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Michael Zech

technical university of munich

26H指数
185论文数
2.7K被引数
收录论文 114
发表时间
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KCNA2 ‐Associated Hereditary Spastic Paraplegia: Clinical Characteristics and Rationale for Targeted Treatment KCNA2 相关遗传性痉挛性截瘫痷：临床特征及靶向治疗依据
errMovement Disorders
IF7.6
err2026-10-07
err0
PREAI
errChristian M. Boßelmann; Martin Vyhnalek; Zuzana Blichova; Ludmila Novotna; Anna Uhrova Meszarosova; Petra Havránková; Elena Kuster; Robert J. Lauerer; Ulrike B.S. Hedrich; Hang Lyu; Mayke Oosterloo; Michael Alber; Ludger Schöls; Karen Müller‐Schlüter; Almut Turid Bischoff; Thomas Klopstock; Georgios Koutsis; Georgia Karadima; Stephanie Efthymiou; Henry Houlden; Ainara Salazar‐Villacorta; Colin A. Ellis; Anna Scheper; Dieter Gläser; Tobias B. Haack; Matias Wagner; Michael Zech; Konrad Platzer; Pasquale Striano; Steffen Syrbe; Rebecca Schüle; Holger Lerche
err分享
err收藏
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
errClinical Genetics
IF2.3
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
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Nanopore long-read sequencing facilitates accurate diagnosis of KMT2B-related dystonia纳米孔长读测序促进KMT2B相关肌张力障碍的准确诊断
errClinical Epigenetics
IF4.4
err2026-09-17
err0
errOAAI
errUgo Sorrentino; Nazanin Mirza-Schreiber; Martin Pavlov; Fatemeh Peymani; Petra Havrankova; Elisabetta Indelicato; Tereza Serranová; Lukas Kunc; Sandy Lösecke; Erik Tilch; Sebastian Eck; Holger Prokisch; Juliane Winkelmann; Sylvia Boesch; Robert Jech; Elisabeth Graf; Konrad Oexle; Michael Zech
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err收藏
Motor coordination and behavioural deficits in a mouse model of KMT2B-related dystoniaKMT2B相关肌张力障碍小鼠模型的运动协调和行为缺陷
errNeurobiology of Disease
IF5.6
err2026-09-01
err0
PREAI
errHarrer, Philip; Kranz, Andrea; Becker, Lore; Garrett, Lillian; Holter, Sabine M.; Sanz-Moreno, Adrian; Amarie, Oana, V; Rathkolb, Birgit; Leuchtenberger, Stefanie; Gailus-Durner, Valerie; Fuchs, Helmut; de Angelis, Martin Hrabe; Saparov, Alice; Sieber, Celestine; Kittke, Volker; Mirza-Schreiber, Nazanin; Stewart, A. Francis; Winkelmann, Juliane; Oexle, Konrad; Pocratsky, Amanda; Zech, Michael
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err收藏
CACNA1C-Related Channelopathy Presenting With Adult-Onset Combined Dystonia-Parkinsonism: A Novel Neurological PresentationCACNA1C相关通道病表现为成人发病的联合肌张力障碍-帕金森综合征：一种新颖的神经病学表现
errAmerican Journal of Medical Genetics Part A
IF1.7
err2026-09-01
err0
PREAI
errOttaviani, Donatella; Bacchin, Ruggero; Pjeci, Arlend; Malaguti, Maria Chiara; Longo, Chiara; Sarubbo, Silvio; Giometto, Bruno; Dzinovic, Ivana; Zech, Michael; Di Fonzo, Alessio; Monfrini, Edoardo
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err收藏
Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics通过多模态基因组学和多组学解析未诊断罕见运动障碍中的复杂结构变异
errMovement Disorders
IF7.6
err2026-07-29
err0
errOAAI
errUgo Sorrentino MD; Melanie Brugger MD; Alice Saparov MSc; Ivana Dzinovic PhD; Philip Harrer MD, PhD; Sandy Lösecke; Kevork Derderian MSc; Martin Pavlov MSc; Robert Kopajtich MSc; Holger Prokisch PhD; Arcangela Iuso PhD; Maria Mazurkiewicz-Bełdzińska MD; Deike Weiss MD; Christina Ludwig PhD; Miriam Abele PhD; Julia Mergner PhD; Juliane Winkelmann MD; Theresa Brunet MD; Michał Schinwelski MD; Elisabeth Graf PhD; Katja Kloth-Stachnau MD; Theresia Herget MD; Magdalena Krygier MD, PhD; Michael Zech MD
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Atypical Atypical MECP2-Related Rett Syndrome Presenting with Movement Disorders- Predominating Phenotype非典型MECP2相关雷特综合征伴运动障碍-占主导表型
errMovement Disorders Clinical Practice
IF2.7
err2026-06-02
err0
PREAI
errJán Necpál MD, PhD; Paula Stretavská MD; Elisabetta Indelicato MD, PhD; Evžen Růžička MD, DSc; Matej Škorvánek MD, PhD; Bibiána Jeleňová MD; Sylvia Boesch MD, MSc; Robert Jech MD, PhD; Michael Zech MD
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Prominent Movement Disorders in RNU2-2-Related SpliceosomopathyRNU2-2相关剪接体病的显著运动障碍
errAnnals of Clinical and Translational Neurology
IF3.9
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
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality蛋白酶体调节因子PSMF1的变异导致从帕金森病到围产期死亡表型谱
errNature Communications
IF15.7
err2026-04-15
err0
errOAAI
errFrancesca Magrinelli; Christelle Tesson; Plamena R. Angelova; Jose A. Rodriguez; Annarita Scardamaglia; Benjamin O’Callaghan; Simon A. Lowe; Ainara Salazar-Villacorta; Brian Hon-Yin Chung; Matthew Jaconelli; Barbara Vona; Noemi Esteras; Angela Mammana; Junko Shimazu; Anna Ka-Yee Kwong; Thomas Courtin; Shahryar Alavi; Reza Maroofian; Raja Nirujogi; Mariasavina Severino; Edoardo Monfrini; Clarissa Rocca; Patrick A. Lewis; Stephanie Efthymiou; Rebecca Buchert; Linda Sofan; Pawel Lis; Chloé Pinon; Guido J. Breedveld; Martin Man-Chun Chui; David Murphy; Vanessa Pitz; Mary B. Makarious; Simone Baiardi; Marina Volin; Marlene Cassar; Bassem A. Hassan; Sana Iftikhar; Peter Bauer; Michele Tinazzi; Marina Svetel; Bedia Samanci; Haşmet A. Hanağası; Basar Bilgiç; Francesco Cavallieri; Mario Santangelo; José A. Obeso; Monica M. Kurtis; Guillaume Cogan; Güneş Kiziltan; Tuğçe Gül-Demirkale; Hülya Tireli; Gülbün A. Yüksel; Gül Yalçın-Cakmakli; Bülent Elibol; Nina Barišić; Earny Wei-Sen Ng; Sze-Shing Fan; Tova Hershkovitz; Karin Weiss; Javeria Raza Alvi; Tipu Sultan; Issam Azmi Alkhawaja; Tawfiq Froukh; Hadeel Abdollah E. Alrukban; Muhammad Nadeem Anjum; Anjum Saeed; Huma Arshad Cheema; Christine Fauth; Ulrich A. Schatz; Thomas Zöggeler; Michael Zech; Karen Stals; Vinod Varghese; Sonia Gandhi; Cornelis Blauwendraat; John A. Hardy; Alessio Di Fonzo; Vincenzo Bonifati; Tobias B. Haack; Aida M. Bertoli-Avella; Suzanne Lesage; Ayşe Nazlı Başak; Robert Steinfeld; Piero Parchi; James E. C. Jepson; Dario R. Alessi; Alexis Brice; Hermann Steller; Andrey Y. Abramov; Kailash P. Bhatia; Henry Houlden
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Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4神经发育障碍伴肌张力障碍和舞蹈症，与剪接调节因子SRRM4的新生变异相关
errMovement Disorders
IF7.6
err2026-04-09
err0
errOAAI
errPhilip Harrer MD, PhD; Volker Kittke PhD; Alice Saparov MSc; Alexej Knaus MD; Shimriet Zeidler MD; Rachel Schot MD; Florian Kraft MD; Matthias Begemann MD; Suzanna Koudijs MD; Ugo Sorrentino MD; Chen Zhao PhD; Ivana Dzinovic PhD; Martin Pavlov MSc; Elisabeth Graf PhD; Antonia M. Stehr MD; Peter M. Krawitz MD; Christian Wilhelm PhD; Saskia Biskup MD; Fahd Alsalloum MD; Steffen Berweck MD; Juliane Winkelmann MD; Konrad Oexle MD; Ingo Kurth MD; G. Christoph Korenke MD; Michael Zech MD
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err收藏
Long-Term Benefit of GPi-DBS in Two Siblings with BCL11B-Related Dystonia: An Uncommon but Potentially Treatable ConditionGPi-DBS治疗BCL11B相关肌张力障碍的长期获益：一种罕见但潜在可治疗的疾病
errMovement Disorders Clinical Practice
IF2.7
err2026-04-02
err0
PREAI
errVeronika Magocova MD, PhD; Tatiana Svorenova MD PhD; Vladimir Han MD, PhD; Jan Bánoci MD, PhD; Vladimír Kaťuch MD, PhD; Aurelia Kollova MD, PhD; Kamil Knorovsky MD, PhD; Miriam Ostrozovicova MD, PhD; Michael Zech MD, PhD; Matej Skorvanek MD, PhD
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Collaborative Genomics for Dystonia in Central and Eastern Europe: Successes Achieved, New Frontiers Ahead中欧和东欧肌张力障碍的协作基因组学研究：已取得的成就，新的前沿在望
errMovement Disorders
IF7.6
err2026-04-02
err0
errOAAI
errRobert Jech MD, PhD; Petra Havránková MD, PhD; Eugenia Tsoma MD; Lukáš Kunc MD; Tomáš Krajča MD; Ján Necpál MD; Olga Ulmanová MD, PhD; Aleksandra Tomic MD; Ivana Dzinovic PhD; Irena Rektorová MD, PhD; Marek Baláž MD; Tereza Serranová MD; Stanislava Jaselska MD; Maria Giertlova MD; Kristina Kulcsarova MD; Alexandra Lackova MD; Denisa Harvanova MD; Miriam Ostrozovicova MD; Vladimir Han MD; GenDy Collaborators; Matej Škorvánek MD, PhD; Michael Zech MD
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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
errAnnals of Neurology
IF7.7
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
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Pleiotropic effects of MORC2 derive from its epigenetic signatureMORC2的多种表型效应源于其表观遗传特征
errBRAIN
IF11.7
err2025-12-01
err1
errOAAI
errPeymani, Fatemeh; Ebihara, Tomohiro; Smirnov, Dmitrii; Kopajtich, Robert; Ando, Masahiro; Bertini, Enrico; Carrozzo, Rosalba; Diodato, Daria; Distelmaier, Felix; Fang, Fang; Ghezzi, Daniele; Hempel, Maja; Iwanicka-Pronicka, Katarzyna; Klopstock, Thomas; Stenton, Sarah L.; Lamperti, Costanza; Liu, Zhimei; Murtazina, Aysylu; Okamoto, Yuji; Okazaki, Yasushi; Piekutowska-Abramczuk, Dorota; Rotig, Agnes; Ryzhkova, Oxana; Schlein, Christian; Shagina, Olga; Takashima, Hiroshi; Tsygankova, Polina; Zech, Michael; Meitinger, Thomas; Shimura, Masaru; Murayama, Kei; Prokisch, Holger
err分享
err收藏
Novel Pathogenic GCH1 Variant in Familial DOPA-Responsive Dystonia新型致病性GCH1变异体在家族性多巴反应性肌张力障碍中的作用
errNEUROPEDIATRICS
IF1.2
err2025-12-01
err0
PREAI
errEngel, Johanna; Dzinovic, Ivana; Zech, Michael; Janzarik, Wibke G.
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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
errAmerican Journal of Medical Genetics Part A
IF1.7
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
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err收藏
A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features一种新型的α-突触核蛋白G14R错义变体与不典型神经病理特征相关联
errMolecular Neurodegeneration
IF17.5
err2025-09-28
err0
errOAAI
errChristof Brücke; Mohammed Al-Azzani; Nagendran Ramalingam; Maria Ramón; Rita L. Sousa; Fiamma Buratti; Michael Zech; Kevin Sicking; Leslie Amaral; Ellen Gelpi; Aswathy Chandran; Aishwarya Agarwal; Susana R. Chaves; Claudio O. Fernández; Ulf Dettmer; Janin Lautenschläger; Markus Zweckstetter; Ruben Fernandez Busnadiego; Alexander Zimprich; Tiago Fleming Outeiro
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A Novel α-Synuclein K58N Missense Variant in a Patient with Parkinson's Disease一种新型α-突触核蛋白K58N错义变异在一名帕金森病患者中的发现
errMovement Disorders
IF7.6
err2025-09-04
err0
errOAAI
errMohammed Al-Azzani PhD; Sandrina Weber MD; Nagendran Ramalingam PhD; Maria Ramón MSc; Liana Shvachiy PhD; Gonçalo Mestre MSc; Michael Zech MD; Kevin Sicking PhD; Alain Ibáñez de Opakua PhD; Vidyashree Jayanthi BSc; Leslie Amaral PhD; Aishwarya Agarwal PhD; Aswathy Chandran PhD; Susana R. Chaves PhD; Juliane Winkelmann MD; Claudia Trenkwalder MD; Maike Schwager MSc; Silke Pauli PhD; Ulf Dettmer PhD; Claudio O. Fernández PhD; Janin Lautenschläger PhD; Markus Zweckstetter PhD; Ruben Fernandez Busnadiego PhD; Brit Mollenhauer MD; Tiago Fleming Outeiro PhD
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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
errMOVEMENT DISORDERS
IF7.6
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
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AOPEP-Related Dystonia with Supranuclear Vertical Gaze PalsyAOPEP相关肌张力障碍伴核上性垂直凝视麻痹
errMovement Disorders Clinical Practice
IF2.7
err2025-06-02
err0
PREAI
errSepehr Khosravi MD; Ali Shoeibi MD; Ariane Sadr-Nabavi PhD; Mohammad Shariati MD; Michael Zech MD; Juliane Winkelmann MD; Anthony E. Lang MD; Mohammad Rohani MD
err分享
err收藏

研究方向

暂时未获取到该数据
合作学者
合作期刊
E
Evan E. Eichler
H 指数: 191 · 论文数: 864
A
Annette Peters
H 指数: 176 · 论文数: 2.4K
C
Christian Gieger
H 指数: 175 · 论文数: 942
T
Thomas Meitinger
H 指数: 168 · 论文数: 957
A
Anthony E. Lang
H 指数: 166 · 论文数: 1.6K
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