Markus Schuelke
机构: Professor of Neuropediatrics, Charité University Hospital, Berlin
每年引用次数
引用次数
引用: 25,090
H-指数: 65
I10-指数 : 144
出版物: 271
International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy.
Michelangelo Mancuso , Robert McFarland , Thomas Klopstock , Michio Hirano
Neuromuscular Disorders 27 ( 12) 1126 -1137
28
2017
FV 563. Frequency and Relevance of Neuronal Autoantibodies in Childhood Neurological Disorders
Marc Nikolaus , Angela Kaindl , Markus Schülke , Ellen Knierim
Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics
2018
New evidence for a mutation hotspot in exon 37 of the NF1 gene.
Annett Böddrich , Peter N. Robinson , Markus Schülke , Annegret Buske
Human Mutation 9 ( 4) 374 -377
11
1997
Human muscle-derived CLEC14A-positive cells regenerate muscle independent of PAX7
Andreas Marg , Helena Escobar , Nikos Karaiskos , Stefanie A. Grunwald
Nature Communications 10 ( 1) 5776
5
2019
SURF1 mutations causative of Leigh syndrome impair human neurogenesis
Gizem Inak , Agnieszka Rybak-Wolf , Pawel Lisowski , René Jüttner
bioRxiv 551390
7
2019
RegEl corpus: identifying DNA regulatory elements in the scientific literature
Samuele Garda , Freyda Lenihan-Geels , Sebastian Proft , Stefanie Hochmuth
Database 2022 baac043
1
2022
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings
Axel Schmidt , Magdalena Danyel , Kathrin Grundmann , Theresa Brunet
MedRxiv 2023.04. 19.23288824 -2023.04. 19.23288824
7
2023
LEIGH SYNDROME DRUG DISCOVERY WITH INDUCED NEURONS AND MIDBRAIN ORGANOIDS UNVEILS A REPOSITIONABLE COMPOUND
Carmen Menacho , Satoshi Okawa , Laura Petersilie , Annette Seibt
IBRO Neuroscience Reports 15 S188 -S188
2023
HIGH-THROUGHPUT KNOCKDOWN SCREENING FOR MODIFIERS OF NEURONAL MORPHOLOGY IN LEIGH SYNDROME PATIENT-DERIVED NEURONS
Selene Lickfett , Carmen Menacho , Annika Zink , Markus Schülke
IBRO Neuroscience Reports 15 S184 -S184
2023
Skeletal muscle disorders
Werner Stenzel , Hans-Hilmar Goebel , Markus Schülke , Benedikt Schoser
CRC Press 2025 -2123
Liver transplantation: treatment of choice for hepatic and neurological manifestation of Wilson's disease.
Schuelke M , Neuhaus R , Steinmüller T , Platz Kp
Clinical Transplantation 11 ( 3) 217 -224
50
1997
Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway
Marcello Ziosi , Ivano Di Meo , Giulio Kleiner , Xing‐Huang Gao
EMBO Mol Med.
68
2016
Mitochondriale Erkrankungen
M SCHUELKE
Urban & Fischer A13. 1 -A13. 5
2015
Urinary α-tocopherol metabolites in α-tocopherol transfer protein-deficient patients
Regina Brigelius-Flohé , Barbara Finckh , Alfried Kohlschütter , Markus Schuelke
Journal of Lipid Research 41 ( 10) 1543 -1551
66
2000
The spectrum of WRN mutations in Werner syndrome patients Communicated by Mark Paalman This article is a US government work and, as such, is in the public domain in the United States of America.
Alexander Konstantinow , Markus Schuelke , Uwe Wollina , Carin R. Huizenga
Wiley Subscription Services, Inc., A Wiley Company
2006
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum.
Markus Schuelke , Werner Stenzel , Laurie D. Smith , Enrico Bertini
European Journal of Human Genetics 1 -8
2021
Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome.
Gizem Inak , Agnieszka Rybak-Wolf , Pawel Lisowski , Tancredi M Pentimalli
Nature Communications 12 ( 1) 1929 -1929
46
2021
Inflammation, fibrosis and skeletal muscle regeneration in LGMDR9 are orchestrated by macrophages.
Markus Schuelke , Arpad von Moers , Corinna Preuße , Corinna Preuße
Neuropathology and Applied Neurobiology
2021
A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2.
Heike Biebermann , Heiko Krude , Markus Schuelke , Rachel Straussberg
International Journal of Molecular Sciences 22 ( 10) 5338
2021
Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason.
Markus Schuelke , Lutz Harms , Werner Stenzel , Florence Pache
Neuropathology and Applied Neurobiology
2021