arrow
返回
M

Matias Wagner

technical university of munich

37H指数
258论文数
4.6K被引数
收录论文 125
发表时间
Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant AnalysisNUSAP1变异体的致病性由NMD逃逸决定:来自两个新病例和系统性基于人群的变异体分析的证据
err2026-09-27
err0
errOAAI
errMaureen Jacob; Susann Badmann; Stefania Bigoni; Maria Iascone; Ilaria Vivaldi; Katharina Mayerhanser; Robert Kopajtich; Holger Prokisch; Cristina Forest; Sebastian Eck; Michael Zech; Elisabeth Graf; Matias Wagner; Juliane Winkelmann; Theresa Brunet; Melanie Brugger
err分享
err收藏
Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study成人手术治疗后颞叶癫痫中的罕见遗传变异:一项外显子测序研究
err2026-09-19
err0
errOAAI
errAntonia P. Pirker; Margot Ernst; Matias Wagner; Silvia B. Bonelli; Karin Trimmel; Judith Jud; Elisabeth Graf; Christian Dorfer; Karl Rössler; Susanne Aull-Watschinger; Ekaterina Pataraia; Fritz Zimprich; Martin Krenn
err分享
err收藏
Between myopathy and mortality: Challenges in the diagnosis of PLOD1 -related kyphoscoliotic Ehlers-Danlos syndrome肌病与死亡率之间:PLOD1相关驼背性埃勒斯-当洛斯综合征的诊断挑战
err2026-08-29
err0
PREAI
errKatharina Vill; Theresa Brunet; Melanie Brugger; Matias Wagner; Matthias Baumann; Ulrich Schatz; Astrid Pechmann; Iris Hannibal; Moritz Tacke; Cecilia Giunta; Walter Wohlgemuth; Moritz Wildgruber; Wolfgang Müller-Felber; Astrid Blaschek; Marianne Rohrbach; Veronika Huf
err分享
err收藏
Prominent Movement Disorders in RNU2-2-Related SpliceosomopathyRNU2-2相关剪接体病的显著运动障碍
err2026-05-27
err0
errOAAI
errMagdalena Krygier; Ugo Sorrentino; Matias Wagner; Marta Zawadzka; Anna Lemska; Maria Mazurkiewicz-Bełdzińska; Michael Zech
err分享
err收藏
Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiencyNDUFA5基因的双等位基因变异导致伴有复合体I缺乏的线粒体病
err2026-03-30
err0
errOAAI
errNatalie B. Tan; Matthias Gautschi; Michael Raum; Daniella H. Hock; Robert Kopajtich; Jia Wang; Xiao Qian; Tanavi Sharma; Timothy E. Green; Jean-Marc Nuoffer; Katrina M. Bell; Katarzyna Pospieszny; Tegan Stait; Chloe Pike; Michelle Cao; Susan M. White; David R. Thorburn; Theresa Brunet; Matias Wagner; Wolfgang Müller-Felber
err分享
err收藏
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort成纤维细胞转录组学在综合肌张力障碍队列分子诊断中的应用
err2026-02-02
err0
errOAAI
errAlice Saparov MSc; Ivana Dzinovic PhD; Theresa Brunet MD; Vicente A. Yépez PhD; Florian Hölzlwimmer PhD; Elisabetta Indelicato MD; Birgit Assmann MD; Susann Badmann MD; Diana Ballhausen MD; Steffen Berweck MD; Felix Brechtmann PhD; Melanie Brugger MD; Kevork Derderian MSc; Felix Distelmaier MD; Philip Harrer MD, PhD; Denisa Harvanova PhD; Petra Havrankova MD, PhD; Ann-Kathrin Jaroszynski; Miriam Kolnikova MD; Robert Kopajtich MSc; Anne Koy MD; Magdalena Krygier MD; Lukas Kunc MD; Katarina Kusikova MD; Oliver Maier MD; Maria Mazurkiewicz-Bełdzińska MD; Christian Mertes PhD; Ava Oberlack MD; Timo Roser MD; Alexandra Sitzberger MD; Ugo Sorrentino MD; Antonia M. Stehr MD; Katharina Vill MD; Matias Wagner MD; Holger Prokisch PhD; Sylvia Boesch MD, PhD; Jan Necpal MD, PhD; Robert Jech MD, PhD; Juliane Winkelmann MD; Elisabeth Graf PhD; Julien Gagneur PhD; Matej Skorvanek MD, PhD; Michael Zech MD
err分享
err收藏
Dermatomyositis masking late onset Pompe disease in a patient with proximal muscle weakness皮肌炎掩盖迟发性庞贝病:一例近端肌无力患者的报告
err2025-10-22
err0
errOAAI
errOmar Keritam; Philipp Haas; Sigrid Klotz; Kastriot Kastrati; Martin Krenn; Matias Wagner; Timothy Hasenoehrl; Rosa Weng; Gudrun Zulehner; Gregor Kasprian; Günther Regelsberger; Hans Kiener; Ellen Gelpi; Fritz Zimprich; Hakan Cetin; Thomas Scherer; Suren Jengojan
err分享
err收藏
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorderKDM6B相关的神经发育障碍的临床与分子谱
err2025-10-18
err0
PREAI
errDmitrijs Rots; Taryn E. Jakub; Crystal Keung; Adam Jackson; Siddharth Banka; Rolph Pfundt; Bert B.A. de Vries; Richard H. van Jaarsveld; Saskia M.J. Hopman; Ellen van Binsbergen; Irene Valenzuela; Maja Hempel; Tatjana Bierhals; Fanny Kortüm; Francois Lecoquierre; Alice Goldenberg; Jens Michael Hertz; Charlotte Brasch Andersen; Maria Kibæk; Eloise J. Prijoles; Roger E. Stevenson; David B. Everman; Wesley G. Patterson; Linyan Meng; Charul Gijavanekar; Karl De Dios; Shenela Lakhani; Tess Levy; Matias Wagner; Dagmar Wieczorek; Paul J. Benke; María Soledad Lopez Garcia; Renee Perrier; Sergio B. Sousa; Pedro M. Almeida; Maria José Simões; Bertrand Isidor; Wallid Deb; Andrew A. Schmanski; Omar Abdul-Rahman; Christophe Philippe; Ange-Line Bruel; Laurence Faivre; Antonio Vitobello; Christel Thauvin; Jeroen J. Smits; Livia Garavelli; Stefano G. Caraffi; Francesca Peluso; Laura Davis-Keppen; Dylan Platt; Erin Royer; Lisette Leeuwen; Margje Sinnema; Alexander P.A. Stegmann; Constance T.R.M. Stumpel; George E. Tiller; Daniëlle G.M. Bosch; Stephanus T. Potgieter; Shelagh Joss; Miranda Splitt; Simon Holden; Matina Prapa; Nicola Foulds; Sofia Douzgou; Kaija Puura; Regina Waltes; Andreas G. Chiocchetti; Christine M. Freitag; F. Kyle Satterstrom; Silvia De Rubeis; Joseph Buxbaum; Bruce D. Gelb; Aleksic Branko; Itaru Kushima; Jennifer Howe; Stephen W. Scherer; Alessia Arado; Chiara Baldo; Olivier Patat; Demeer Bénédicte; Diego Lopergolo; Filippo M. Santorelli; Tobias B. Haack; Andreas Dufke; Miriam Bertrand; Ruth J. Falb; Angelika Rieß; Peter Krieg; Stephanie Spranger; Maria Francesca Bedeschi; Maria Iascone; Sarah Josephi-Taylor; Tony Roscioli; Michael F. Buckley; Jan Liebelt; Aditi I. Dagli; Emmelien Aten; Anna C.E. Hurst; Alesha Hicks; Mohnish Suri; Ermal Aliu; Sunil Naik; Richard Sidlow; Juliette Coursimault; Gaël Nicolas; Hanna Küpper; Florence Petit; Veyan Ibrahim; Deniz Top; Francesca Di Cara; Raymond J. Louie; Elliot Stolerman; Han G. Brunner; Lisenka E.L.M. Vissers; Jamie M. Kramer; Tjitske Kleefstra
err分享
err收藏
De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders神经发育障碍个体中PPFIA2基因的新发变异
err2025-10-01
err0
errOAAI
errBrunet, Theresa; Zech, Michael; Schatz, Ulrich A.; Adamovicova, Miriam; Wagner, Matias; Graf, Elisabeth; Berutti, Riccardo; Weigand, Heike; Jech, Robert; Meitinger, Thomas; Winkelmann, Juliane; Brugger, Melanie
err分享
err收藏
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disordersAlphaMissense预测在神经肌肉疾病诊断中对错义变异的评估
err2025-09-05
err0
errOAAI
errMartin Krenn; Axel Schmidt; Matias Wagner; Margot Ernst; Elisabeth Graf; Gudrun Zulehner; Hakan Cetin; Fritz Zimprich; Jakob Rath
err分享
err收藏
Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia整合长读长纳米孔测序技术以精确解析肌张力障碍中的基因组变异
err2025-09-01
err0
errOAAI
errSorrentino, Ugo; Pavlov, Martin; Mirza-Schreiber, Nazanin; Brugger, Melanie; Brunet, Theresa; Tsoma, Eugenia; Saparov, Alice; Dzinovic, Ivana; Harrer, Philip; Stehr, Antonia M.; Wagner, Matias; Tilch, Erik; Wallacher, Barbara; Alhasan, Shiraz; Koy, Anne; Di Fonzo, Alessio; Kolnikova, Miriam; Kusikova, Katarina; Havrankova, Petra; Tautanova, Raushana; Losecke, Sandy; Eck, Sebastian; Boesch, Sylvia; Necpal, Jan; Skorvanek, Matej; Jech, Robert; Prokisch, Holger; Winkelmann, Juliane; Oexle, Konrad; Graf, Elisabeth; Zech, Michael
err分享
err收藏
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
err分享
err收藏
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy解析DST相关疾病:影响DST-b的双等位基因变异导致先天性肌病
errBrain
IF11.7
err2025-06-11
err0
PREAI
errMaureen Jacob; Heike Kölbel; Philip Harrer; Robert Kopajtich; Pinki Munot; Melanie T Achleitner; Susann Badmann; Melanie Brugger; Theresa Brunet; Gisèle Bonne; Marta Codina; Laura Ebner; Peyman Eshraghi; Katharina Eyring; Ahmad Shah Farhat; René G Feichtinger; Elisabeth Graf; Anna Marcé-Grau; Andreas Hahn; Henry Houlden; Ehsan Ghayoor Karimiani; Véronique Manel; Katharina Mayerhanser; Juliette Nectoux; Isabelle Nelson; Rahul Phadke; Holger Prokisch; Saeid Sadeghian; Alice Saparov; Anne Schänzer; Ulrike Schara-Schmidt; Julia Schmidt; Rahel Schuler; Caroline Sewry; Gholamreza Shariati; Silke Slanz; Dmitrii Smirnov; Rivka Sukenik-Halevy; Homa Tajsharghi; Mehran Beiraghi Toosi; Laura Trujillano; Joachim Weis; Louise C Wilson; Rabah Ben Yaou; Mina Zamani; Michael Zech; Jana Zschüntzsch; Uwe Kornak; David Goméz-Andrés; Reza Maroofian; Juliane Winkelmann; Andreas Roos; Felix Distelmaier; Johannes A Mayr; Matias Wagner
err分享
err收藏
Estimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic Data利用基于人群的基因型数据估计常染色体隐性肾脏疾病的终生风险
err2025-04-21
err0
errOAAI
errMatthias Christoph Braunisch; Clara M. Großewinkelmann; Martin Menke; Nora Hannane; Riccardo Berutti; Jasmina Ćomić; Roman Günthner; Lutz Renders; Christoph Schmaderer; Uwe Heemann; Korbinian M. Riedhammer; Matias Wagner; Julia Hoefele
err分享
err收藏
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
err2025-02-01
err0
errOAAI
errLessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; de la Calle-Martin, Oscar; Capra, Valeria; Cardenas, Paul; Chappe, Celine; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christele; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Huning, Irina; Iascone, Maria; Isidor, Bertrand; Jarvela, Irma; Jin, Jay J.; Jorge, Alexander A. L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Koelbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppala, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K. G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor
err分享
err收藏
RICTOR variants are associated with neurodevelopmental disorders
err2024-12-30
err0
PREAI
errCarapito, Raphael; Molitor, Anne; Pavinato, Lisa; Skeyni, Alaa; Lambert, Magalie; Pichot, Angelique; Jiang, Jiuhong; Spinnhirny, Perrine; Zimmermann, Lucie; Boucher, Philippe; Chung, Clara W. T.; Elserafy, Noha; Blair, Edward M.; Li, Dong; Elisabeth, Bhoj; Kotzaeridou, Urania; Karch, Stephanie; Wagner, Matias; Lunsing, Roelineke J.; Pfundt, Rolph; Boycott, Kym M.; Bruel, Ange-Line; Mau-Them, Frederic Tran; Moutton, Sebastien; Conti, Valerio; Mei, Davide; Cetica, Valentina; Guerrini, Renzo; Brunet, Theresa; Rump, Patrick; Mussa, Alessandro; Brusco, Alfredo; Lemire, Gabrielle; de Vries, Bert B. A.; Miao, Zhichao; Isidor, Bertrand; Bahram, Seiamak
err分享
err收藏
Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency fi ciency with Neurologic and Muscular Phenotypes
err2024-11-01
err2
PREAI
errKobayashi, Erica Sanford; Lotan, Nava Shaul; Schejter, Yael Dinur; Makowski, Christine; Kraus, Verena; Ramchandar, Nanda; Meiner, Vardiella; Thiffault, Isabelle; Farrow, Emily; Cakici, Julie; Kingsmore, Stephen; Wagner, Matias; Rieber, Nikolaus; Bainbridge, Matthew
err分享
err收藏
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotoniaZFTRAF1的双等位基因功能丧失变体导致小头畸形和肌张力低下的神经发育障碍
err2024-07-01
err0
errOAAI
errAsif, Maria; Khayyat, Arwa Ishaq A.; Alawbathani, Salem; Abdullah, Uzma; Sanner, Anne; Georgomanolis, Theodoros; Haasters, Judith; Becker, Kerstin; Budde, Birgit; Becker, Christian; Thiele, Holger; Baig, Shahid M.; Isidoro-Garcia, Maria; Winter, Dominic; Pogoda, Hans -Martin; Muhammad, Sajjad; Hammerschmidt, Matthias; Kraft, Florian; Kurth, Ingo; Martin, Hilario Gomez; Wagner, Matias; Nuernberg, Peter; Hussain, Muhammad Sajid
err分享
err收藏
Neurofilaments and progranulin are related to atrophy in frontotemporal lobar degeneration - A transdiagnostic study cross-validating atrophy and fluid biomarkers神经丝和颗粒蛋白前体与额颞叶变性中的萎缩有关-一项跨诊断研究,交叉验证萎缩和体液生物标志物
err2024-06-12
err2
errOAAI
errHueper, Lea; Steinacker, Petra; Polyakova, Maryna; Mueller, Karsten; Godulla, Jannis; Herzig, Sabine; Danek, Adrian; Engel, Annerose; Diehl-Schmid, Janine; Classen, Joseph; Fassbender, Klaus; Fliessbach, Klaus; Jahn, Holger; Kassubek, Jan; Kornhuber, Johannes; Landwehrmeyer, Bernhard; Lauer, Martin; Obrig, Hellmuth; Oeckl, Patrick; Prudlo, Johannes; Saur, Dorothee; Anderl-Straub, Sarah; Synofzik, Matthis; Wagner, Matias; Wiltfang, Jens; Winkelmann, Juliane; Volk, Alexander E.; Huppertz, Hans-Juergen; Otto, Markus; Schroeter, Matthias L.
err分享
err收藏