List of works by Patrick F. Chinnery

116th ENMC international workshop: the treatment of mitochondrial disorders, 14th-16th March 2003, Naarden, The Netherlands.

scientific article published on November 2003

155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands

scientific article published on 21 December 2007

197th ENMC international workshop: Neuromuscular disorders of mitochondrial fusion and fission - OPA1 and MFN2 molecular mechanisms and therapeutic strategies: 26-28 April 2013, Naarden, The Netherlands

A Unique Gene Regulatory Network Resets the Human Germline Epigenome for Development

scientific article

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

scientific article published in December 2016

A common UCP2 polymorphism predisposes to stress hyperglycaemia in severe sepsis

scientific article

A compositional segmentation of the human mitochondrial genome is related to heterogeneities in the guanine mutation rate.

scientific article

A critical analysis of the combined usage of protein localization prediction methods: Increasing the number of independent data sets can reduce the accuracy of predicted mitochondrial localization

scientific article

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy

scientific article

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

scientific article published on 31 January 2019

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

scientific article published on 12 August 2020

A high frequency of mtDNA polymorphisms in HeLa cell sublines

scientific article published in April 2002

A methodological approach to tracing cell lineage in human epithelial tissues

scientific article published on June 2009

A model of the nuclear control of mitochondrial DNA replication.

scientific article

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

scientific article published on June 2013

A multiple sclerosis-like disorder in patients withOPA1mutations

scientific article (publication date: 19 July 2016)

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure

scientific article published on 11 December 2013

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

scientific article published on 16 April 2012

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

article by Sven J. van der Lee et al published 27 May 2019 in Acta Neuropathologica

A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia

scientific article published on 28 January 2005

A novel FTL insertion causing neuroferritinopathy

A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci

scientific article published on 01 April 2001

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 mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

scientific article published on 19 January 2018

A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis

scientific article published on 01 February 1998

A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia

scientific article published on 01 October 1997

A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis

scientific article published on 01 March 1997

A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis

scientific article

A polymorphism at codon 31 of gene p21 is not associated with primary open angle glaucoma in Caucasians.

scientific article

A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy

scientific article

A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes

scientific article

AMACR mutations cause late-onset autosomal recessive cerebellar ataxia

scientific article published on May 2011

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency

scientific article

Abnormal cardiac energetics in patients carrying the A3243G mtDNA mutation measured in vivo using phosphorus MR spectroscopy

scientific article published in July 2004

Abnormal growth in mitochondrial disease

scientific article published on 18 December 2008

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

scientific article (publication date: May 2014)

Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?

scientific article published on 01 October 2002

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

scientific article

Aciclovir induced posterior leucoencephalopathy

scientific article published in September 2005

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 Mendelian PEO Associated with Mitochondrial Disease

scientific article published on January 2014

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

scientific article

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

Age-related decline in mitochondrial DNA copy number in isolated human pancreatic islets.

scientific article published on 5 June 2008

Age-related mitochondrial DNA depletion and the impact on pancreatic Beta cell function

scientific article

Allelic variation of a functional polymorphism in the serotonin transporter gene and depression in Parkinson's disease

scientific article published on 3 February 2006

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

scientific article published on 10 August 2015

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

scientific article published on 28 June 2013

Amyloid-β accumulation in the CNS in human growth hormone recipients in the UK.

scientific article published on 27 March 2017

An investigation of mitochondrial haplogroups in autism

scientific article

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy

scientific article

An under-recognised cause of spastic paraparesis in middle-aged women

scientific article

An unusual gait following the discovery of a new disease

Analysis of European mtDNAs for recombination

scientific article

Analysis of mitochondrial DNA mutations : point mutations

scientific article

Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations

scientific article

Apolipoprotein E promoter polymorphisms do not have a major influence on the risk of developing primary open angle glaucoma.

scientific article published on 28 October 2004

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution

Assessment of visual function in chronic progressive external ophthalmoplegia

scientific article

Associating mitochondrial DNA variation with complex traits

scientific article published on February 2007

Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

scientific article published on 22 July 2020

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

Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.

scientific article

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

scientific article published on 12 July 2020

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

scientific 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

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

scientific article published on 25 March 2016

CSF antigliadin antibodies and the Ramsay Hunt syndrome

scientific article

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

scientific article published on 12 May 2009

Can mitochondrial DNA mutations cause sperm dysfunction?

scientific article published on 01 August 2002

Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study

scientific article published on 10 August 2016

Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load

scientific article

Cell reprogramming shapes the mitochondrial DNA landscape

scientific article published on 02 September 2021

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

scientific article published on 01 February 2020

Changes in the human mitochondrial genome after treatment of malignant disease.

scientific article published in April 2003

Characterizing mild cognitive impairment in incident Parkinson disease: the ICICLE-PD study

scientific article published on 20 December 2013

Charcot–Marie–Tooth disease in Northern England: Figure 1

article

Childhood presentation of “adult” polyglucosan body disease

scientific article published on 01 February 2013

Childhood-onset Leber hereditary optic neuropathy

scientific article

Chronic pain is common in mitochondrial disease

scientific article published on 29 February 2020

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

scientific article

Clinical and pathological features of mitochondrial DNA deletion disease following antiretroviral treatment

scientific article published on May 2015

Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia

scientific article published on October 2007

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

scientific article

Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation

scientific article published on 14 October 2008

Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation

scientific article published on 2 December 2006

Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations

scientific article

Clinical features of hereditary spastic paraplegia due to spastin mutation

scientific article published on 01 July 2006

Clinical features, investigation, and management of patients with defects of mitochondrial DNA.

scientific article published on November 1997

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

scientific article published on April 2015

Clinical mitochondrial genetics

scientific article

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

scientific article

Clinical progression of mitochondrial myopathy is associated with the random accumulation of cytochrome c oxidase negative skeletal muscle fibres

scientific article published on 01 July 2003

Clinical reasoning: a 39-year-old man with abdominal cramps.

scientific article

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

scientific article published on 25 April 2016

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

scientific article

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

scientific article published in January 2015

Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma

scientific article

Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree

scientific article published on 03 November 2004

Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers.

scientific article published on 4 November 2012

Connections of the IMHV in the domestic chick Gallus domesticus.

scientific article published in June 1990

Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

scientific article published on 18 January 2020

Correction: Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations.

scientific article

Cracking the enigma of mitochondrial-DNA variants and cancer

scientific article published on 01 March 2020

Current concepts and controversies in neurodegeneration with brain iron accumulation

scientific article published in June 2012

Cytochrome c oxidase deficient muscle fibres: substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy.

scientific article

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

scientific article published on 22 September 2017

De-fusing mitochondria defuses the mtDNA time-bomb

scientific article published on 01 October 2019

Deep resequencing of mitochondrial DNA

scientific article published on 01 January 2015

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

scientific article

Defining neurogenetic phenotypes (or how to compare needles in haystacks).

scientific article published on 15 February 2010

Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome

scientific article published in July 2002

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

scientific article published in September 2006

Detecting new neurodegenerative disease genes: does phenotype accuracy limit the horizon?

scientific article published on 12 October 2009

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

scientific article published on July 2002

Diagnosis and treatment of mitochondrial myopathies

scientific article published on 25 August 2011

Diagnosis of 'possible' mitochondrial disease: an existential crisis

scientific article published on 25 January 2019

Diagnosis of muscle diseases presenting with early respiratory failure

scientific article

Diagnostic utility of metabolic exercise testing in a patient with cardiovascular disease

scientific article

Dilated cardiomyopathy, sudden cardiac death, hypoplastic discs, and retinal detachment: a new autosomal dominant syndrome

scientific article published in March 2002

Disorders of the optic nerve in mitochondrial cytopathies: new ideas on pathogenesis and therapeutic targets

scientific article published in June 2012

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

scientific article

Dissociation of duration-based and beat-based auditory timing in cerebellar degeneration

scientific article

Distinct critical cerebellar subregions for components of verbal working memory

scientific article

Disturbed mitochondrial dynamics and neurodegenerative disorders

scientific article published on 09 December 2014

Does mitochondrial DNA predispose to neuromyelitis optica (Devic's disease)?

scientific article published on 29 October 2007

Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates.

scientific article published in August 2013

Dramatic response of facial stereotype/tic to tetrabenazine in the first reported cases of neuroferritinopathy in the United States

scientific article published on October 2010

Dysfunctional mitochondrial maintenance: what breaks the circle of life?

scientific article published on 23 January 2012

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

scientific article

Early neuropsychiatry features in neuroferritinopathy

scientific article published on 23 February 2013

Effects of thyroid hormone on mitochondria and metabolism of human preimplantation embryos

scientific article published on 26 December 2019

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

scientific article

Elevated serum fibroblast growth factor 21 levels correlate with immune recovery but not mitochondrial dysfunction in HIV infection

scientific article

Emerging therapies for mitochondrial disorders

scientific article published on 03 May 2016

Enhanced reticulospinal output in patients with (REEP1) hereditary spastic paraplegia type 31.

scientific article published on 13 November 2013

Epidemiology and treatment of mitochondrial disorders

scientific article

Epigenetics, epidemiology and mitochondrial DNA diseases.

scientific article published on 28 January 2012

Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation

scientific article published in December 2007

Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

scientific article

Erratum to: The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia

scientific article published on 2 February 2016

Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome

scientific article published in December 1999

Evolutionary diversification of mitochondrial proteomes: implications for human disease.

scientific article

Existing and emerging mitochondrial-targeting therapies for altering Parkinson's disease severity and progression

scientific article published on 31 August 2012

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

scientific article published on 01 June 2021

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

scientific article

Exome sequencing in undiagnosed inherited and sporadic ataxias

scientific article

Exome sequencing: how to understand it.

scientific article published on June 2013

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

Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia

scientific article

Extraocular muscles have fundamentally distinct properties that make them selectively vulnerable to certain disorders

scientific article

Extreme heterogeneity of human mitochondrial DNA from organelles to populations

scientific article published on 28 September 2020

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

scientific article published on 14 May 2015

Eye movement recordings to investigate a supranuclear component in chronic progressive external ophthalmoplegia: a cross-sectional study

scientific article

Fall in circulating mononuclear cell mitochondrial DNA content in human sepsis

scientific article

Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.

scientific article published in April 2004

First-line genomic diagnosis of mitochondrial disorders

scientific article published on 01 July 2018

Fragile X premutation presenting as essential tremor

scientific article published in October 2008

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

scientific article published on 30 April 2013

Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy

scientific article

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia

scientific article

Fulminant encephalopathy due to the catastrophic primary antiphospholipid syndrome

scientific article

Gait impairment precedes clinical symptoms in spinocerebellar ataxia type 6.

scientific article

Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome

scientific article

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

scientific article published on 21 December 2016

Genetic counseling and prenatal diagnosis for mtDNA disease

scientific article published in December 1998

Genetic heterogeneity of motor neuropathies

scientific article published on March 2017

Genetic impact on cognition and brain function in newly diagnosed Parkinson's disease: ICICLE-PD study

scientific article

Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy.

scientific article published on May 2009

Genetic variation of CHRNA4 does not modulate attention in Parkinson's disease

scientific article

Genetic variations within the OPA1 gene are not associated with neuromyelitis optica

scientific article

Genetics in reverse.

scientific article published in January 2004

Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy.

scientific article

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland

scientific article

Genotypes from patients indicate no paternal mitochondrial DNA contribution

scientific article published on 01 October 2003

Germline selection shapes human mitochondrial DNA diversity

scientific article published on 23 May 2019

Glucocerebrosidase mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease

scientific article

HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development

scientific article published on 26 October 2016

HIV treatment and associated mitochondrial pathology: review of 25 years of in vitro, animal, and human studies

scientific article published on 25 September 2013

Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study

scientific article

Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: The GenePD Study

article

Hereditary Myopathy with Early Respiratory Failure

scientific article published on 28 February 2014

Hereditary mtDNA heteroplasmy: a baseline for aging?

scientific article published in October 2013

Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family

scientific article published on 22 November 2017

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

scientific article published on 01 May 2022

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

scientific article published on 3 March 2016

How can we treat mitochondrial encephalomyopathies? Approaches to therapy

scientific article published on October 2008

How to spot mitochondrial disease in adults.

scientific article published on February 2013

Human liver stem cells originate from the canals of Hering

scientific article published on 01 September 2009

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study

scientific article

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

scientific article published on 27 April 2017

Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

scientific article published on 15 September 2020

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance

scientific article published on 14 November 2019

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

scientific article

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes

scientific article published on 16 February 2009

In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion

scientific article published on 3 May 2012

In vivo mitochondrial function in HIV-infected persons treated with contemporary anti-retroviral therapy: a magnetic resonance spectroscopy study

scientific article published on 7 January 2014

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

scientific article published on 03 December 2008

In-vitro genetic modification of mitochondrial function

scientific article

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

scientific article published on 14 February 2015

Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study

scientific article published on June 2006

Inheritance of mitochondrial DNA in humans: implications for rare and common diseases

scientific article published on 18 March 2020

Inheritance of mitochondrial disorders

scientific article

Inherited mitochondrial optic neuropathies

scientific article

Inherited mtDNA variations are not strong risk factors in human prion disease

scientific article published on 10 July 2015

Investigation of auditory dysfunction in Leber hereditary optic neuropathy

scientific article published in September 2008

Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility

scientific article

Is selection required for the accumulation of somatic mitochondrial DNA mutations in post-mitotic cells?

scientific article

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

scientific article published in July 2010

LRRK2 exonic variants and risk of multiple system atrophy

scientific article

Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations

scientific article published on 10 February 2016

Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution

scientific article published on 17 September 2011

Late-onset axial jerky dystonia due to the DYT1 deletion

scientific article published on 01 January 2002

Late-onset mitochondrial disorder with electromyographic evidence of myotonia

article

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

scientific article

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

scientific article

Leber Hereditary Optic Neuropathy

scientific article

Leber Hereditary Optic Neuropathy - Therapeutic Challenges and Early Promise

scientific article

Leber hereditary optic neuropathy

scientific article

Leber hereditary optic neuropathy

scientific article published on 01 July 2008

Leber hereditary optic neuropathy presenting in a 75-year-old man

scientific article published on 01 June 2008

Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?

scientific article

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

scientific article

Limbic encephalitis: Not a picture to forget

scientific article published on March 2004

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

article

Local circuitry in the IMHV of the domestic chick (Gallus domesticus).

scientific article published in June 1990

Locating the stem cell niche and tracing hepatocyte lineages in human liver

scientific article

Long-term improvement under deferiprone in a case of neurodegeneration with brain iron accumulation

scientific article published on 6 August 2011

Lord Walton of Detchant: There and Back Again

scientific article published on July 2015

Lower limb radiology of distal myopathy due to the S60F myotilin mutation

scientific article published on 03 July 2009

MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring

scientific article published in October 1998

MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA

article

MFN2 mutations cause compensatory mitochondrial DNA proliferation

scientific article published on 4 April 2012

MRI for the demonstration of subclinical muscle involvement in muscular dystrophy

scientific article published on 01 February 2007

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease

scientific article published on 26 February 2016

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

scientific article published on 24 February 2018

Mammalian mitochondrial genetics: heredity, heteroplasmy and disease

scientific article published on November 1997

Management of parkinsonism and psychotic depression in a case of acute intermittent porphyria

scientific article published on May 1997

Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population

scientific article published on 01 June 1997

Metabolic effects of bezafibrate in mitochondrial disease

scientific article published on 28 February 2020

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

scientific article published on 31 October 2020

Minimum prevalence of spinocerebellar ataxia 17 in the north east of England

scientific article

MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases

scientific article published on 18 August 2021

Mitochondria

scientific article

Mitochondria and Hypoxia: Metabolic Crosstalk in Cell-Fate Decisions

scientific article published on 28 February 2018

Mitochondria and cortical gamma oscillations: food for thought?

scientific article published on 01 February 2011

Mitochondria in neuroinflammation - Multiple sclerosis (MS), leber hereditary optic neuropathy (LHON) and LHON-MS.

scientific article published on 28 June 2017

Mitochondrial Causes of Epilepsy: Evaluation, Diagnosis, and Treatment

scientific article published on 10 June 2015

Mitochondrial DNA Heteroplasmy and Purifying Selection in the Mammalian Female Germ Line

scientific article published on 24 January 2018

Mitochondrial DNA Mutations in Individuals Occupationally Exposed to Ionizing Radiation

scientific article published in February 2006

Mitochondrial DNA analysis: polymorphisms and pathogenicity

scientific article

Mitochondrial DNA and disease

scientific article (publication date: July 1999)

Mitochondrial DNA and disease

scientific article published on 01 July 1998

Mitochondrial DNA and survival after sepsis: a prospective study

scientific article published on 01 December 2005

Mitochondrial DNA and traumatic brain injury

scientific article

Mitochondrial DNA copy number threshold in mtDNA depletion myopathy

scientific article published in August 2005

Mitochondrial DNA deletion in "identical" twin brothers

scientific article

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

scientific article published on 16 June 2017

Mitochondrial DNA disease masquerading as age-related mascular degeneration

scientific article published on 01 August 1999

Mitochondrial DNA does not contribute to the heritability of non-alcoholic fatty liver disease

scientific article published on 01 October 2010

Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD.

scientific article

Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees

scientific article published in April 2004

Mitochondrial DNA haplogroups and amyotrophic lateral sclerosis

scientific article published on 03 November 2006

Mitochondrial DNA haplogroups and risk of transient ischaemic attack and ischaemic stroke: a genetic association study

scientific article

Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies.

scientific article published in July 2000

Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls

scientific article

Mitochondrial DNA heteroplasmy is modulated during oocyte development propagating mutation transmission

scientific article published on 08 December 2021

Mitochondrial DNA mutations and pathogenicity

scientific article

Mitochondrial DNA mutations in ageing and disease: implications for HIV?

scientific article published on 17 July 2014

Mitochondrial DNA mutations in human colonic crypt stem cells

scientific article published on November 2003

Mitochondrial DNA mutations in neurodegeneration

scientific article published on 23 May 2015

Mitochondrial DNA mutations in the pathogenesis of human disease

scientific article

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

scientific article published on 02 February 2017

Mitochondrial DNA polymerase-gamma and human disease

scientific article

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

scientific article published on 5 January 2016

Mitochondrial Diseases: A Diagnostic Revolution

scientific article published on 13 July 2020

Mitochondrial Disorders Overview

scientific article published on 14 August 2014

Mitochondrial Haplogroup and the Risk of Acute Kidney Injury Following Cardiac Bypass Surgery

Mitochondrial Matchmaking.

scientific article

Mitochondrial Replacement in the Clinic

scientific article published on 01 May 2020

Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations

scientific article published on 26 June 2011

Mitochondrial diabetes: investigation and identification of a novel mutation

scientific article published on 01 November 1998

Mitochondrial disease in adults: a scale to monitor progression and treatment

scientific article published on 01 June 2006

Mitochondrial disease in adults: what's old and what's new?

scientific article

Mitochondrial disease: mimics and chameleons

scientific article published on 22 July 2015

Mitochondrial diseases

Mitochondrial disorders come full circle

scientific article published on 01 October 2003

Mitochondrial dysfunction in aging: Much progress but many unresolved questions

scientific article

Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract

scientific article

Mitochondrial genetics

scientific article

Mitochondrial genotype and clinical phenotype

scientific article published on 01 June 1998

Mitochondrial hepatopathies

scientific article published on 01 August 2005

Mitochondrial heteroplasmy beyond the oocyte bottleneck

scientific article published on 11 October 2019

Mitochondrial medicine

scientific article published on 01 November 1997

Mitochondrial myopathies: developments in treatment

scientific article published on October 2010

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies

scientific article

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

scientific article published on 8 March 2018

Mitochondrial pathology in progressive cerebellar ataxia

scientific article

Mitochondrially-targeted APOBEC1 is a potent mtDNA mutator affecting mitochondrial function and organismal fitness in Drosophila

scientific article published on 23 July 2019

Modifying Mitochondrial tRNAs: Delivering What the Cell Needs

scientific article published on 01 March 2015

Modulating heteroplasmy

scientific article published on 01 April 2002

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

scientific article published on 31 August 2009

Molecular epidemiology of spinocerebellar ataxia type 6

scientific article published on 01 May 2004

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

scientific article published on 01 November 2019

Molecular pathogenesis of polymerase γ-related neurodegeneration

scientific article published on 14 June 2014

Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes

scientific article published in October 1997

Monitoring clinical progression with mitochondrial disease biomarkers

scientific article

Multi-system neurological disease is common in patients with OPA1 mutations

scientific article

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.

scientific article published on 2 May 2018

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

scientific article published on 24 September 2012

Muscle pain as a prominent feature of facioscapulohumeral muscular dystrophy (FSHD): four illustrative case reports

scientific article

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia

scientific article

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

scientific article

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

scientific article

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism

scientific article published on 01 April 2007

Mutation-specific effects in germline transmission of pathogenic mtDNA variants.

scientific article published in July 2018

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

scientific article

Mutations in SUCLA2: a tandem ride back to the Krebs cycle

scientific article published on March 2007

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.

scientific article

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

scientific article

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

scientific article (publication date: 22 April 2003)

NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy

scientific article

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

scientific article published on 18 November 2012

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

Neurodegeneration with brain iron accumulation

scientific article published on 01 January 2011

Neuroferritinopathy

article

Neuroferritinopathy

scientific article published on 18 January 2018

Neuroferritinopathy in a French family with late onset dominant dystonia

scientific article

Neuroferritinopathy: a new inborn error of iron metabolism

scientific article

Neuroferritinopathy: a window on the role of iron in neurodegeneration.

scientific article published on November 2002

Neuroferritinopathy: update on clinical features and pathogenesis

scientific article

Neuropathological and biochemical investigation of Hereditary Ferritinopathycases with ferritin light chain mutation: Prominent protein aggregation in the absence of major mitochondrial or oxidative stress

scientific article published on 28 May 2020

Neuropathological and histochemical changes in a multiple mitochondrial DNA deletion disorder

scientific article published on 01 July 2000

New approaches to the treatment of mitochondrial disorders

scientific article published on January 2004

New treatments for mitochondrial disease-no time to drop our standards

scientific article published on 02 July 2013

Next generation sequencing for neurological diseases: new hope or new hype?

scientific article published on 30 November 2012

No association between common POLG1 variants and sporadic idiopathic Parkinson's disease.

scientific article published in May 2009

No consistent evidence for association between mtDNA variants and Alzheimer disease

scientific article published on 21 March 2012

No correlation between muscle A3243G mutation load and mitochondrial function in vivo

scientific article published in April 2001

No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls

scientific article

No evidence of an association between the T16189C mtDNA variant and late onset dementia

scientific article published in January 2004

No evidence of substantia nigra telomere shortening in Parkinson's disease

scientific article

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

scientific article

Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy

scientific article published on 25 November 2009

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

scientific article

Nonrandom tissue distribution of mutant mtDNA

scientific article published on 01 August 1999

Normal levels of wild-type mitochondrial DNA maintain cytochrome c oxidase activity for two pathogenic mitochondrial DNA mutations but not for m.3243A-->G.

scientific article

Normokalemic periodic paralysis revisited: does it exist?

scientific article

Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy

scientific article published on 31 October 2016

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.

scientific article published in March 2009

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

scientific article published on 17 December 2010

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

scientific article published on 08 April 2020

Nuclear-mitochondrial proteins: too much to process?

scientific article

OPA1 increases the risk of normal but not high tension glaucoma

scientific article published on 5 July 2009

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

scientific article published on 25 October 2010

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

scientific article

OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy

scientific article published on 14 October 2010

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

scientific article

Occult gastro-intestinal cause of spastic paresis of the legs.

scientific article published in August 2008

One complex world of mitochondrial parkinsonism

scientific article published on August 2013

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia

scientific article published on 15 December 2017

Optic mitochondriopathies

scientific article published on 01 March 2005

Optic neuropathies--importance of spatial distribution of mitochondria as well as function

scientific article published on 10 August 2005

Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer

scientific article

Oxygen in mitochondrial disease: can there be too much of a good thing?

scientific article published on 08 June 2018

Oxygen tension modulates the mitochondrial genetic bottleneck and influences the segregation of a heteroplasmic mtDNA variant in vitro

scientific article published on 14 May 2021

PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring

scientific article

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

scientific article

POLG-Related Disorders

scientific article published in March 2018

POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease

scientific article

Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?

scientific article published on 20 February 2008

Pathogenic mitochondrial DNA mutations and human reproduction

scientific article published on 01 January 1999

Pathogenic mitochondrial DNA mutations are common in the general population

scientific article published on August 2008

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

scientific article published in August 2019

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

scientific article

Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations

scientific article

Peptide nucleic acid and delivery to human mitochondria

scientific article published in May 2000

Peptide nucleic acid delivery to human mitochondria

scientific article

Persistence of the treatment effect of idebenone in Leber's hereditary optic neuropathy

scientific article published on 6 February 2013

Phenotypic convergence of Menkes and Wilson disease

scientific article

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

scientific article

Phenotypic variability of TRPV4 related neuropathies

scientific article published on 18 March 2015

Point mutations of the mtDNA control region in normal and neurodegenerative human brains

scientific article published on 21 December 2000

Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity

scientific article published on November 2010

Population screening for variant Creutzfeldt-Jakob disease using a novel blood test: diagnostic accuracy and feasibility study

scientific article

Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population

scientific article

Prevalence of mitochondrial DNA disease in adults

scientific article

Prevalence of neurogenetic disorders in the North of England

scientific article

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

scientific article published on 28 March 2015

Preventing the transmission of pathogenic mitochondrial DNA mutations: Can we achieve long-term benefits from germ-line gene transfer?

scientific article published on 7 January 2013

Previous estimates of mitochondrial DNA mutation level variance did not account for sampling error: comparing the mtDNA genetic bottleneck in mice and humans

scientific article

Primary open angle glaucoma is associated with a specific p53 gene haplotype

scientific article published in April 2004

Primary spinal cord neurodegeneration in Leber hereditary optic neuropathy

scientific article

Progressive brain iron accumulation in neuroferritinopathy measured by the thalamic T2* relaxation rate.

scientific article

Progressive depletion of mtDNA in mitochondrial myopathy

scientific article published on 01 August 2006

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

scientific article published in October 2012

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease

scientific article

Psychophysical evaluation of cochlear hair cell damage due to the A3243G mitochondrial DNA mutation

scientific article

Quality of life in patients with leber hereditary optic neuropathy

scientific article

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

scientific article

Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy

scientific article

Random genetic drift determines the level of mutant mtDNA in human primary oocytes

scientific article

Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age.

scientific article published on 6 February 2001

Reactive oxygen species production and mitochondrial dysfunction in white blood cells are not valid biomarkers of ageing in the very old

scientific article

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

scientific article (publication date: October 1999)

Reassessing evidence for a postnatal mitochondrial genetic bottleneck

scientific article published in June 2010

Recent mitochondrial DNA mutations increase the risk of developing common late-onset human diseases

scientific article

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

scientific journal article

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 spastic paraparesis associated with complex I deficiency due toMTHFRmutations

article

Recurrent horizontal transfer identifies mitochondrial positive selection in a transmissible cancer

scientific article published on 16 June 2020

Recurrent strokes in a 34-year-old man

scientific article published on 01 August 1997

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

scientific article published on 7 September 2015

Relaxed replication of mtDNA: A model with implications for the expression of disease

scientific article published in April 1999

Replication of association between ELAVL4 and Parkinson disease: the GenePD study

scientific article

Reply: 'Behr syndrome' with OPA1 compound heterozygote mutations

scientific article published on 21 August 2014

Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

scientific article published on 10 July 2014

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

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

scientific article published on 27 February 2014

Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion

scientific article published on 10 December 2015

Reply: Sensorineural hearing loss in OPA1-linked disorders

scientific article published on 4 February 2013

Reply: Spastic paraplegia in ‘dominant optic atrophy plus’ phenotype due to OPA1 mutation

scientific article published on November 2011

Respiratory chain deficiency in nonmitochondrial disease

scientific article published on 27 April 2015

Response to Newman et al.

scientific article

Response to Simon et al.

scientific article published on 29 April 2017

Retrospective natural history of thymidine kinase 2 deficiency.

scientific article

Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1).

scientific article published in February 2008

Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1)

scientific article published on 10 May 2009

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

scientific article

Risk of developing a mitochondrial DNA deletion disorder

scientific article published in The Lancet

SCP2 mutations and neurodegeneration with brain iron accumulation

scientific article

SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.

scientific article published on 11 September 2014

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

scientific article

SPG7 mutations are a common cause of undiagnosed ataxia

scientific article

Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study

scientific article published on 01 July 2019

Searching for nuclear-mitochondrial genes

scientific article

Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy

scientific article

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

scientific article published on 15 January 2018

Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood

scientific article published on February 2008

Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids

scientific article published on February 1997

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

scientific article

Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism

scientific article

Severe toxicity and polymerase-γ gene abnormalities in Malawian adults on stavudine-based antiretroviral therapy

scientific article published in November 2013

Single-cell analysis of mitochondrial DNA.

scientific article published on January 2015

Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene

scientific article

Single-molecule mitochondrial DNA sequencing shows no evidence of CpG methylation in human cells and tissues

scientific article published on 01 December 2021

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

scientific article published on 6 November 2015

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

scientific article

Spectrum of movement disorders in neuroferritinopathy

article published in 2004

Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations

scientific article published in May 2002

Stem Cell modeling of Mitochondrial Parkinsonism reveals key functions of OPA1.

scientific article published on 31 March 2018

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

scientific article

Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure

scientific article

Subtle neurological and metabolic abnormalities in an Opa1 mouse model of autosomal dominant optic atrophy

scientific article published on 6 October 2009

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

Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease

scientific article published on 06 September 2012

T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation

scientific article published on April 2008

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

scientific article published on 19 February 2018

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

scientific journal article

Tau acts as an independent genetic risk factor in pathologically proven PD.

scientific article published on 4 January 2012

Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson's disease

scientific article published on August 2007

Teaching video neuroimages: muscle cramps and a raised creatine kinase

scientific article

The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe

scientific article published in April 2007

The Effect of Neurological Genomics and Personalized Mitochondrial Medicine.

scientific article

The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England

scientific article published in June 2016

The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study

scientific article

The Human Phenotype Ontology in 2017

scientific article (publication date: 28 November 2016)

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

The age of single-gene neurological disorders is not dead

scientific article published on July 2010

The challenges of mitochondrial replacement.

scientific article

The clinical spectrum of mitochondrial genetic disorders

scientific article published on 01 December 2008

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

scientific article published in May 2010

The contribution of the cerebellum to cognition in Spinocerebellar Ataxia Type 6.

scientific article

The distribution of mitochondrial DNA heteroplasmy due to random genetic drift

scientific article published on 30 October 2008

The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease

scientific article published in August 2015

The epidemiology of Leber hereditary optic neuropathy in the North East of England

scientific article

The epidemiology of mitochondrial disorders--past, present and future

scientific article

The epidemiology of pathogenic mitochondrial DNA mutations

The epidemiology of pathogenic mitochondrial DNA mutations

scientific article published on 01 August 2000

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

scientific article published on 20 May 2016

The implications of mitochondrial DNA copy number regulation during embryogenesis

scientific article published on 27 May 2011

The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?

scientific article published on 01 November 2000

The inheritance of pathogenic mitochondrial DNA mutations

scientific article published on 19 March 2009

The ischaemic lactate-ammonia test

scientific article

The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy

scientific article published on 01 November 2002

The mitochondrial DNA genetic bottleneck: inheritance and beyond

scientific article published on 20 July 2018

The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy

scientific article (publication date: 2001)

The mitochondrial protein CHCHD2 primes the differentiation potential of human induced pluripotent stem cells to neuroectodermal lineages.

scientific article published on 17 October 2016

The neurological and ophthalmological manifestations of SPG4-related hereditary spastic paraplegia

scientific article published on 13 December 2012

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

scientific article published on 10 June 2015

The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy

scientific article published on 17 July 2017

The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates

scientific article

The power to detect disease associations with mitochondrial DNA haplogroups

scientific article published on 17 February 2006

The prevalence and natural history of dominant optic atrophy due to OPA1 mutations

scientific article

The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy

scientific article published in April 2003

The role of apolipoprotein E gene polymorphisms in primary open-angle glaucoma.

scientific article published in February 2004

The role of mitochondrial haplogroups in primary open angle glaucoma

scientific article published on April 2006

The spectrum of hearing loss due to mitochondrial DNA defects

scientific article published in January 2000

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

scientific article published on 13 March 2013

Titin mutation segregates with hereditary myopathy with early respiratory failure

scientific article

Titinopathy in a Canadian family sharing the British founder haplotype.

scientific article published in January 2014

Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.

scientific article published on 14 December 2017

Translating cutting edge science into novel and effective therapies

scientific article published on 04 June 2010

Transmission of mitochondrial DNA disorders: possibilities for the future.

scientific article published on July 2006

Transmission of the human mitochondrial genome

scientific article

Treating MNGIE: is reducing blood nucleosides the first cure for a mitochondrial disorder?

scientific article published on 01 October 2006

Treatment for mitochondrial disorders

scientific article

Treatment for mitochondrial myopathy

scientific article

Treatment of mitochondrial disease

scientific article

Treatment strategies for inherited optic neuropathies: past, present and future

scientific article

Two direct repeats cause most human mtDNA deletions

scientific article published in September 2004

Two recurrent mutations are associated with GNE myopathy in the North of Britain.

scientific article published on 2 April 2014

Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease

scientific article published on 03 May 2013

Unique mitochondrial DNA in highly inbred feral cattle

scientific article (publication date: July 2012)

Universal heteroplasmy of human mitochondrial DNA.

scientific article

Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA.

scientific article published on 4 June 2014

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

scientific article published on 04 November 2021

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

scientific article published in July 2014

Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts

scientific article

Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON.

scientific article

Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy.

scientific article

Variation in germline mtDNA heteroplasmy is determined prenatally but modified during subsequent transmission

scientific article

Vertigo and vestibular abnormalities in spinocerebellar ataxia type 6.

scientific article published in January 2009

Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo

scientific article published on 01 March 2000

Visual and psychological morbidity among patients with autosomal dominant optic atrophy

scientific article published on 4 March 2013

Visualizing, quantifying and manipulating mitochondrial DNA in vivo

scientific article published on 15 October 2020

Vomiting, anorexia, and mitochondrial DNA disease

scientific article published on 01 February 1998

Voxel-based analysis in neuroferritinopathy expands the phenotype and determines radiological correlates of disease severity.

scientific article

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

scientific article

What causes mitochondrial DNA deletions in human cells?

scientific article published on March 2008

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

scientific article

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

scientific article published on 10 May 2015

Whole-genome sequencing of patients with rare diseases in a national health system

scientific article published on 24 June 2020

X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.

scientific article

mtDNA Population Variants and Neurodegenerative Diseases

mtDNA mutations and common neurodegenerative disorders

scientific article

mtDNA point mutations are present at various levels of heteroplasmy in human oocytes

scientific article published on 26 January 2007

mutations and central demyelination: Evidence from electrophysiologic phenotyping in female manifesting carriers

article

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