List of works - Angela Pyle

A Woman With Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems

scientific article published in December 2016

A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts

scientific article published on 31 January 2019

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

scientific article published on 16 April 2012

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

scientific article published on 19 January 2018

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency

scientific article

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes

scientific article (publication date: May 2014)

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

scientific article

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

scholarly article by Ulrike Schara et al published 10 December 2010 in Journal of Inherited Metabolic Disease

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

scientific article

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

scientific article published on 28 June 2013

Author Correction: Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos

scientific article published on 19 April 2018

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing—Reply

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

scientific article

Cell-free mitochondrial DNA in progressive multiple sclerosis

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

scientific article

Clinical and neuropathological findings in patients with TACO1 mutations

scientific article published on 19 August 2010

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

scientific article

Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB.

scientific article published on April 2015

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

scientific article published in January 2015

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

scientific article published on 22 September 2017

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA

scientific article

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease

scientific article published on 6 March 2018

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation

scientific article published in September 2006

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

scientific article

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy

scientific article

Exome sequencing in undiagnosed inherited and sporadic ataxias

scientific article

Exposure of Monocytic Cells to Lipopolysaccharide Induces Coordinated Endotoxin Tolerance, Mitochondrial Biogenesis, Mitophagy, and Antioxidant Defenses

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans

scientific article published on 14 May 2015

Fall in circulating mononuclear cell mitochondrial DNA content in human sepsis

scientific article

Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very old.

scientific article published on 30 April 2013

Genetic heterogeneity of motor neuropathies

scientific article published on March 2017

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

scientific article published on 3 March 2016

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

scientific article published on 27 April 2017

Increased yield of exome sequencing by off-target mitochondrial DNA analysis

scientific article published on 14 February 2015

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization

scientific article

Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features

scientific article

Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause

article

MFN2 mutations cause compensatory mitochondrial DNA proliferation

scientific article published on 4 April 2012

Mitochondrial DNA depletion induces innate immune dysfunction rescued by IFN-γ.

scientific article published on 16 June 2017

Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD.

scientific article

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

scientific article published on 5 January 2016

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

scientific article published on 8 March 2018

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

scientific article published on 31 August 2009

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

scientific article published on 24 September 2012

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

scientific article

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

scientific article

NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome

scientific article published on 18 November 2012

Non-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cells

scientific article

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

scientific article published on 17 December 2010

OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy

scientific article

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia

scientific article published on 15 December 2017

POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.

scientific article

Phenotypic convergence of Menkes and Wilson disease

scientific article

Phenotypic variability of TRPV4 related neuropathies

scientific article published on 18 March 2015

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing

scientific article published in October 2012

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

scientific article

Reduced cerebrospinal fluid mitochondrial DNA is a biomarker for early-stage Parkinson's disease

scientific article published on 7 September 2015

Reduced mitochondrial DNA copy number is a biomarker of Parkinson's disease

scientific article published on 5 November 2015

Reduced mitochondrial DNA is not a biomarker of depression in Parkinson's disease

scientific article published on 18 October 2016

Reply: Evaluation of exome sequencing variation in undiagnosed ataxias

scientific article published on 4 April 2015

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

scientific article published on 21 November 2013

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

scientific article

SCP2 mutations and neurodegeneration with brain iron accumulation

scientific article

SPG7 mutations are a common cause of undiagnosed ataxia

scientific article

Somatic mtDNA variation is an important component of Parkinson's disease

scientific article published on 6 November 2015

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy

scientific article

The Mitochondrial DNA A3243A>G Mutation Must Be An Infrequent Cause Of Asperger Syndrome

The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

scientific article published on 10 June 2015

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies

scientific article published in July 2014

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering

scientific article published on 10 May 2015

metabolic profiling of Parkinson's disease and mild cognitive impairment

scientific article

List of works by Angela Pyle

A Woman With Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems

A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes

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

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency

Author Correction: Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing—Reply

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

Cell-free mitochondrial DNA in progressive multiple sclerosis

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

Clinical and neuropathological findings in patients with TACO1 mutations

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB.

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

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

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA

Defective mitochondrial protease LonP1 can cause classical mitochondrial disease

Depletion of mitochondrial DNA in leucocytes harbouring the 3243A->G mtDNA mutation

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

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy

Exome sequencing in undiagnosed inherited and sporadic ataxias

Exposure of Monocytic Cells to Lipopolysaccharide Induces Coordinated Endotoxin Tolerance, Mitochondrial Biogenesis, Mitophagy, and Antioxidant Defenses

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans

Fall in circulating mononuclear cell mitochondrial DNA content in human sepsis

Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very old.

Genetic heterogeneity of motor neuropathies

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

Increased yield of exome sequencing by off-target mitochondrial DNA analysis

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization

Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features

Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause

MFN2 mutations cause compensatory mitochondrial DNA proliferation

Mitochondrial DNA depletion induces innate immune dysfunction rescued by IFN-γ.

Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD.

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

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

NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome

Non-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cells

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia

POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.

Phenotypic convergence of Menkes and Wilson disease

Phenotypic variability of TRPV4 related neuropathies

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing

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

Reduced cerebrospinal fluid mitochondrial DNA is a biomarker for early-stage Parkinson's disease

Reduced mitochondrial DNA copy number is a biomarker of Parkinson's disease

Reduced mitochondrial DNA is not a biomarker of depression in Parkinson's disease

Reply: Evaluation of exome sequencing variation in undiagnosed ataxias

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

SCP2 mutations and neurodegeneration with brain iron accumulation

SPG7 mutations are a common cause of undiagnosed ataxia

Somatic mtDNA variation is an important component of Parkinson's disease

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy

The Mitochondrial DNA A3243A>G Mutation Must Be An Infrequent Cause Of Asperger Syndrome

The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering

metabolic profiling of Parkinson's disease and mild cognitive impairment