List of works - Charlotte L Alston

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.

scientific article published on 19 September 2011

A national perspective on prenatal testing for mitochondrial disease

scientific article

A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism

scientific article published on 25 November 2014

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy

scientific article published on 16 December 2009

A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle.

scientific article

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

scientific article published on 26 May 2015

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

scientific article published on 18 April 2016

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

scientific article

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

scientific article

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease

scientific article published on October 2015

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

scientific article

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

scientific article

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

article

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

scientific article published on 19 September 2017

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

scientific article published on 29 June 2016

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

scientific article published on 10 April 2017

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

scientific article published on 25 April 2016

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

scientific article published on 19 July 2018

Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.

scientific article

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

scientific article

De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities

scientific article published on 22 September 2017

De novo mtDNA point mutations are common and have a low recurrence risk.

scientific article

Decreased male reproductive success in association with mitochondrial dysfunction

scientific article published on 16 August 2017

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

scientific article

Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease.

scientific article published on 03 June 2013

Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation

scientific article

Dysferlin mutations and mitochondrial dysfunction

scientific article (publication date: November 2016)

Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.

scientific article published in February 2013

Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion

scientific article published on 02 June 2020

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

scientific article published on 27 October 2015

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.

scientific article

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

article

Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion

scientific article published on 3 January 2018

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

scientific article published on 24 February 2018

Maternally inherited mitochondrial DNA disease in consanguineous families

scientific article published on 29 June 2011

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

scientific article published on 5 January 2016

Mitochondrial dysfunction in myofibrillar myopathy.

scientific article published on 10 August 2016

Mitochondrial respiratory chain disease in children undergoing cardiac transplantation: a prospective study

scientific article published on 20 December 2011

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease

scientific article published on 01 November 2019

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

scientific article published on 24 October 2013

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

article

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

scientific article published on 18 June 2019

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

scientific article

Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy.

scientific article published in December 2013

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.

scientific article published on July 2015

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

scientific article published on 26 October 2017

Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease

scientific article

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

scientific article published in August 2019

Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions

scientific article published on 19 October 2016

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

scientific article published on 28 March 2015

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

scientific article published on 25 July 2016

Recent Advances in Mitochondrial Disease

scientific article

Recent advances in understanding the molecular genetic basis of mitochondrial disease

scientific article published on 10 May 2019

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

scientific article

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

article

Recessive germlineSDHAandSDHBmutations causing leukodystrophy and isolated mitochondrial complex II deficiency ⬇️

scientific article published on September 1, 2012

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

scientific journal article

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

scientific article published on December 2016

SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.

scientific article

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 ⬇️

scientific journal article

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

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

scientific journal article

The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.

scientific article

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

scientific article published on 13 July 2016

The frequency of the m.1555A>G (MTRNR1) variant in UK patients with suspected mitochondrial deafness

scientific article published on 20 May 2016

The genetics and pathology of mitochondrial disease.

scientific article published on 23 September 2016

The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells

scientific article published on 18 February 2010

The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease.

scientific article published on 27 December 2012

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families ⬇️

scientific article published on September 6, 2010

The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype

scientific article

The urinary proteome and metabonome differ from normal in adults with mitochondrial disease

article

Three families with 'de novo' m.3243A > G mutation

scientific article published on 29 April 2016

Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.

scientific article

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.

scientific article published on 15 November 2017

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

scientific article published in June 2018

List of works by Charlotte L Alston

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.

A national perspective on prenatal testing for mitochondrial disease

A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy

A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle.

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

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

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

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

Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities

De novo mtDNA point mutations are common and have a low recurrence risk.

Decreased male reproductive success in association with mitochondrial dysfunction

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease.

Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation

Dysferlin mutations and mitochondrial dysfunction

Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.

Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.

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

Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion

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

Maternally inherited mitochondrial DNA disease in consanguineous families

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Mitochondrial dysfunction in myofibrillar myopathy.

Mitochondrial respiratory chain disease in children undergoing cardiac transplantation: a prospective study

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy.

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease

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

Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions

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

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

Recent Advances in Mitochondrial Disease

Recent advances in understanding the molecular genetic basis of mitochondrial disease

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Recessive germlineSDHAandSDHBmutations causing leukodystrophy and isolated mitochondrial complex II deficiency ⬇️

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2 ⬇️

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

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

The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.

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

The frequency of the m.1555A>G (MTRNR1) variant in UK patients with suspected mitochondrial deafness

The genetics and pathology of mitochondrial disease.

The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells

The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease.

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families ⬇️

The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype

The urinary proteome and metabonome differ from normal in adults with mitochondrial disease

Three families with 'de novo' m.3243A > G mutation

Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.

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