List of works - Yi Shiau Ng

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

scientific article published on 28 March 2015

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.

scientific article published on 10 August 2016

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

scientific article published in June 2018

Epilepsy in adults with mitochondrial disease: A cohort study.

scientific article published on 18 September 2015

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

scientific article published on 18 March 2015

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

scientific article published on 7 February 2018

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

scientific article published on 25 April 2016

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

scientific article published on 20 April 2016

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

scientific article published on 10 April 2017

Mitochondrial disease: genetics and management

scientific article

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

scientific article

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

scientific article published on 13 July 2016

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

scientific article published on 24 February 2018

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

scientific article published on 17 July 2015

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

scientific article published on 22 April 2016

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

scientific article published on 25 July 2016

Pathological mechanisms underlying single large-scale mitochondrial DNA deletions

scientific article

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

scientific article published on 25 March 2016

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

scientific article published on 13 September 2016

Decreased male reproductive success in association with mitochondrial dysfunction

scientific article published on 16 August 2017

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

scientific article published on 13 December 2019

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

scientific article published on 23 June 2016

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

scientific article published on 01 June 2019

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

scientific article

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

article

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

scientific article published on 17 August 2016

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

scientific article published on 04 June 2019

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

scientific article

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

scientific article published in August 2019

The diagnosis of posterior reversible encephalopathy syndrome

scientific article published on 01 November 2015

The Maintenance of Mitochondrial DNA Integrity and Dynamics by Mitochondrial Membranes

scientific article published on 26 August 2020

Forecasting stroke-like episodes and outcomes in mitochondrial disease

scientific article published in 2021

Reply

scientific article published on 25 July 2016

Teaching NeuroImages: Neuroradiologic evolution of Leigh disease.

scientific article published on October 2016

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

scientific article published on 04 May 2020

When to think about mitochondrial disease

scientific article published on 17 July 2020

List of works by Yi Shiau Ng

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

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.

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

Epilepsy in adults with mitochondrial disease: A cohort study.

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

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

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

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

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

Mitochondrial disease: genetics and management

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

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

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

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

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

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

Pathological mechanisms underlying single large-scale mitochondrial DNA deletions

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

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

Decreased male reproductive success in association with mitochondrial dysfunction

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

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

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

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

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

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

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

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

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

The diagnosis of posterior reversible encephalopathy syndrome

The Maintenance of Mitochondrial DNA Integrity and Dynamics by Mitochondrial Membranes

Forecasting stroke-like episodes and outcomes in mitochondrial disease

Reply

Teaching NeuroImages: Neuroradiologic evolution of Leigh disease.

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

When to think about mitochondrial disease