Borroni , Raquel Sanchez-Valle , Fermin Moreno , Caroline Graff , Robert Laforce , Daniela Galimberti , Mario Masellis , Maria Carmela Tartaglia , Elizabeth Finger , Rik Vandenberghe , James B Rowe , Alexandre de Mendonça , Fabrizio Tagliavini , Isabel Santana , Simon Ducharme , Christopher R Butler , Alexander Gerhard , Johannes Levin , Adrian Danek , Markus Otto , Yolande A L Pijnenburg , Sandro Sorbi , Henrik Zetterberg , Wiro J Niessen , Jonathan D Rohrer , Stefan Klein , John C van Swieten , Vikram Venkatraghavan , Harro Seelaar , Auteur inconnu

Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity.

Movement disorders : official journal of the Movement Disorder Society

Avec: Holger Hengel , Peter Martus , Jennifer Faber , Hector Garcia-Moreno , Nita Solanky , Paola Giunti , Thomas Klockgether , Kathrin Reetz , Bart P van de Warrenburg , Luís 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-Schmid , Matthis Synofzik , Ludger Schöls

A panel of CSF proteins separates genetic frontotemporal dementia from presymptomatic mutation carriers: a GENFI study.

Molecular neurodegeneration

Avec: Sofia Bergström , Linn Öijerstedt , Julia Remnestål , Jennie Olofsson , Abbe Ullgren , Harro Seelaar , John C van Swieten , Matthis Synofzik , Raquel Sanchez-Valle , Fermin Moreno , Elizabeth Finger , Mario Masellis , Carmela Tartaglia , Rik Vandenberghe , Robert Laforce , Daniela Galimberti , Barbara Borroni , Chris R Butler , Alexander Gerhard , Simon Ducharme , Jonathan D Rohrer , Anna Månberg , Caroline Graff , Peter Nilsson , Auteur inconnu

Conceptual framework for the definition of preclinical and prodromal frontotemporal dementia.

Alzheimer's & dementia : the journal of the Alzheimer's Association

Avec: Alberto Benussi , Antonella Alberici , Kiran Samra , Lucy L Russell , Caroline V Greaves , Martina Bocchetta , Simon Ducharme , Elizabeth Finger , Giorgio Fumagalli , Daniela Galimberti , Lize C Jiskoot , Isabelle Le Ber , Mario Masellis , Benedetta Nacmias , James B Rowe , Raquel Sanchez-Valle , Harro Seelaar , Matthis Synofzik , Auteur inconnu , Jonathan D Rohrer , Barbara Borroni

Invasive Brain Stimulation in the Treatment of Psychiatric Illness–Proposed Indications and Approaches.

Deutsches Arzteblatt international

Avec: Thomas E Schläpfer , Andreas Meyer-Lindenberg , Matthis Synofzik , Veerle Visser-Vandewalle , Jürgen Voges , Volker A Coenen

Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.

Brain : a journal of neurology

Avec: 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 van de Warrenburg , Claire Guissart , Michel Koenig , Jack Howell , Carlos T Moraes , Annette Schenck , Giovanni Stevanin , Stephan Züchner , Matthis Synofzik , Auteur inconnu

A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype.

Journal of neurology

Avec: David Mengel , Andreas Traschütz , Selina Reich , Alejandra Leyva-Gutiérrez , Friedemann Bender , Stefan Hauser , Tobias B Haack , Matthis Synofzik

Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia.

Brain communications

Avec: Andre Altmann , David M Cash , Martina Bocchetta , Carolin Heller , Regina Reynolds , Katrina Moore , Rhian S Convery , David L Thomas , John C van Swieten , Fermin Moreno , Raquel Sanchez-Valle , Barbara Borroni , Robert Laforce , Mario Masellis , Maria Carmela Tartaglia , Caroline Graff , Daniela Galimberti , James B Rowe , Elizabeth Finger , Matthis Synofzik , Rik Vandenberghe , Alexandre de Mendonça , Fabrizio Tagliavini , Isabel Santana , Simon Ducharme , Chris R Butler , Alex Gerhard , Johannes Levin , Adrian Danek , Giovanni Frisoni , Roberta Ghidoni , Sandro Sorbi , Markus Otto , Mina Ryten , Jonathan D Rohrer , Auteur inconnu

Are intrinsic neural timescales related to sensory processing? Evidence from abnormal behavioral states.

NeuroImage

Avec: Federico Zilio , Javier Gomez-Pilar , Shumei Cao , Jun Zhang , Di Zang , Zengxin Qi , Jiaxing Tan , Tanigawa Hiromi , Xuehai Wu , Stuart Fogel , Zirui Huang , Matthias R Hohmann , Tatiana Fomina , Matthis Synofzik , Moritz Grosse-Wentrup , Adrian M Owen , Georg Northoff

Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Frontiers in genetics

Avec: Parham Habibzadeh , Zahra Tabatabaei , Soroor Inaloo , Muhammad Mahdi Nashatizadeh , Matthis Synofzik , Vahid Reza Ostovan , Mohammad Ali Faghihi

Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder.

Annals of clinical and translational neurology

Avec: Tanja Schmitz-Hübsch , Silke Lux , Peter Bauer , Alexander U Brandt , Elena Schlapakow , Susanne Greschus , Michael Scheel , Hanna Gärtner , Mehmet E Kirlangic , Vincent Gras , Dagmar Timmann , Matthis Synofzik , Alejandro Giorgetti , Paolo Carloni , Jon N Shah , Ludger Schöls , Ute Kopp , Lisa Bußenius , Timm Oberwahrenbrock , Hanna Zimmermann , Caspar Pfueller , Ella-Maria Kadas , Maria Rönnefarth , Anne-Sophie Grosch , Matthias Endres , Katrin Amunts , Friedemann Paul , Sarah Doss , Martina Minnerop

Data-driven staging of genetic frontotemporal dementia using multi-modal MRI.

Human brain mapping

Avec: Jillian McCarthy , 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 , Rik Vandenberghe , Alexandre de Mendonça , Fabrizio Tagliavini , Isabel Santana , Chris Butler , Alex Gerhard , Adrian Danek , Johannes Levin , Markus Otto , Giovanni Frisoni , Roberta Ghidoni , Sandro Sorbi , Lize C Jiskoot , Harro Seelaar , John C van Swieten , Jonathan D Rohrer , Yasser Iturria-Medina , Simon Ducharme , Auteur inconnu

Réseau de co-auteurs

Matthis Synofzik 98 collaborations

None None 50 collaborations

Markus Otto 35 collaborations

Caroline Graff 34 collaborations

Daniela Galimberti 34 collaborations

Barbara Borroni 33 collaborations

Jonathan D Rohrer 33 collaborations

Mario Masellis 32 collaborations

Elizabeth Finger 32 collaborations

Simon Ducharme 32 collaborations

Robert Laforce 31 collaborations

James B Rowe 31 collaborations

Rik Vandenberghe 31 collaborations

Isabel Santana 31 collaborations

Raquel Sanchez-Valle 31 collaborations

Fermin Moreno 30 collaborations

Johannes Levin 29 collaborations

Ludger Schöls 28 collaborations

John C van Swieten 26 collaborations

Alexandre de Mendonça 26 collaborations

Harro Seelaar 25 collaborations

Sandro Sorbi 25 collaborations

Martina Bocchetta 24 collaborations

Maria Carmela Tartaglia 23 collaborations

Adrian Danek 22 collaborations

Fabrizio Tagliavini 19 collaborations

Lucy L Russell 18 collaborations

Lize C Jiskoot 18 collaborations

Rhian S Convery 17 collaborations

Alexander Gerhard 17 collaborations

Chris R Butler 17 collaborations

Florence Pasquier 16 collaborations

David M Cash 15 collaborations

Dagmar Timmann 15 collaborations

Isabelle Le Ber 15 collaborations

Alex Gerhard 13 collaborations

Thomas Klockgether 13 collaborations

Georgia Peakman 13 collaborations

Arabella Bouzigues 13 collaborations

Caroline V Greaves 12 collaborations

Rebecca Schüle 12 collaborations

Andreas Traschütz 10 collaborations

Jennifer Faber 10 collaborations

Carlo Wilke 9 collaborations

Heike Jacobi 9 collaborations

Kathrin Reetz 9 collaborations

Carmela Tartaglia 9 collaborations

Pietro Tiraboschi 9 collaborations

Chris Butler 9 collaborations

Carolin Heller 9 collaborations

Holger Hengel 8 collaborations

Lize Jiskoot 8 collaborations

Tobias B Haack 8 collaborations

Jon Infante 7 collaborations

Bart P van de Warrenburg 7 collaborations

Henrik Zetterberg 7 collaborations

Henry Houlden 7 collaborations

Jeannette Hübener-Schmid 6 collaborations

Magda M Santana 6 collaborations

Hector Garcia-Moreno 6 collaborations

Manuela Lima 6 collaborations

Olaf Riess 6 collaborations

David Mengel 6 collaborations

Emily Todd 6 collaborations

Andreas Thieme 6 collaborations

Bernard Brais 6 collaborations

Jeroen de Vries 5 collaborations

Paola Giunti 5 collaborations

Jackie M Poos 5 collaborations

Yolande A L Pijnenburg 5 collaborations

Emily G Todd 5 collaborations

Roberta Ghidoni 5 collaborations

Giovanni Frisoni 5 collaborations

Aitana Sogorb-Esteve 5 collaborations

Matt C Danzi 5 collaborations

Thomas Klopstock 5 collaborations

Selina Reich 5 collaborations

Katrina M Moore 4 collaborations

Janine Diehl-Schmid 4 collaborations

Tobias Lindig 4 collaborations

Benjamin Bender 4 collaborations

Bart van de Warrenburg 4 collaborations

Janne M Papma 4 collaborations

David L Thomas 4 collaborations

Emma L van der Ende 4 collaborations

Alexandra Durr 4 collaborations

Alessandro Filla 4 collaborations

Enrico Premi 4 collaborations

Stefano Gazzina 4 collaborations

Alberto Benussi 4 collaborations

Roberto Gasparotti 4 collaborations

Luís Pereira de Almeida 4 collaborations

Jeremy D Schmahmann 4 collaborations

Imogen J Swift 4 collaborations

Kiran Samra 4 collaborations

Stephan Zuchner 4 collaborations

Mathieu Anheim 4 collaborations

Friedemann Bender 4 collaborations

John van Swieten 4 collaborations

Stephan Züchner 4 collaborations

Klaus Fliessbach 3 collaborations

Anja Schneider 3 collaborations

Jens Wiltfang 3 collaborations

Matthias L Schroeter 3 collaborations

Linn Öijerstedt 3 collaborations

Judith van Gaalen 3 collaborations

Michael Strupp 3 collaborations

Silvana Archetti 3 collaborations

Antonella Alberici 3 collaborations

Martin Giese 3 collaborations

Winfried Ilg 3 collaborations

Marcus Grobe-Einsler 3 collaborations

Patrick Silva 3 collaborations

Imis Dogan 3 collaborations

Peter Martus 3 collaborations

Khalaf Bushara 3 collaborations

Chiadi Onyike 3 collaborations

Amy M MacDougall 3 collaborations

David Pellerin 3 collaborations

Mathilde Renaud 3 collaborations

Martina Minnerop 3 collaborations

Filippo M Santorelli 3 collaborations

Stefan Vielhaber 3 collaborations

Joohyun Park 3 collaborations

Adriana P Rebelo 3 collaborations

Andrea Cortese 3 collaborations

María-Jesús Sobrido 3 collaborations

Christopher R Butler 3 collaborations

Marc Sturm 3 collaborations

Maren Rautenberg 3 collaborations

Raquel Sánchez-Valle 2 collaborations

Alexandre de Mendonca 2 collaborations

Christopher Butler 2 collaborations

Jason D Warren 2 collaborations

Franziska Albrecht 2 collaborations

Karsten Mueller 2 collaborations

Jan Kassubek 2 collaborations

Martin Lauer 2 collaborations

Klaus Fassbender 2 collaborations

Johannes Kornhuber 2 collaborations

Christian Deuschle 2 collaborations

Walter Maetzler 2 collaborations

Bettina Brendel 2 collaborations

Jennifer Just 2 collaborations

Matt Baker 2 collaborations

Manuela Neumann 2 collaborations

Johannes Prudlo 2 collaborations

Ronald C Petersen 2 collaborations

Ekaterina Rogaeva 2 collaborations

Neill R Graff-Radford 2 collaborations

Dennis W Dickson 2 collaborations

Rosa Rademakers 2 collaborations

Clemens Becker 2 collaborations

Mafalda Raposo 2 collaborations

Luis Pereira de Almeida 2 collaborations

Jennifer Nicholas 2 collaborations

Esther van den Berg 2 collaborations

Juan Eugenio Iglesias 2 collaborations

Jennifer M Nicholas 2 collaborations

Mahsa Dadar 2 collaborations

Ana L Manera 2 collaborations

D Louis Collins 2 collaborations

Maria Rakowicz 2 collaborations

Bela Melegh 2 collaborations

Jens Seemann 2 collaborations

Tamara Schaprian 2 collaborations

James M Joers 2 collaborations

Matthias Schmid 2 collaborations

Nita Solanky 2 collaborations

Paula Pires 2 collaborations

Jessica L Panman 2 collaborations

Lieke H Meeter 2 collaborations

Elise G P Dopper 2 collaborations

David Cash 2 collaborations

David Thomas 2 collaborations

Stefan Hauser 2 collaborations

Marie-Josée Dicaire 2 collaborations

Céline Bonnet 2 collaborations

Catherine Ashton 2 collaborations

Phillipa J Lamont 2 collaborations

Astrid D Adarmes-Gómez 2 collaborations

Jonathan Baets 2 collaborations

Cynthia Gagnon 2 collaborations

Sarah Doss 2 collaborations

Christoph Kamm 2 collaborations

Ginevra Zanni 2 collaborations

Ralf-Dieter Hilgers 2 collaborations

Federico Zilio 2 collaborations

Javier Gomez-Pilar 2 collaborations

Stuart Fogel 2 collaborations

Tatiana Fomina 2 collaborations

Shumei Cao 2 collaborations

Jun Zhang 2 collaborations

Zirui Huang 2 collaborations

Georg Northoff 2 collaborations

Petra Steinacker 2 collaborations

Susan Perlman 2 collaborations

Jens Kuhle 2 collaborations

Christian Barro 2 collaborations

Claudia Stendel 2 collaborations

Rhian Convery 2 collaborations

Amanda Heslegrave 2 collaborations

Zofia Fleszar 2 collaborations

Elena Buglo 2 collaborations

Steve Courel 2 collaborations

Lisa Abreu 2 collaborations

Eric Powell 2 collaborations

Dana M Bis-Brewer 2 collaborations

Parham Habibzadeh 2 collaborations

Zahra Tabatabaei 2 collaborations

Christoph Kessler 2 collaborations

Mohammad Ali Faghihi 2 collaborations

John Cornelis Van Swieten 2 collaborations

Jonathan Daniel Rohrer 2 collaborations

Amanda J Heslegrave 2 collaborations

Katrina Moore 2 collaborations

Annette M Hartmann 2 collaborations

Dan Rujescu 2 collaborations

A Nazli Basak 2 collaborations

Fermín Moreno 2 collaborations

Claire Guissart 2 collaborations

Mina Ryten 2 collaborations

Michel Koenig 2 collaborations

Giulia Coarelli 2 collaborations

Katrin Klein 2 collaborations

Atay Vural 2 collaborations

Stephan Klebe 2 collaborations

Tim W Rattay 2 collaborations

Katja Lohmann 2 collaborations

Giovanni Stevanin 2 collaborations

Rita Horvath 2 collaborations

Claudia Dufke 2 collaborations

Sylvia Boesch 2 collaborations

Isabel G Wellik 2 collaborations

Kristen H Schuster 2 collaborations

Sabrina I Jarrah 2 collaborations

Madeleine Wacker 2 collaborations

Naila S Ashraf 2 collaborations

Gülin Öz 2 collaborations

Maria do Carmo Costa 2 collaborations

Hayley S McLoughlin 2 collaborations

Valentina Cantoni 2 collaborations

Abbe Ullgren 2 collaborations

Jennie Olofsson 2 collaborations

Sofia Bergström 2 collaborations

Julia Remnestål 2 collaborations

Anna Månberg 2 collaborations

Peter Nilsson 2 collaborations

Phoebe H Foster 2 collaborations

Eve Ferry-Bolder 2 collaborations

Peter Bauer 2 collaborations

Stefania Magri 2 collaborations

Davide Pareyson 2 collaborations

Franco Taroni 2 collaborations

Holm Graessner 2 collaborations

John Van Swieten 1 collaboration

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Robert Jech 1 collaboration

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Anne Stuendl 1 collaboration

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Michael Hüll 1 collaboration

Wolfgang Maier 1 collaboration

Oliver Peters 1 collaboration

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Brit Mollenhauer 1 collaboration

Andre Fischer 1 collaboration

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Wolfgang Grodd 1 collaboration

Uwe Klose 1 collaboration

Klaus Scheffler 1 collaboration

Ulrike Ernemann 1 collaboration

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Yingxue Ren 1 collaboration

Ralph B Perkerson 1 collaboration

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Mariely DeJesus-Hernandez 1 collaboration

Jeroen G J van Rooij 1 collaboration

Melissa E Murray 1 collaboration

Elizabeth Christopher 1 collaboration

Shannon K McDonnell 1 collaboration

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Anthony Batzler 1 collaboration

Shulan Tian 1 collaboration

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Billie Matchett 1 collaboration

Anna M Karydas 1 collaboration

Ging-Yuek Robin Hsiung 1 collaboration

Merel O Mol 1 collaboration

Elizabeth C Finger 1 collaboration

Peter Heutink 1 collaboration

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Richard J Caselli 1 collaboration

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Martin R Farlow 1 collaboration

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David J Irwin 1 collaboration

Edward B Lee 1 collaboration

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Ryan J Uitti 1 collaboration

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Keith A Josephs 1 collaboration

Joseph E Parisi 1 collaboration

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Glenda M Halliday 1 collaboration

John B Kwok 1 collaboration

Charles L White 1 collaboration

Marla Gearing 1 collaboration

Jonathan Glass 1 collaboration

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Tony Phan 1 collaboration

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Daniel O Claassen 1 collaboration

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Maria M Pinto 1 collaboration

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David McFall 1 collaboration

Eric Huang 1 collaboration

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Alexander Münchau 1 collaboration

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Marcella Masciullo 1 collaboration

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Elisa Floride 1 collaboration

Shi Yuqing 1 collaboration

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Peter Freisinger 1 collaboration

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Marni J Falk 1 collaboration

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Fang Fang 1 collaboration

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Martha Foiani 1 collaboration

Rachelle Shafei 1 collaboration

Caroline Greaves 1 collaboration

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