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Markus Schuelke

freie universität berlin and humboldt universität zu berlin

60H指数
335论文数
2.3W被引数
收录论文 47
发表时间
Single-cell multi-omic analysis of mitochondrial mutational mosaicism and dynamics单细胞多组学分析线粒体突变嵌合体及其动态变化
err2026-03-16
err0
errOAAI
errYu-Hsin Hsieh; Pauline Kautz; Lena Nitsch; Ambre M. Giguelay; Janet Liebold; Veronika Dimitrova; Stephania Contreras Castillo; Freya Jungen; Gabor Zsurka; Genevieve Trombly; Markus Schuelke; Wolfram S. Kunz; Caleb A. Lareau; Leif S. Ludwig
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Loss-of-function variants in SPTAN1 and SPTBN4 cause early-onset hereditary myopathySPTAN1和SPTBN4基因的功能缺失变异导致早发型遗传性肌病
err2025-08-22
err0
PREAI
errJonathan De Winter; Johanna Palmio; Markus Schuelke; Bjarne Udd; Werner Stenzel; Jonathan Baets
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Novel Biallelic SQSTM1 Mutation Causing a Subacute-Onset Complex Movement Disorder with Oculomotor Abnormalities新型双等位基因SQSTM1突变导致一种亚急性起病的伴有眼动异常的复杂运动障碍
err2025-07-29
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errOAAI
errAna Luísa de Almeida Marcelino MD; Nina-Maria Wilpert MD, PhD; Jonas Leubner MD; Felix Boschann MD; Nadja Ehmke MD; Christoph J. Ploner MD; Tina Mainka MD; Markus Schuelke MD; Andrea A. Kühn MD
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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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Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa TreatmentAllan-Herndon-Dudley综合征(MCT8缺乏症)患者儿童期出现帕金森样症状并对左旋多巴/卡比多巴治疗有反应。
err2025-03-15
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errOAAI
errWilpert, Nina-Maria; Hewitt, Angela L.; Henke, Marie-Therese; Bauer, Martin; Grolik, Christiane; Menz, Stephan; Wahle, Monika; Zink, Annika; Prigione, Alessandro; Reinauer, Christina; Lange, Catharina; Furth, Christian; Brockmann, Knut; Jung-Klawitter, Sabine; Christ, Stine; Kaindl, Angela M.; Tietze, Anna; Krude, Heiko; Opladen, Thomas; Schuelke, Markus
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A Novel De Novo Gain-of-Function CACNA1D Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia神经发育障碍伴先天性震颤、癫痫发作和肌张力低下的一种新的从头获得功能CACNA1D变异
err2024-10-01
err3
errOAAI
errDannenberg, Fabian; Von Moers, Arpad; Bittigau, Petra; Lange, Joern; Wiegand, Sylvia; Toeroek, Ferenc; Stoelting, Gabriel; Striessnig, Joerg; Motazacker, M. Mahdi; Broekema, Marjoleine F.; Schuelke, Markus; Kaindl, Angela M.; Scholl, Ute I.; Ortner, Nadine J.
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Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome
err2024-10-01
err1
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errSmits, Daphne J.; Dekker, Jordy; Douben, Hannie; Schot, Rachel; Magee, Helen; Bakhtiari, Somayeh; Koehler, Katrin; Huebner, Angela; Schuelke, Markus; Darvish, Hossein; Vosoogh, Shohreh; Tafakhori, Abbas; Jameie, Melika; Taghiabadi, Ehsan; Wilson, Yana; Shah, Margit; van Slegtenhorst, Marjon A.; Medici-van den Herik, Evita G.; van Ham, Tjakko J.; Kruer, Michael C.; Mancini, Grazia M. S.
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A Mild But Typical Presentation of Bethlem Myopathy With a Novel In-Frame Deletion in COL6A1 Almost Overlooked
err2024-06-11
err1
errOAAI
errWilpert, Nina-Maria; Schuelke, Markus; Lala, Birgit; Weiss, Claudia
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Beyond vacuolar pathology: Multiomic profiling of Danon disease reveals dysfunctional mitochondrial homeostasis
err2023-07-18
err3
errOAAI
errKleefeld, Felix; Hentschel, Andreas; von Moers, Arpad; Hahn, Katrin; Horvath, Rita; Goebel, Hans-Hilmar; Preusse, Corinna; Schallner, Jens; Schuelke, Markus; Roos, Andreas; Stenzel, Werner
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Hodgkin Lymphoma Cell Lines and Tissues Express mGluR5: A Potential Link to Ophelia Syndrome and Paraneoplastic Neurological Disease
errCELLS
IF5.2
err2023-02-13
err2
errOAAI
errSchnell, Sofia; Knierim, Ellen; Bittigau, Petra; Kreye, Jakob; Hauptmann, Kathrin; Hundsdoerfer, Patrick; Morales-Gonzalez, Susanne; Schuelke, Markus; Nikolaus, Marc
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Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle
err2023-01-03
err12
errOAAI
errMorin, Adrien; Stantzou, Amalia; Petrova, Olga N.; Hildyard, John; Tensorer, Thomas; Matouk, Meriem; Petkova, Mina V.; Richard, Isabelle; Manoliu, Tudor; Goyenvalle, Aurelie; Falcone, Sestina; Schuelke, Markus; Laplace-Builhe, Corinne; Piercy, Richard J.; Garcia, Luis; Amthor, Helge
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Morphologic and Molecular Patterns of Polymyositis With Mitochondrial Pathology and Inclusion Body Myositis
err2022-11-15
err19
PREAI
errKleefeld, Felix; Uruha, Akinori; Schanzer, Anne; Nishimura, Anna; Roos, Andreas; Schneider, Udo; Goebel, Hans H.; Schuelke, Markus; Hahn, Katrin; Preusse, Corinna; Stenzel, Werner
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Atypical NMDA receptor expression in a diffuse astrocytoma, MYB- or MYBL1-altered as a trigger for autoimmune encephalitis
err2022-06-21
err5
errOAAI
errNikolaus, Marc; Koch, Arend; Stenzel, Werner; Elezkurtaj, Sefer; Sahm, Felix; Tietze, Anna; Stoeffler, Laura; Kreye, Jakob; Driever, Pablo Hernaiz; Thomale, Ulrich W.; Kaindl, Angela M.; Schuelke, Markus; Knierim, Ellen
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Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease
err2022-03-10
err8
errOAAI
errPanzer, Marlene; Viveiros, Andre; Schaefer, Benedikt; Baumgartner, Nadja; Seppi, Klaus; Djamshidian, Atbin; Todorov, Theodor; Griffiths, William J. H.; Schott, Eckart; Schuelke, Markus; Eurich, Dennis; Stattermayer, Albert Friedrich; Bomford, Adrian; Foskett, Pierre; Vodopiutz, Julia; Stauber, Rudolf; Pertler, Elke; Morell, Bernhard; Tilg, Herbert; Mueller, Thomas; Kiechl, Stefan; Jimenez-Heredia, Raul; Weiss, Karl Heinz; Hahn, Si Houn; Janecke, Andreas; Ferenci, Peter; Zoller, Heinz
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Diagnosis of Taenia solium infections based on mail order RNA-sequencing of single tapeworm egg isolates from stool samples
err2021-12-10
err1
errOAAI
errSadlowski, Henrik; Schmidt, Veronika; Hiss, Jonathan; Kuehn, Johannes A.; Schneider, Christian G.; Zulu, Gideon; Hachangu, Alex; Sikasunge, Chummy S.; Mwape, Kabemba E.; Winkler, Andrea S.; Schuelke, Markus
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Met and Cxcr4 cooperate to protect skeletal muscle stem cells against inflammation-induced damage during regeneration
err2021-08-05
err12
errOAAI
errLahmann, Ines; Griger, Joscha; Chen, Jie-Shin; Zhang, Yao; Schuelke, Markus; Birchmeier, Carmen
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Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages
err2021-05-28
err7
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errKoelbel, Heike; Preusse, Corinna; Brand, Lukas; von Moers, Arpad; Della Marina, Adela; Schuelke, Markus; Roos, Andreas; Goebel, Hans-Hilmar; Schara-Schmidt, Ulrike; Stenzel, Werner
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Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
err2021-05-21
err2
errOAAI
errKleefeld, Felix; von Renesse, Anja; Dittmayer, Carsten; Harms, Lutz; Radke, Josefine; Radbruch, Helena; Goebel, Hans-Hilmar; Pache, Florence; Schneider, Udo; Schuelke, Markus; Uruha, Akinori; Stenzel, Werner
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The MutationTaster2021
err2021-04-24
err0
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errSteinhaus, Robin; Proft, Sebastian; Schuelke, Markus; Cooper, David N.; Schwarz, Jana Marie; Seelow, Dominik
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Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum
err2021-03-26
err12
errOAAI
errBuelow, Markus; Suessmuth, David; Smith, Laurie D.; Aryani, Omid; Castiglioni, Claudia; Stenzel, Werner; Bertini, Enrico; Schuelke, Markus; Knierim, Ellen
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