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Lüdger Schöls

tübingen university hospital

98H指数
1.0K论文数
3.7W被引数
收录论文 294
发表时间
No Evidence for an Association Between DIP2B Repeat Expansion and Neurological DiseaseDIP2B重复序列扩张与神经疾病之间无关联的证据
err2026-07-29
err0
errOAAI
errChia-Ying Ko MSc; Leon Schütz MSc; Thomas Braun MSc; Elena Buena-Atienza PhD; Nicolas Casadei PhD; Danique Beijer PhD; Ludger Schöls MD; Tobias B. Haack MD; Stephan Ossowski PhD
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The ILLUMINATE natural history study in colony-stimulating factor 1 receptor-related adult-onset leukoencephalopathy with axonal spheroids and pigmented gliaILLUMINATE自然史研究:集落刺激因子1受体相关的成人起病伴轴突球和色素性神经胶质细胞的白质脑病
err2026-07-14
err0
errOAAI
errDavid S Lynch; Charles Wade; Ludger Schöls; Stefanie N Hayer; Jeffrey M Gelfand; Wolfgang Köhler; Christa-Caroline Bergner; Paulo Victor Sgobbi de Souza; Elizabeth C Finger; Nicole I Wolf; Shanice Beerepoot; Jennifer L Orthmann-Murphy; Tomasz Chmiela; Raj Rajagovindan; Donald G McLaren; Francois Gaudreault; Christian Mirescu; Denitza Raitcheva; Andreas Meier; David Gray; Juan Chavez; Petra Kaufmann; Zbigniew K Wszolek
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Genotype–structure–phenotype correlations define divergent natural history in early-onset spastic paraplegia type 4基因型-结构-表型相关性定义早发型痉挛性截瘫4型的不同自然史
errBrain
IF11.7
err2026-05-05
err0
PREAI
errJulian E Alecu; Luca M Schierbaum; Amy Tam; Vicente Quiroz; Katerina Bernardi; Kathryn Yang; Johanna R Roller; Marion Döbler-Neumann; Tim W Rattay; Carelis González-Salazar; Elena A Zehr; Daniils Skorohodovs; Josh Rong; Siofra Carty; Nicole Battaglia; Seungbok Lee; Jangsup Moon; Michelle Christie; Antonina Roll-Mecak; Marcondes C França Jr; Rebecca Schüle; Ludger J Schöls; Darius Ebrahimi-Fakhari
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The RAB3A hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrum
errBrain
IF11.7
err2026-01-02
err0
PREAI
errJohanna 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
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Nerve Ultrasound in Patients With Friedreich Ataxia弗里德赖希共济失调患者的神经超声
err2025-12-01
err0
errOAAI
errKneer, Katharina; Stahl, Jan-Hendrik; Winter, Natalie; Wittlinger, Julia; Mannlin, Stephanie; Gasimli, Toghrul; Schols, Ludger; Fleszar, Zofia; Hayer, Stefanie; Grimm, Alexander
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The Medication Patterns of Spinocerebellar Ataxia Type 3 Mutation Carriers Enrolled in the ESMI Cohort脊髓小脑共济失调3型突变携带者在ESMI队列中的用药模式
err2025-10-17
err0
errOAAI
errPatrick Silva; Marina A. Costa; Laetitia Gaspar; João Durães; Inês Cunha; Joana A Ribeiro; Cristina Januário; Bárbara Oliveiros; Jeannette Hübener-Schmid; Jennifer Faber; Mafalda Raposo; Manuela Lima; Hector Garcia-Moreno; Paola Giunti; Lukas Beichert; Ludger Schöls; Bart P. van de Warrenburg; Jeroen de Vries; Andreas Thieme; Kathrin Reetz; Heike Jacobi; Jon Infante; Thomas Klockgether; Luís Pereira de Almeida; Magda M. Santana
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Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study对EFACTS研究中弗里德赖希共济失调患者12年内改良版非共济失调体征清单的分析
err2025-10-10
err0
errOAAI
errStella Andrea Lischewski MD; Imis Dogan PhD; Paola Giunti MD; Michael H. Parkinson MD; Caterina Mariotti MD; Alexandra Durr MD; Claire Ewenczyk MD; Sylvia Boesch MD; Wolfgang Nachbauer MD; Thomas Klopstock MD; Claudia Stendel MD; Francisco Javier Rodríguez de Rivera Garrido MD; Ludger Schöls MD; Zofia Fleszar MD; Thomas Klockgether MD; Marcus Grobe-Einsler MD; Ilaria Giordano MD; Myriam Rai PhD; Massimo Pandolfo MD; Heike Jacobi MD; Ralf-Dieter Hilgers PhD; Jörg B. Schulz MD; Kathrin Reetz MD; the EFACTS Study Group
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GAA-FGF14 Expansions and CACNA1A Variants: Phenotypic Overlap and Diagnostic ImplicationsGAA-FGF14 扩增和 CACNA1A 变异:表型重叠及诊断意义
err2025-08-19
err0
errOAAI
errElisabetta Indelicato MD, PhD; Zofia Fleszar MD; David Pellerin MD; Wolfgang Nachbauer MD, PhD; Stephan Zuchner MD, PhD; Andreas Traschütz MD; Matthias Amprosi MD; Ludger Schöls MD; Tobias B. Haack MD; Bernard Brais MD, PhD; Sylvia Boesch MD; Matthis Synofzik MD
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ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic LeukodystrophyARSA变体与认知能力下降及异染性脑白质营养不良中运动功能的长期维持相关
err2025-08-02
err0
errOAAI
errShanice Beerepoot; Daphne H. Schoenmakers; Francesca Fumagalli; Samuel Groeschel; Ludger Schöls; Raphael Schiffmann; Sheila Wong; Odile Boespflug-Tanguy; Caroline Sevin; Yann Nadjar; Annette Bley; Fanny Mochel; Morten A. Horn; Cristina Baldoli; Sara Locatelli; Holger Hengel; Lucia Laugwitz; Carla E. M. Hollak; Volkmar Gieselmann; Marjo S. van der Knaap; Nicole I. Wolf
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AAV8-based gene replacement therapy for hereditary spastic paraplegia type 5基于AAV8的基因替代疗法治疗遗传性痉挛性截瘫5型
err2025-07-15
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errOAAI
errLinus Wiora; Qinggong Yuan; Sebastian Hook; Melanie Kraft; Ingemar Björkhem; Michael Ott; Stefan Hauser; Ludger Schöls
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Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings作者更正: 将下一代表型整合到超早期疾病患者的国家框架中,可改善遗传诊断并产生新的分子发现
err2025-06-24
err0
errOAAI
errAxel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa; Luisa Averdunk; Felix Boschann; Henrike Lisa Sczakiel; Sarina Schwartzmann; Martin Atta Mensah; Jean Tori Pantel; Manuel Holtgrewe; Annemarie Bösch; Claudia Weiß; Natalie Weinhold; Aude-Annick Suter; Corinna Stoltenburg; Julia Neugebauer; Tillmann Kallinich; Angela M. Kaindl; Susanne Holzhauer; Christoph Bührer; Philip Bufler; Uwe Kornak; Claus-Eric Ott; Markus Schülke; Hoa Huu Phuc Nguyen; Sabine Hoffjan; Corinna Grasemann; Tobias Rothoeft; Folke Brinkmann; Nora Matar; Sugirthan Sivalingam; Claudia Perne; Elisabeth Mangold; Martina Kreiss; Kirsten Cremer; Regina C. Betz; Martin Mücke; Lorenz Grigull; Thomas Klockgether; Isabel Spier; André Heimbach; Tim Bender; Fabian Brand; Christiane Stieber; Alexandra Marzena Morawiec; Pantelis Karakostas; Valentin S. Schäfer; Sarah Bernsen; Patrick Weydt; Sergio Castro-Gomez; Ahmad Aziz; Marcus Grobe-Einsler; Okka Kimmich; Xenia Kobeleva; Demet Önder; Hellen Lesmann; Sheetal Kumar; Pawel Tacik; Meghna Ahuja Bhasin; Pietro Incardona; Min Ae Lee-Kirsch; Reinhard Berner; Catharina Schuetz; Julia Körholz; Tanita Kretschmer; Nataliya Di Donato; Evelin Schröck; André Heinen; Ulrike Reuner; Amalia-Mihaela Hanßke; Frank J. Kaiser; Eva Manka; Martin Munteanu; Alma Kuechler; Kiewert Cordula; Raphael Hirtz; Elena Schlapakow; Christian Schlein; Jasmin Lisfeld; Christian Kubisch; Theresia Herget; Maja Hempel; Christina Weiler-Normann; Kurt Ullrich; Christoph Schramm; Cornelia Rudolph; Franziska Rillig; Maximilian Groffmann; Ania Muntau; Alexandra Tibelius; Eva M. C. Schwaibold; Christian P. Schaaf; Michal Zawada; Lilian Kaufmann; Katrin Hinderhofer; Pamela M. Okun; Urania Kotzaeridou; Georg F. Hoffmann; Daniela Choukair; Markus Bettendorf; Malte Spielmann; Annekatrin Ripke; Martje Pauly; Alexander Münchau; Katja Lohmann; Irina Hüning; Britta Hanker; Tobias Bäumer; Rebecca Herzog; Yorck Hellenbroich; Dominik S. Westphal; Tim Strom; Reka Kovacs; Korbinian M. Riedhammer; Katharina Mayerhanser; Elisabeth Graf; Melanie Brugger; Julia Hoefele; Konrad Oexle; Nazanin Mirza-Schreiber; Riccardo Berutti; Ulrich Schatz; Martin Krenn; Christine Makowski; Heike Weigand; Sebastian Schröder; Meino Rohlfs; Katharina Vill; Fabian Hauck; Ingo Borggraefe; Wolfgang Müller-Felber; Ingo Kurth; Miriam Elbracht; Cordula Knopp; Matthias Begemann; Florian Kraft; Johannes R. Lemke; Julia Hentschel; Konrad Platzer; Vincent Strehlow; Rami Abou Jamra; Martin Kehrer; German Demidov; Stefanie Beck-Wödl; Holm Graessner; Marc Sturm; Lena Zeltner; Ludger J. Schöls; Janine Magg; Andrea Bevot; Christiane Kehrer; Nadja Kaiser; Ernest Turro; Denise Horn; Annette Grüters-Kieslich; Christoph Klein; Stefan Mundlos; Markus Nöthen; Olaf Riess; Thomas Meitinger; Heiko Krude; Peter M. Krawitz; Tobias Haack; Nadja Ehmke; Matias Wagner
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Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism杂合RAB3A变异通过部分失活机制导致小脑共济失调
errBRAIN
IF11.7
err2025-06-01
err2
PREAI
errHengel, Holger; Hannan, Shabab B.; Reich, Selina; Beijer, Danique; Roller, Johanna; Gilsbach, Bernd K.; Gloeckner, Christian Johannes; Greene, Daniel; Timmann, Dagmar; Depienne, Christel; Mumford, Andrew; O'Driscoll, Mary; Nemeth, Andrea H.; Lundberg, Julie; Rodan, Lance H.; Bruel, Ange-Line; Delanne, Julian; Deconinck, Tine; Baets, Jonathan; Gan-Or, Ziv; Rouleau, Guy; Suchowersky, Oksana; Estiar, Mehrdad A.; Reich, Stephen; Toro, Camilo; Zuechner, Stephan; Hazan, Jamile; Petursson, Hjoervar; Harmuth, Florian; Bauer, Claudia; Bauer, Peter; Turro, Ernest; Lambright, David; Schoels, Ludger; Synofzik, Matthis
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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
err2025-05-01
err0
PREAI
errBeijer, 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
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Gene therapy in advanced metachromatic leukodystrophy: tempering expectations
err2024-11-28
err0
errOAAI
errSchoenmakers, Daphne H.; Beerepoot, Shanice; Adang, Laura A.; Asbreuk, Marije A. B. C.; Bergner, Caroline G.; Bley, Annette E.; Boelens, Jaap-Jan; Calbi, Valeria; Darling, Alejandra; Eklund, Erik; Garcia Cazorla, Angeles; Gronborg, Sabine W.; Groeschel, Samuel; van Hasselt, Peter M.; Hollak, Carla E. M.; Horgan, Claire; Jones, Simon; de Koning, Tom; Laugwitz, Lucia; Lindemans, Caroline; Martin, Pascal; Mochel, Fanny; Oberg, Andreas; Ram, Dipak; Sevin, Caroline; Schoels, Ludger; Zerem, Ayelet; Wolf, Nicole, I; Fumagalli, Francesca
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Clinical and neuroradiological spectrum of biallelic variants in NOTCH3
err2024-09-01
err0
errOAAI
errIruzubieta, Pablo; Alves, Cesar Augusto Pinheiro Ferreira; Al Shamsi, Aisha M.; Elghazali, Gehad; Zaki, Maha S.; Pinelli, Lorenzo; Lopergolo, Diego; Cho, Bernard P. H.; Jolly, Amy A.; Al Futaisi, Amna; Al-Amrani, Fatema; Galli, Jessica; Fazzi, Elisa; Vulin, Katarina; Barajas-Olmos, Francisco; Hengel, Holger; Aljamal, Bayan Mohammed; Nasr, Vahideh; Assarzadegan, Farhad; Ragno, Michele; Trojano, Luigi; Ojeda, Naomi Meave; Cakar, Arman; Bianchi, Silvia; Pescini, Francesca; Poggesi, Anna; Al Tenalji, Amal; Aziz, Majid; Mohammad, Rahema; Chedrawi, Aziza; De Stefano, Nicola; Zifarelli, Giovanni; Schoels, Ludger; Haack, Tobias B.; Rebelo, Adriana; Zuchner, Stephan; Koc, Filiz; Griffiths, Lyn R.; Orozco, Lorena; Helmes, Karla Garcia; Babaei, Meisam; Bauer, Peter; Jeong, Won Chan; Karimiani, Ehsan Ghayoor; Schmidts, Miriam; Gleeson, Joseph G.; Chung, Wendy K.; Alkuraya, Fowzan Sami; Shalbafan, Bita; Markus, Hugh S.; Houlden, Henry; Maroofian, Reza
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The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy
err2024-08-01
err0
errOAAI
errWeber, Jonasz J.; Czisch, Leah; Sena, Priscila Pereira; Fath, Florian; Huridou, Chrisovalantou; Schwarz, Natasa; Eltemur, Rana D. Incebacak; Wuerth, Anna; Weishaeupl, Daniel; Doecker, Miriam; Blumenstock, Gunnar; Martins, Sandra; Sequeiros, Jorge; Rouleau, Guy A.; Jardim, Laura Bannach; Saraiva-Pereira, Maria-Luiza; Franca Jr, Marcondes C.; Gordon, Carlos R.; Zaltzman, Roy; Cornejo-Olivas, Mario R.; van de Warrenburg, Bart P. C.; Durr, Alexandra; Brice, Alexis; Bauer, Peter; Klockgether, Thomas; Schoels, Ludger; Riess, Olaf; Schmidt, Thorsten
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Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences
err2024-07-22
err0
errOAAI
errKagermeier, Theresa; Hauser, Stefan; Sarieva, Kseniia; Laugwitz, Lucia; Groeschel, Samuel; Janzarik, Wibke G.; Yentuer, Zeynep; Becker, Katharina; Schoels, Ludger; Kraegeloh-Mann, Ingeborg; Mayer, Simone
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