Lista de obras - Yi Shiau Ng - Dominio Público Uruguay

A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia

artículo científico publicado en 2019

Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction

artículo científico publicado en 2016

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

artículo científico publicado en 2017

Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.

scientific article published on 17 August 2016

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease

artículo científico publicado en 2016

Consensus-based statements for the management of mitochondrial stroke-like episodes

artículo científico publicado en 2019

Decreased male reproductive success in association with mitochondrial dysfunction

artículo científico publicado en 2017

Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.

artículo científico publicado en 2016

Epilepsy in adults with mitochondrial disease: A cohort study.

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Forecasting stroke-like episodes and outcomes in mitochondrial disease

artículo científico publicado en 2021

Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease

scientific article published on 01 June 2019

Leigh syndrome caused by mutations in is associated with a better prognosis

article

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

artículo científico publicado en 2018

Measuring the effects of exercise in neuromuscular disorders: a systematic review and meta-analyses

artículo científico publicado en 2020

Mitochondrial disease: genetics and management

artículo científico publicado en 2015

Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia

artículo científico publicado en 2017

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.

artículo científico publicado en 2016

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study

artículo científico publicado en 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

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

artículo científico publicado en 2015

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

artículo científico publicado en 2016

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

artículo científico publicado en 2016

Reply

scientific article published on 25 July 2016

Solid organ transplantation in primary mitochondrial disease: Proceed with caution.

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Teaching NeuroImages: Neuroradiologic evolution of Leigh disease.

artículo científico publicado en 2016

The Maintenance of Mitochondrial DNA Integrity and Dynamics by Mitochondrial Membranes

artículo científico publicado en 2020

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.

scientific article published on 10 August 2016

The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease

artículo científico publicado en 2018

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

artículo científico publicado en 2016

The diagnosis of posterior reversible encephalopathy syndrome

artículo científico publicado en 2015

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

artículo científico publicado en 2016

When to think about mitochondrial disease

artículo científico publicado en 2020

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

artículo científico publicado en 2018

Lista de obras de Yi Shiau Ng

A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia

Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease

Consensus-based statements for the management of mitochondrial stroke-like episodes

Decreased male reproductive success in association with mitochondrial dysfunction

Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.

Epilepsy in adults with mitochondrial disease: A cohort study.

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

Forecasting stroke-like episodes and outcomes in mitochondrial disease

Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease

Leigh syndrome caused by mutations in is associated with a better prognosis

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

Measuring the effects of exercise in neuromuscular disorders: a systematic review and meta-analyses

Mitochondrial disease: genetics and management

Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study

Pathological mechanisms underlying single large-scale mitochondrial DNA deletions

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

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

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

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Reply

Solid organ transplantation in primary mitochondrial disease: Proceed with caution.

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

Teaching NeuroImages: Neuroradiologic evolution of Leigh disease.

The Maintenance of Mitochondrial DNA Integrity and Dynamics by Mitochondrial Membranes

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.

The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease

The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

The diagnosis of posterior reversible encephalopathy syndrome

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

When to think about mitochondrial disease

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