Lista de obras - Markus Schuelke - Dominio Público Uruguay

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

artículo científico publicado en 2017

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

artículo científico publicado en 2020

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

artículo científico publicado en 2013

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

artículo científico publicado en 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? ⬇️

artículo científico publicado el 17 de abril de 1998

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

artículo científico publicado en 2016

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.

artículo científico publicado en 2016

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

artículo científico publicado en 2012

Cytoplasmic body myopathy revisited

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

artículo científico publicado en 2018

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

artículo científico publicado en 2021

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

artículo científico publicado en 2015

Defining the ATPome reveals cross-optimization of metabolic pathways

artículo científico publicado en 2020

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

artículo científico publicado en 2021

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2020

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

artículo científico publicado en 2012

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

artículo científico publicado en 2008

MutationTaster evaluates disease-causing potential of sequence alterations ⬇️

artículo científico publicado el 1 de agosto de 2010

MutationTaster2021

artículo científico publicado en 2021

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

artículo científico publicado en 2002

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

artículo científico publicado en 2021

Phenotero: Annotate as you write

artículo científico publicado en 2018

Phenotero: annotate as you write

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

artículo científico

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

artículo científico publicado en 2018

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

artículo científico publicado el 27 de abril de 2011

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

artículo científico publicado el 20 de octubre de 2010

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants

artículo científico publicado en 2019

Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 ⬇️

artículo científico publicado el 1 de agosto de 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 ⬇️

artículo científico publicado el 30 de julio de 2010

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

artículo científico publicado en 2018

Lista de obras de Markus Schuelke

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

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.