About: Markus Schuelke

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

researcher

Attributes	Values
rdf:type	Item
description	forskare (sv) researcher (en) 연구원 (ko) 研究者 (ja) wetenschapper (nl) дослідник (uk) эрдэмтэн (mn) वैज्ञानिक (hi) изилдөөчү (ky) 研究者 (zh) հետազոտող (hy)
rdfs:label	Markus Schuelke (en) Markus Schuelke (es) Markus Schuelke (nl) Markus Schuelke (ast)
skos:prefLabel	Markus Schuelke (en) Markus Schuelke (es) Markus Schuelke (nl) Markus Schuelke (ast)
name	Markus Schuelke (en) Markus Schuelke (es) Markus Schuelke (nl) Markus Schuelke (ast)
Scopus author ID	wds:Q56960014-700C21DD-376A-4091-AD85-7DBD8074878D
Scopus author ID	6701679466
given name	wds:Q56960014-41440702-B475-4924-A045-CB403BD6DA81
given name	Markus
instance of	wds:Q56960014-2AB2680F-EB09-4605-AA14-CA98C9CFF1DA
instance of	Homo sapiens
occupation	wds:Q56960014-A4570323-DE7F-43CE-A30A-0BB6100EB826
employer	wds:Q56960014-4B19628E-93E2-466B-8CFF-09C4E47491D8
sex or gender	wds:Q56960014-5c24436d-3920-4b28-aaf6-121d04b97a6e
VIAF ID	wds:Q56960014-26E1EA3C-0729-461F-ABD6-F36663DF2A0D
GND ID	wds:Q56960014-551119bb-4817-4f96-8ef8-6cef9d0ae33a
DBLP author ID	wds:Q56960014-07BECF44-C744-4DEF-BE31-36D3E1255986
IdRef ID	wds:Q56960014-bcf1091f-5050-4155-9b6a-4610684f076d
family name	wds:Q56960014-7BF7AF97-B60C-444C-A51A-F9D25070FC3F
VIAF ID	http://viaf.org/viaf/204398592
GND ID	https://d-nb.info/gnd/123890543
DBLP author ID	https://dblp.org/pid/23/7243.rdf
IdRef ID	http://www.idref.fr/195549473/id
occupation	researcher
employer	Charité
sex or gender	male
VIAF ID	204398592
GND ID	123890543
DBLP author ID	23/7243
IdRef ID	195549473
family name	Schuelke
ORCID iD	wds:Q56960014-FEA315A6-B7E9-4C26-830E-386F679BF2E6
ORCID iD	https://orcid.org/0000-0003-2824-3891
ORCID iD	0000-0003-2824-3891
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q56960014
is author of	EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing Combined effect of AAV-U7-induced dystrophin exon skipping and soluble activin Type IIB receptor in mdx mice Dynamics of myosin degradation in intensive care unit-acquired weakness during severe critical illness Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation. Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway. CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome. Characterization of a Dmd (EGFP) reporter mouse as a tool to investigate dystrophin expression Human iPSC-Derived Neural Progenitors Are an Effective Drug Discovery Model for Neurological mtDNA Disorders. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Transparent Danionella translucida as a genetically tractable vertebrate brain model Publisher Correction: Transparent Danionella translucida as a genetically tractable vertebrate brain model A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. Human muscle-derived CLEC14A-positive cells regenerate muscle independent of PAX7 Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. A spontaneous missense mutation in the chromodomain helicase DNA binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy Extracellular matrix remodelling is associated with muscle force increase in overloaded mouse plantaris muscle Hybrid genome assembly and annotation of Danionella translucida CARbon DIoxide for the treatment of Febrile seizures: rationale, feasibility, and design of the CARDIF-study Diagnosis of Taenia solium infections based on "mail order" RNA-sequencing of single tapeworm egg isolates from stool samples Defining the ATPome reveals cross-optimization of metabolic pathways New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods. Phenotero: annotate as you write Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome Phenotero: Annotate as you write RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants Cytoplasmic body myopathy revisited Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum Live-imaging of revertant and therapeutically restored dystrophin in the DmdEGFP-mdx mouse model for Duchenne muscular dystrophy MutationTaster2021
is author of	wds:Q44166590-A738C867-BCF5-4334-9A67-CAB26B5D20F4 wds:Q48130709-D48A60B8-0BB7-428C-BCD8-867F4745A11D wds:Q57464804-39469271-53D4-46D8-A5D3-230C7CD8C3F4 wds:Q91719891-42C480D6-09DD-4343-8FDD-3BF387685FBD wds:Q93380179-C7EBD13A-103F-4BCB-87C3-F473FB3CEC1D wds:Q98284740-5B4032DB-8BFA-4D64-90A0-C208D3BBBD6E wds:Q38181713-589BDDAE-4304-44FD-A938-3FA4B30A0C49 wds:Q48105723-FFFC7238-14F5-4282-9C42-EDEE5597059B wds:Q51025666-02B8F1D5-B9B5-4543-91AF-EAC9C05A2E19 wds:Q58611524-10D3198D-19C7-4FE7-B16D-44F996395B99

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