List of works - Markus Schuelke

A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy ⬇️

scientific article published on March 25, 2013

A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness

scientific article

A spontaneous missense mutation in the chromodomain helicase DNA binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome

scientific article published on 08 April 2020

CARbon DIoxide for the treatment of Febrile seizures: rationale, feasibility, and design of the CARDIF-study

scientific article published on 27 June 2013

Characterization of a Dmd (EGFP) reporter mouse as a tool to investigate dystrophin expression

scientific article published on 05 July 2016

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

scientific article published on 19 July 2018

Cloning of the Human Mitochondrial 51 kDa Subunit (NDUFV1) Reveals a 100% Antisense Homology of Its 3′UTR with the 5′UTR of the γ-Interferon Inducible Protein (IP-30) Precursor: Is This a Link between Mitochondrial Myopathy and Inflammation? ⬇️

scientific article published on April 17, 1998

CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome.

scientific article

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.

scientific article

Combined effect of AAV-U7-induced dystrophin exon skipping and soluble activin Type IIB receptor in mdx mice

scientific article published on 24 September 2012

Cytoplasmic body myopathy revisited

De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy

scientific article published on 28 November 2018

Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome

scientific article published on 26 March 2021

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

scientific article

Defining the ATPome reveals cross-optimization of metabolic pathways

scientific article published on 28 August 2020

Diagnosis of Taenia solium infections based on "mail order" RNA-sequencing of single tapeworm egg isolates from stool samples

scientific article published on 10 December 2021

Dynamics of myosin degradation in intensive care unit-acquired weakness during severe critical illness

scientific article published on 15 February 2014

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

scientific article

Extracellular matrix remodelling is associated with muscle force increase in overloaded mouse plantaris muscle

scientific article published on 09 August 2020

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

scientific article published in February 2006

Human iPSC-Derived Neural Progenitors Are an Effective Drug Discovery Model for Neurological mtDNA Disorders

scientific article published on 25 January 2017

Human muscle-derived CLEC14A-positive cells regenerate muscle independent of PAX7

scientific article published on 18 December 2019

Hybrid genome assembly and annotation of Danionella translucida

scientific article published on 26 August 2019

Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects

scientific article published on 2 August 2016

Live-imaging of revertant and therapeutically restored dystrophin in the DmdEGFP-mdx mouse model for Duchenne muscular dystrophy

scientific article published on 23 June 2020

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

scientific article

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

scientific article

MutationTaster evaluates disease-causing potential of sequence alterations ⬇️

scientific article (publication date: August 2010)

MutationTaster2021

scientific article published on 01 April 2021

New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods.

scientific article published in May 2002

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum

scientific article published on 26 March 2021

Phenotero: Annotate as you write

scientific article published on 07 December 2018

Phenotero: annotate as you write

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

scientific article published on 25 December 2013

Publisher Correction: Transparent Danionella translucida as a genetically tractable vertebrate brain model

scientific article published on 01 December 2018

Quantitative and qualitative 2D electrophoretic analysis of differentially expressed mitochondrial proteins from five mouse organs ⬇️

scientific article published on December 18, 2012

Region-Specific Expression of Mitochondrial Complex I Genes during Murine Brain Development ⬇️

scientific article published on April 27, 2011

Regionalized Pathology Correlates with Augmentation of mtDNA Copy Numbers in a Patient with Myoclonic Epilepsy with Ragged-Red Fibers (MERRF-Syndrome) ⬇️

scientific article published on October 20, 2010

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants

scientific article published on 01 July 2019

Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 ⬇️

scientific article published on August 1, 1998

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

scientific journal article

Transparent Danionella translucida as a genetically tractable vertebrate brain model

article

Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects ⬇️

scientific article published on July 30, 2010

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

scientific article published in May 2018

List of works by Markus Schuelke

A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy ⬇️

A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness

A spontaneous missense mutation in the chromodomain helicase DNA binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome

CARbon DIoxide for the treatment of Febrile seizures: rationale, feasibility, and design of the CARDIF-study

Characterization of a Dmd (EGFP) reporter mouse as a tool to investigate dystrophin expression

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Cloning of the Human Mitochondrial 51 kDa Subunit (NDUFV1) Reveals a 100% Antisense Homology of Its 3′UTR with the 5′UTR of the γ-Interferon Inducible Protein (IP-30) Precursor: Is This a Link between Mitochondrial Myopathy and Inflammation? ⬇️

CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome.

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.

Combined effect of AAV-U7-induced dystrophin exon skipping and soluble activin Type IIB receptor in mdx mice

Cytoplasmic body myopathy revisited

De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy

Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

Defining the ATPome reveals cross-optimization of metabolic pathways

Diagnosis of Taenia solium infections based on "mail order" RNA-sequencing of single tapeworm egg isolates from stool samples

Dynamics of myosin degradation in intensive care unit-acquired weakness during severe critical illness

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Extracellular matrix remodelling is associated with muscle force increase in overloaded mouse plantaris muscle

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

Human iPSC-Derived Neural Progenitors Are an Effective Drug Discovery Model for Neurological mtDNA Disorders

Human muscle-derived CLEC14A-positive cells regenerate muscle independent of PAX7

Hybrid genome assembly and annotation of Danionella translucida

Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects

Live-imaging of revertant and therapeutically restored dystrophin in the DmdEGFP-mdx mouse model for Duchenne muscular dystrophy

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.

MutationTaster evaluates disease-causing potential of sequence alterations ⬇️

MutationTaster2021

New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods.

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum

Phenotero: Annotate as you write

Phenotero: annotate as you write

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

Publisher Correction: Transparent Danionella translucida as a genetically tractable vertebrate brain model

Quantitative and qualitative 2D electrophoretic analysis of differentially expressed mitochondrial proteins from five mouse organs ⬇️

Region-Specific Expression of Mitochondrial Complex I Genes during Murine Brain Development ⬇️

Regionalized Pathology Correlates with Augmentation of mtDNA Copy Numbers in a Patient with Myoclonic Epilepsy with Ragged-Red Fibers (MERRF-Syndrome) ⬇️

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants

Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 ⬇️

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

Transparent Danionella translucida as a genetically tractable vertebrate brain model

Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects ⬇️

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy