Lista de obras - John Grady - Dominio Público Uruguay

A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis.

artículo científico publicado en 2015

Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle

artículo científico publicado en 2014

Age-dependent homeostatic plasticity of GABAergic signaling in developing retinal networks

artículo científico publicado en 2011

Chromosome arm aneuploidies shape tumour evolution and drug response

scientific article published on 23 January 2020

Comparison of mitochondrial mutation spectra in ageing human colonic epithelium and disease: absence of evidence for purifying selection in somatic mitochondrial DNA point mutations

artículo científico publicado en 2012

Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis.

artículo científico publicado en 2016

Cutting edge genomics reveal new insights into tumour development, disease progression and therapeutic impacts in multiple myeloma.

artículo científico publicado en 2017

Decreased male reproductive success in association with mitochondrial dysfunction

artículo científico publicado en 2017

Development and validation of a targeted gene sequencing panel for application to disparate cancers

artículo científico publicado en 2019

Disease progression in patients with single, large-scale mitochondrial DNA deletions

artículo científico publicado en 2013

Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study

artículo científico publicado en 2018

Dysferlin mutations and mitochondrial dysfunction

artículo científico publicado en 2016

Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease.

artículo científico publicado en 2015

Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases.

artículo científico publicado en 2019

Graphical user interface for simultaneous profiling of activity patterns in multiple neuronal subclasses

artículo científico publicado en 2018

Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations

scientific article published on 05 November 2018

Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease

artículo científico publicado en 2015

Mitochondrial and inflammatory changes in sporadic inclusion body myositis

artículo científico publicado en 2015

Mitochondrial donation--how many women could benefit?

artículo científico publicado en 2015

Mitochondrial dysfunction in myofibrillar myopathy.

artículo científico publicado en 2016

Mitochondrial dysfunction within the synapses of substantia nigra neurons in Parkinson's disease.

artículo científico publicado en 2018

PTEN deletion drives acute myeloid leukemia resistance to MEK inhibitors

scientific article published on 08 October 2019

Pathological mechanisms underlying single large-scale mitochondrial DNA deletions

artículo científico publicado en 2018

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.

artículo científico publicado en 2018

Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.

artículo científico publicado en 2016

Respiratory chain deficiency in aged spinal motor neurons.

artículo científico publicado en 2014

Simultaneous profiling of activity patterns in multiple neuronal subclasses.

artículo científico publicado en 2018

Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study.

artículo científico publicado en 2018

Spatial frequency bandwidth of surround suppression tuning curves.

artículo científico publicado en 2012

Subclonal evolution in disease progression from MGUS/SMM to multiple myeloma is characterised by clonal stability

artículo científico publicado en 2018

Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults

artículo científico publicado en 2015

Translocation Breakpoints Preferentially Occur in Euchromatin and Acrocentric Chromosomes

artículo científico publicado en 2018

Triplex real-time PCR--an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells

artículo científico publicado en 2015

Unique quadruple immunofluorescence assay demonstrates mitochondrial respiratory chain dysfunction in osteoblasts of aged and PolgA(-/-) mice

artículo científico publicado en 2016

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.

artículo científico publicado en 2018

Lista de obras de John Grady

A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis.

Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle

Age-dependent homeostatic plasticity of GABAergic signaling in developing retinal networks

Chromosome arm aneuploidies shape tumour evolution and drug response

Comparison of mitochondrial mutation spectra in ageing human colonic epithelium and disease: absence of evidence for purifying selection in somatic mitochondrial DNA point mutations

Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis.

Cutting edge genomics reveal new insights into tumour development, disease progression and therapeutic impacts in multiple myeloma.

Decreased male reproductive success in association with mitochondrial dysfunction

Development and validation of a targeted gene sequencing panel for application to disparate cancers

Disease progression in patients with single, large-scale mitochondrial DNA deletions

Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study

Dysferlin mutations and mitochondrial dysfunction

Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease.

Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases.

Graphical user interface for simultaneous profiling of activity patterns in multiple neuronal subclasses

Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations

Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease

Mitochondrial and inflammatory changes in sporadic inclusion body myositis

Mitochondrial donation--how many women could benefit?

Mitochondrial dysfunction in myofibrillar myopathy.

Mitochondrial dysfunction within the synapses of substantia nigra neurons in Parkinson's disease.

PTEN deletion drives acute myeloid leukemia resistance to MEK inhibitors

Pathological mechanisms underlying single large-scale mitochondrial DNA deletions

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.

Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.

Respiratory chain deficiency in aged spinal motor neurons.

Simultaneous profiling of activity patterns in multiple neuronal subclasses.

Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study.

Spatial frequency bandwidth of surround suppression tuning curves.

Subclonal evolution in disease progression from MGUS/SMM to multiple myeloma is characterised by clonal stability

Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults

Translocation Breakpoints Preferentially Occur in Euchromatin and Acrocentric Chromosomes

Triplex real-time PCR--an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells

Unique quadruple immunofluorescence assay demonstrates mitochondrial respiratory chain dysfunction in osteoblasts of aged and PolgA(-/-) mice

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.