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A

Andreas Traschütz

Eberhard Karls University of Tubingen
H指数:22
被引数:2,249

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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
Frequency and phenotype of GAA-FGF14 disease in bilateral vestibulopathy syndromes: insights from repeat expansion carriers, including a case of co-occurrence with RFC1-related CANVAS

GAA-FGF14疾病在双侧前庭病变综合征中的频率和表型：来自重复扩张携带者的见解，包括与RFC1相关CANVAS的共病案例

Journal of Neurology
IF4.6
2026-05-250
OA
David Pellerin; Felix Heindl; Andreas Traschütz; Pablo Iruzubieta; Marie-Josée Dicaire; Stephan Zuchner; Annette M. Hartmann; Dan Rujescu; Henry Houlden; Bernard Brais; Michael Strupp; Matthis Synofzik
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
Spastic Ataxia Composite (SPAXCOM): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia

痉挛性共济失调复合量表 (SPAXCOM)：用于评估具有痉挛和共济失调特征的受试者病情进展的量表

Movement Disorders
IF7.6
2025-08-200
OAAI
Cécile Di Folco MsC; Charlotte Dubec-Fleury MsC; Andreas Traschütz MD, PhD; Christoph Kessler MD; Selina Reich MsC; Cynthia Gagnon PhD; Isabelle Lessard MsC; Xavier Rodrigue MD; Sirio Cocozza MD, PhD; Sara Satolli MD; Filippo M. Santorelli MD; Alexandra Durr MD, PhD; Anna Heinzmann MD; Bart P. van de Warrenburg MD; Ilse H.J. Willemse MsC; A. Nazli Başak MD; Atay Vural MD; Bernard Brais MD; Stephan Klebe MD; Rita Horvath MD, PhD; PROSPAX Consortium; Rebecca Schüle MD; Matthis Synofzik MD, PhD; Sophie Tezenas du Montcel MD, PhD
Best Oculomotor Endpoints for Clinical Trials in Hereditary Ataxias: A Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital‑Motor Biomarkers

遗传性共济失调临床试验的最佳眼动终点：数字运动生物标志物共济失调全球倡议工作组系统综述与共识

cerebellum
IF0
2025-08-130
OAAI
Elena Pretegiani; Pilar Garces; Chrystalina A. Antoniades; Anna Sobanska; Norbert Kovacs; Sarah H. Ying; Anoopum S. Gupta; Susan Perlman; David J. Szmulewicz; Chiara Pane; Andrea H. Németh; Laura B. Jardim; Giulia Coarelli; Michaela Kuzmiak; Andona Milovanovic; Andreas Traschütz; Alexander A. Tarnutzer
Integrated Modeling of Digital-Motor and Clinician-Reported Outcomes Using Item Response Theory: Towards Powerful Trials for Rare Neurological Diseases

基于项目反应理论的数字-运动与临床报告结局的整合建模：面向罕见神经疾病的强力试验

cpt pharmacometrics systems pharmacology
IF0
2025-07-210
OAAI
Alzahra Hamdan; Andreas Traschütz; Lukas Beichert; Xiaomei Chen; Cynthia Gagnon; Bart P. van de Warrenburg; Filippo M. Santorelli; Nazlı Başak; Giulia Coarelli; Rita Horvath; Stephan Klebe; PROSPAX consortium; EVIDENCE-RND consortium; Rebecca Schüle; Andrew C. Hooker; Matthis Synofzik; Mats O. Karlsson
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort

散发性成人起病性退行性共济失调的遗传景观：一项对377例SPORTAX队列纵向多中心研究连续患者的多模式遗传学研究

EBIOMEDICINE
IF10.8
2025-05-010
PRE
Beijer, Danique; Mengel, David; Onder, Demet; Wilke, Carlo; Traschuetz, Andreas; Faber, Jennifer; Timmann, Dagmar; Boesch, Sylvia; Vielhaber, Stefan; Klopstock, Thomas; Warrenburg, Bart P. van de; Silvestri, Gabriella; Kamm, Christoph; Wedding, Iselin Marie; Fleszar, Zofia; Harmuth, Florian; Dufke, Claudia; Brais, Bernard; Riess, Olaf; Schoels, Ludger; Haack, Tobias; Zuechner, Stephan; Pellerin, David; Klockgether, Thomas; Synofzik, Matthis
MRI-ARSACS: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Identification Based on the Multicenter PROSPAX Study
MOVEMENT DISORDERS
IF7.6
2024-06-071
PRE
Scaravilli, Alessandra; Negroni, Davide; Senatore, Claudio; Ugga, Lorenzo; Cosottini, Mirco; Ricca, Ivana; Bender, Benjamin; Traschuetz, Andreas; Basak, Ayse Nazli; Vural, Atay; van de Warrenburg, Bart P.; Durr, Alexandra; La Piana, Roberta; Timmann, Dagmar; Schuele, Rebecca; Synofzik, Matthis; Santorelli, Filippo Maria; Cocozza, Sirio

研究方向

暂未获取到该数据
M
Matthis Synofzik
H 指数:77论文数:761被引数:2.2万
L
Lüdger Schöls
H 指数:98论文数:1,028被引数:3.7万
R
Rebecca Schüle
H 指数:60论文数:573被引数:1.1万
T
Tobias B. Haack
H 指数:69论文数:471被引数:1.5万
D
David Pellerin
H 指数:24论文数:121被引数:1,684
T
Thomas Klockgether
H 指数:104论文数:2,398被引数:4.3万
B
Bernard Brais
H 指数:52论文数:363被引数:9,986
F
Filippo M. Santorelli
H 指数:75论文数:864被引数:2.2万
D
Dagmar Timmann
H 指数:73论文数:520被引数:1.9万
M
Mathieu Anheim
H 指数:59论文数:381被引数:1.6万