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M

Matthis Synofzik

Hertie Institute for Clinical Brain Research
H指数:77
被引数:2.2万

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A deep learning framework for automated cervical spinal cord vertebral labeling and morphometric extraction from brain MRI with large-scale multicenter validation

基于大规模多中心验证的用于自动化的颈脊髓椎体标记和形态测量提取的深度学习框架

npj Digital Medicine
IF15.1
2026-10-230
OAAI
Gustavo M. Jarola; Diogo H. Shiraishi; Isaac M. Adanyeguh; Tetsuo Ashizawa; Orlando Graziani Povoas Barsottini; Benjamin Bender; Fernando Cendes; Louise A. Corben; Manuela Corti; Léo Coutinho; Emile d’Angremont; Alfredo Damasceno; Martin B. Delatycki; Imis Dogan; Alexandra Durr; Gary F. Egan; Jennifer Faber; Juan Fernandez-Ruiz; Judith van Gaalen; William Gaetz; Nellie Georgiou-Karistianis; Eva van Heese; Pierre-Gilles Henry; Carlos R. Hernandez-Castillo; Diane Hutter; James M. Joers; Thomas Klockgether; Max Laansma; Christophe Lenglet; Jiakun Li; Eric F. Lock; Raffaele Lodi; David R. Lynch; David N. Manners; Alberto RM Martinez; Sergio Eiji Ono; Gülin Öz; Massimo Pandolfo; José Luiz Pedroso; Myriam Rai; Kathrin Reetz; Timothy P. Roberts; Sandro Romanzetti; David A. Rudko; Susmita Saha; Ludger Schoels; Sub H. Subramony; Zhuopin Sun; Matthis Synofzik; Hélio A. Ghizoni Teive; Gabriel de Deus Vieira; Bart van de Warrenburg; Ysbrand van der Werf; Marcondes C. França; Ian H. Harding; Thiago J. R. Rezende
Single-nucleotide polymorphism–directed design of allele-specific antisense oligonucleotides for spinocerebellar ataxia type 3

单核苷酸多态性指导下的脊髓小脑共济失调3型等位基因特异性反义寡核苷酸设计

Science Translational Medicine
IF14.6
2026-10-210
PRE
Jacob Helm; Elena Buena-Atienza; Clemens M. Sauter; Linus Wiora; Melanie Kraft; Yvonne Schelling; Jakob Admard; Jeannette Hübener-Schmid; Thomas Klockgether; Matthis Synofzik; Luís Pereira de Almeida; Mafalda Raposo; Paola Giunti; Hector Garcia-Moreno; Magda M. Santana; Jennifer Faber; Holger Hengel; Nicolas Casadei; Ludger Schöls; Stefan Hauser
Data-driven mapping of known and novel fluid biomarker progression profiles in genetic frontotemporal lobar degeneration

基于数据的已知和新型流体生物标志物在遗传性额颞叶痴呆中的进展图谱构建

Alzheimers Research & Therapy
IF7.6
2026-08-110
OA
Julie F. H. De Houwer; Wenjie Kang; Renee van Buuren; Liset de Boer; Tine Swartenbroekx; Ana Rajicic; Arabella Bouzigues; Lucy L. Russell; Phoebe H. Foster; Eve Ferry-Bolder; John C. van Swieten; Lize C. Jiskoot; Raquel Sanchez-Valle; Robert Laforce; Caroline Graff; Daniela Galimberti; Rik Vandenberghe; Alexandre de Mendonça; Pietro Tiraboschi; Isabel Santana; Alexander Gerhard; Johannes Levin; Benedetta Nacmias; Markus Otto; Maxime Bertoux; Thibaud Lebouvier; Simon Ducharme; Chris R. Butler; Isabelle Le Ber; Elizabeth Finger; Maria Carmela Tartaglia; Mario Masellis; James B. Rowe; Matthis Synofzik; Fermin Moreno; Barbara Borroni; Henrik Zetterberg; Yolande A. L. Pijnenburg; Charlotte Teunissen; Jonathan D. Rohrer; Stefan Klein; Elise G. Dopper; Esther E. Bron; Harro Seelaar
Longitudinal progression, metrics, age-dependence, and modifiers of ataxia severity in SCA27B: a multicentre study of 219 patients

SCA27B型共济失调的纵向进展、指标、年龄依赖性及严重程度修饰因子：一项219例患者的多中心研究

EBioMedicine
IF10.8
2026-08-010
PRE
Traschutz, Andreas; Hilgers, Ralf-Dieter; Erdlenbruch, Friedrich; Depienne, Christel; Wirth, Thomas; Delvallee, Clarisse; Numann, Astrid; Ashton, Catherine; Pellerin, David; Indelicato, Elisabetta; Heindl, Felix; Renaud, Mathilde; Borsche, Max; Grobe-Einsler, Marcus; Faber, Jennifer; Klockgether, Thomas; Schols, Ludger; Brais, Bernard; Anheim, Mathieu; Timmann, Dagmar; Synofzik, Matthis
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia

CAPN1激活因子CD99L2的功能缺失变异导致X连锁痉挛性共济失调

Nature Communications
IF15.7
2026-02-140
OAAI
Benita Menden; Rana D. Incebacak Eltemur; German Demidov; Marc Sturm; Joohyun Park; Chrisovalantou Huridou; Florian Fath; Astrid Nümann; Alexander Baumann; Illja J. Diets; Claudia Dufke; Martin Regensburger; Maria Rönnefarth; Vera Wilke; Nienke van Os; Stefan Vielhaber; Tim W. Rattay; Zacharias Kohl; Susana Peralta; Priscila Pereira Sena; Melanie Kellner; Nadine Weissert; Andreas Traschütz; Lena Zeltner; Kai Boelmans; Natalie Deininger; Leon Schütz; Caspar Gross; Ana Beatriz Hinojosa Amaya; Katrin Raupach; Holger Hengel; Florian Harmuth; Jakob Admard; Ingrid Bader; Sarah Baumann; Friedemann Bender; Andrea Bevot; Almut Bischoff; Felix Boschann; Rebecca Buchert; Daniel Buchzik; Nicolas Casadei; Claudia B. Catarino; Isabell Cordts; Kirsten Cremer; Marion Doebler-Neumann; Nadja Ehmke; Miriam Elbracht; Ruth J. Falb; Thomas Feindt; Zofia Fleszar; Lea Gerstner; Dieter Gläser; Ute Grasshoff; Sarah Grosch; Kathrin Grundmann; Alexander Gutschalk; Manja Haaga; Stefanie Hayer; Ute Hehr; Yorck Hellenbroich; Wolfram Henn; Barbara Herr; Rebecca Herzog; Veronka Horber; Jonas Deppe; Nadja Kaiser; Christiane Kehrer; Martin Kehrer; Jan Kern; Christoph Keßler; Katharina Khuller; Hannah Klinkhammer; Urania Kotzaeridou; Peter Krawitz; Martina Kreiss; Hanna Küpper; Alice Kuster; Lucia Laugwitz; Anne Lesemann; Nadine Lichey; Tobias Linden; Boris Macek; Janine Magg; Elisabeth Mangold; Eva Manka; Iris Marquardt; Karl Mehnert; David Mengel; Susanne Morlot; Barbara Oehl-Jaschkowitz; Martje G. Pauly; Melanie Philipp; Florentine Radelfahr; Maren Rautenberg; Angelika Riess; Carsten Saft; Beate Schlotter-Weigel; Axel Schmidt; Eva M. C. Schwaibold; Veronika Spahlinger; Stephanie Spranger; Katharina Marie Steiner; Claudia Stendel; Andreas Thieme; Andreas Tzschach; Ana Velic; Sarah Wiethoff; Carlo Wilke; Stephan Züchner; Simone Zittel; Ralf A. Husain; Marcus Deschauer; Felix Distelmaier; Andreas Dufke; Holm Graessner; Bernhard Hemmer; Heike Jacobi; Thomas Klockgether; Thomas Klopstock; Xenia Kobeleva; Georg-Christoph Korenke; Alma Kuechler; Gregor Kuhlenbäumer; Ingo Kurth; Huu Phuc Nguyen; Gilbert Wunderlich; Kirsten E. Zeuner; Stephan Klebe; Michaela Auer-Grumbach; Michaela Butryn; Jürgen Winkler; Dagmar Timmann; Matthis Synofzik; Bart van de Warrenburg; Rebecca Schüle; Ludger Schöls; Stephan Ossowski; Olaf Riess; Jonasz J. Weber; Tobias B. Haack
The Cerebellar Cognitive-Affective Syndrome Scale Reveals Consistent, Early, and Progressive Neuropsychological Deficits in Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Large International Cross-Sectional Study

小脑认知-情感综合征量表揭示了常染色体隐性遗传的夏尔波瓦-萨甘脊髓小脑共济失调中一致、早期和进行性的神经心理学缺陷：一项大型国际横断面研究

Movement Disorders
IF7.6
2026-02-110
OAAI
Julie Fortin PhD; Matthis Synofzik MD; Élyse-Anne Pedneault-Tremblay OT; Dominik Hermle; Andreas Thieme MD; Dagmar Timmann MD; Roberta La Piana MD, PhD; Bernard Brais MD, PhD; Justine Dolbec MS; Isabelle Côté MS; Cynthia Gagnon OT, PhD; Andreas Traschütz MD, PhD
Individualized Atrophy-Based Prediction of Dementia Progression in Familial Frontotemporal Lobar Degeneration With Bayesian Linear Mixed-Effects Modeling
Annals of Neurology
IF7.7
2026-01-290
OAAI
Shubir Dutt PhD; Dana Leichter BS; Yann Cobigo PhD; Amy Wolf BS; John Kornak PhD; Annie Clark MS; Lucy L. Russell PhD; Arabella Bouzigues MSc; David M. Cash PhD; Martina Bocchetta PhD; Molly Olzinski BS; Brian Appleby MD; Ece Bayram MD, PhD; Barbara Borroni MD; Andrea Bozoki MD; Chris R. Butler PhD; David Clark MD; Rhian S. Convery MSc; R. Ryan Darby MD; Alexandre de Mendonça PhD; Bradford Dickerson MD; Kimiko Domoto-Reilly MD; Simon Ducharme MD; Eve Ferry-Bolder BA; Elizabeth Finger MD; Phoebe H. Foster BSc; Douglas R. Galasko MD; Daniela Galimberti PhD; Alexander Gerhard MD; Nupur Ghoshal MD; Caroline Graff PhD; Neill Graff-Radford MD; Ian M. Grant MD; Chadwick M. Hales MD, PhD; Lawrence S. Honig MD, PhD; Ging-Yuek Hsiung MD; Edward D. Huey MD; David Irwin MD; Lize C. Jiskoot PhD; Walter Kremers PhD; Justin Y. Kwan MD; Robert Laforce MD; Isabelle Le Ber PhD; Gabriel C. Léger MD; Johannes Levin MD; Irene Litvan MD, MSc; Ian R. Mackenzie MD; Mario Masellis PhD; Mario F. Mendez MD, PhD; Fermin Moreno PhD; Chiadi Onyike MD, MHS; Markus Otto MD; Belen Pascual PhD; Peter Pressman MD; Rosa Rademakers PhD; Eliana Marisa Ramos PhD; Aaron Ritter MD; Erik D. Roberson MD, PhD; James B. Rowe PhD; Raquel Sanchez-Valle MD; Isabel Santana PhD; Harro Seelaar PhD; Allison Snyder MD; Sandro Sorbi PhD; Matthis Synofzik MD; Maria Carmela Tartaglia MD; Pietro Tiraboschi MD; John C. van Swieten MD, PhD; Marijne Vandebergh PhD; Rik Vandenberghe MD; Hilary W. Heuer PhD; Bruce L. Miller MD; William W. Seeley MD; Maria Luisa Gorno-Tempini MD; Joel H. Kramer PsyD; Leah Forsberg PhD; Kejal Kantarci MD; Bradley F. Boeve MD; Adam L. Boxer MD, PhD; Jonathan D. Rohrer PhD; Howard J. Rosen MD; Adam M. Staffaroni PhD; FTD Prevention Initiative (FPI) investigators
Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

多中心及时间点远程评估SCA3共济失调严重程度

Annals of Clinical and Translational Neurology
IF3.9
2026-01-220
OA
Marcus Grobe-Einsler; Vivian Maas; Arian Taheri Amin; Jennifer Faber; Tamara Schaprian; Katharina Hill; Matthis Synofzik; Lisa H. Graf; Heike Jacobi; Manuela Lima; Ana F. Ferreira; Bart P. van de Warrenburg; Ilse H. J. Willemse; Dagmar Timmann; Andreas Thieme; Paola Giunti; Hector Garcia-Moreno; Magda M. Santana; Jeannette Hübener-Schmid; Elin H. Davies; Thomas Klockgether
The RAB3A hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrum
Brain
IF11.7
2026-01-020
PRE
Johanna R Roller; Ashraf Yahia; Giovanni Stevanin; Ammar E Ahmed; Amna M T Alawadhi; Mohammed Almannai; Maryam Y Busehail; Alexander H Choi; Ali A Elhassan; Liena E O Elsayed; Christina Goode; Lauren H Hammer; Christina Laukaitis; Amber Begtrup; Rachel A Paul; Jasmin Roohi; Hoda Y Tomoum; Peter Bauer; Ludger Schöls; Jorge P Basto; Matthis Synofzik; Holger Hengel
CSF biomarkers of neuroinflammation are associated with regional atrophy

脑脊液神经炎症生物标志物与区域性萎缩相关

Journal of Neurology
IF4.6
2025-12-240
OAAI
Serap Özlü; Martin Dyrba; Alice Grazia; Frederic Brosseron; Katharina Buerger; Peter Dechent; Emrah Düzel; Michael Ewers; Klaus Fliessbach; Wenzel Glanz; Niels Hansen; Julian Hellmann-Regen; Stefan Hetzer; Daniel Janowitz; Ingo Kilimann; Marie Kronmüller; Christoph Laske; Falk Lüsebrink; David Mengel; Robert Perneczky; Oliver Peters; Josef Priller; Alfredo Ramirez; Boris-Stephan Rauchmann; Ayda Rostamzadeh; Anja Schneider; Sebastian Sodenkamp; Annika Spottke; Eike Jakob Spruth; Matthis Synofzik; Jens Wiltfang; Michael T Heneka; Frank Jessen; Stefan Teipel
Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment

脊髓小脑共济失调3型的脑萎缩分期：用于临床预后和试验富集

eBioMedicine
IF10.8
2025-12-230
OAAI
Hannah Baumeister; Philipp Wegner; Mónica Ferreira; Tamara Schaprian; Marcondes C. França; Thiago Junqueira Ribeiro Rezende; Alberto Rolim Muro Martinez; Hong Jiang; Zhao Chen; Liao Weihua; Marcus Grobe-Einsler; Berkan Koyak; Demet Önder; Bart van de Warrenburg; Judith van Gaalen; Alexandra Durr; Giulia Coarelli; Matthis Synofzik; Ludger Schöls; Paola Giunti
Distinct proteomic CSF profiles in genetic frontotemporal lobar degeneration

遗传性额颞叶萎缩的不同蛋白组学脑脊液特征

Brain
IF11.7
2025-12-040
OAAI
Julie F H De Houwer; Elise G Dopper; Renee van Buuren; Marijke Stokkel; Liset de Boer; Tine Swartenbroekx; Pam A Boesjes; Ana Rajicic; Aitana Sogorb-Esteve; Arabella Bouzigues; Lucy L Russell; Phoebe H Foster; Eve Ferry-Bolder; John C van Swieten; Lize C Jiskoot; Raquel Sanchez-Valle; Robert Laforce; Caroline Graff; Daniela Galimberti; Rik Vandenberghe; Alexandre de Mendonça; Pietro Tiraboschi; Isabel Santana; Alexander Gerhard; Johannes Levin; Benedetta Nacmias; Markus Otto; Maxime Bertoux; Thibaud Lebouvier; Simon Ducharme; Chris R Butler; Isabelle Le Ber; Elizabeth Finger; Maria Carmela Tartaglia; Mario Masellis; James B Rowe; Matthis Synofzik; Fermin Moreno; Barbara Borroni; Henrik Zetterberg; Jonathan D Rohrer; Betty M Tijms; Yolande A L Pijnenburg; Charlotte Teunissen; Harro Seelaar; GENFI Consortium Members; null
A new FTLD-TDP subtype with annexin A11 co-pathology

一种伴有 Annexin A11 共病理学改变的 FTLD-TDP 新亚型

Acta Neuropathologica
IF9.3
2025-11-280
PRE
Manuela Neumann; Marleen Van den Broeck; Sarah Wynants; Simon Cheung; Johannes Prudlo; Andreas Hermann; Matthis Synofzik; Hannah Briemberg; Ging-Yuek R. Hsiung; Rosa Rademakers; Ian R. A. Mackenzie
Cellular signatures underlying functional resilience in presymptomatic frontotemporal dementia

前驱症状额颞叶痴呆功能性恢复力的细胞特征

Brain
IF11.7
2025-11-240
OAAI
Kamen A Tsvetanov; Maura Malpetti; P Simon Jones; Timothy Rittman; David J Whiteside; Alexander G Murley; Richard Bethlehem; Casey Paquola; Enrico Premi; Arabella Bouzigues; Lucy L Russell; Phoebe H Foster; Eve Ferry-Bolder; John C van Swieten; Lize C Jiskoot; Harro Seelaar; Raquel Sanchez-Valle; Robert Laforce; Caroline Graff; Daniela Galimberti; Rik Vandenberghe; Alexandre de Mendonça; Pietro Tiraboschi; Isabel Santana; Alexander Gerhard; Johannes Levin; Sandro Sorbi; Markus Otto; Maxime Bertoux; Thibaud Lebouvier; Simon Ducharme; Chris R Butler; Isabelle Le Ber; Elizabeth Finger; Maria Carmela Tartaglia; Mario Masellis; Matthis Synofzik; Fermin Moreno; Barbara Borroni; Jonathan D Rohrer; James B Rowe; the Genetic FTD Initiative, GENFI
Neurodevelopmental effects of genetic frontotemporal dementia mutations revealed by total intracranial volume differences

遗传性额颞叶痴呆突变通过全颅内体积差异揭示的神经发育效应

Journal of Alzheimer’s Disease
IF0
2025-11-190
OA
Isis So; Arabella Bouzigues; Lucy L Russell; Phoebe H Foster; Eve Ferry-Bolder; John C van Swieten; Lize C Jiskoot; Harro Seelaar; Raquel Sanchez-Valle; Robert Laforce; Caroline Graff; Daniela Galimberti; Rik Vandenberghe; Alexandre de Mendonça; Pietro Tiraboschi; Isabel Santana; Alexander Gerhard; Johannes Levin; Sandro Sorbi; Markus Otto; Florence Pasquier; Simon Ducharme; Chris R Butler; Isabelle Le Ber; Maria Carmela Tartaglia; Mario Masellis; James B Rowe; Matthis Synofzik; Fermin Moreno; Barbara Borroni; Tyler Kolander; Carly Mester; Danielle Brushaber; Kejal Kantarci; Hilary W Heuer; Leah K Forsberg; Jonathan D Rohrer; Bradley F Boeve; Adam L Boxer; Howard J Rosen; Elizabeth C Finger
An unsupervised XAI framework for dementia detection with context enrichment

一种用于痴呆症检测的、带有上下文增强的半监督可解释人工智能框架

Scientific Reports
IF3.9
2025-11-120
OAAI
Devesh Singh; Yusuf Brima; Fedor Levin; Martin Becker; Bjarne Hiller; Andreas Hermann; Irene Villar-Munoz; Lukas Beichert; Alexander Bernhardt; Katharina Buerger; Michaela Butryn; Peter Dechent; Emrah Düzel; Michael Ewers; Klaus Fliessbach; Silka D. Freiesleben; Wenzel Glanz; Stefan Hetzer; Daniel Janowitz; Doreen Görß; Ingo Kilimann; Okka Kimmich; Christoph Laske; Johannes Levin; Andrea Lohse; Falk Luesebrink; Matthias Munk; Robert Perneczky; Oliver Peters; Lukas Preis; Josef Priller; Johannes Prudlo; Diana Prychynenko; Boris S. Rauchmann; Ayda Rostamzadeh; Nina Roy-Kluth; Klaus Scheffler; Anja Schneider; Louise Droste zu Senden; Björn H. Schott; Annika Spottke; Matthis Synofzik; Jens Wiltfang; Frank Jessen; Marc-André Weber; Stefan J. Teipel; Martin Dyrba
Cross-country variance in facial emotion recognition in presymptomatic and symptomatic behavioral variant frontotemporal dementia: Insights from the GENFI and ReDLat consortia

跨国家面部情绪识别在无症状和有症状行为变异型额颞叶痴呆中的差异：来自GENFI和ReDLat consortia的见解

Alzheimer's & Dementia
IF11.1
2025-10-140
OAAI
Liset de Boer; Lize C. Jiskoot; Harro Seelaar; John C. van Swieten; Agustin Ibanez; Marcelo Maito; Sol Fittipaldi; Julie F. H. De Houwer; Tine Swartenbroekx; Pam A. Boesjes; Rhian S. Convery; Eve Ferry-Bolder; Phoebe Foster; Arabella Bouzigues; Lucy Chisman-Russell; Esther van den Berg; Janne Papma; Sanne Franzen; Renelle Bourdage; James B. Rowe; Barbara Borroni; Daniela Galimberti; Pietro Tiraboschi; Mario Masellis; Elizabeth Finger; Robert Laforce; Caroline Graff; Alexander Gerhard; Raquel Sanchez-Valle; Alexandre Mendonça; Fermin Moreno; Matthis Synofzik; Rik Vandenberghe; Simon Ducharme; Isabelle Le Ber; Johannes Levin; Thibaud Lebouvier; Benedetta Nacmias; Markus Otto; Christopher R. Butler; Isabel Santana; Maxime Bertoux; M. Carmela Tartaglia; Jonathan D. Rohrer; Jackie M. Poos; the GENFI Consortium
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: a retrospective cohort study

筛查罕见遗传诊断以评估其是否适合定制反义寡核苷酸疗法的开发：一项回顾性队列研究

Genetics in Medicine
IF6.2
2025-10-110
PRE
David Cheerie; Marlen C. Lauffer; Logan Newton; Kimberly Amburgey; Danique Beijer; Bushra Haque; Brian T. Kalish; Margaret Meserve; Rachel Y. Oh; Amy Y. Pan; Miriam S. Reuter; Michael J. Szego; Anna Szuto; Annemieke Aartsma-Rus; Michelle M. Axford; Ashish R. Deshwar; James J. Dowling; Christian R. Marshall; Zhenya Ivakine; Matthis Synofzik; Timothy W. Yu; Gregory Costain

研究方向

暂未获取到该数据
L
Lüdger Schöls
H 指数:98论文数:1,028被引数:3.7万
M
Markus Otto
H 指数:98论文数:1,054被引数:3.3万
B
Barbara Borroni
H 指数:87论文数:874被引数:3.2万
J
Jonathan D. Rohrer
H 指数:89论文数:695被引数:3.9万
C
Caroline Graff
H 指数:80论文数:590被引数:4.2万
M
Maria Carmela Tartaglia
H 指数:64论文数:663被引数:1.6万
E
Elizabeth Finger
H 指数:82论文数:515被引数:2.3万
J
Johannes Levin
H 指数:73论文数:741被引数:2.2万
S
Simon Ducharme
H 指数:46论文数:332被引数:7,457
S
Sánchez-Valle, R
H 指数:0论文数:13被引数:122