List of works by Rita Horvath

175th ENMC International Workshop: Mitochondrial protein synthesis in health and disease, 25–27th June 2010, Naarden, The Netherlands

article

A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II.

scientific article published on 23 May 2016

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)

scientific article published on 27 May 2019

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

scientific article published on 16 April 2012

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

scientific article published on 16 December 2009

A variable neurodegenerative phenotype with polymerase gamma mutation.

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

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

scientific article published on 24 January 2018

ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment

scientific article published on 13 October 2015

Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency

scientific article

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

scientific article (publication date: May 2014)

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

scientific article published on 17 August 2016

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

Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited

scientific article published on 15 June 2007

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

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

scientific article published on 28 June 2013

Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy

scientific article

Altered cerebral glucose metabolism in a family with clinical features resembling mitochondrial neurogastrointestinal encephalomyopathy syndrome in association with multiple mitochondrial DNA deletions

scientific article published in March 2008

Amyloid-β in mitochondrial disease: mutation in a human metallopeptidase links amyloidotic neurodegeneration with mitochondrial processing

scientific article

An Unusual Retinal Phenotype Associated With a Mutation in Sterol Carrier Protein SCP2.

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

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

Autosomal recessive variants in alter the γ-tubulin ring complex leading to neurodevelopmental disease

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

Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A.

scientific article published on 31 August 2017

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

scientific article published on 25 March 2016

Brain iron takes off: a new propeller protein links neurodegeneration with autophagy

scientific article published on 14 May 2013

Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency.

scientific article

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

article

Childhood presentation of “adult” polyglucosan body disease

scientific article published on 01 February 2013

Chronic and slowly progressive weakness of the legs and hands

scientific article published on 28 January 2014

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

Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil

scientific article published on 05 September 2018

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

scientific article

Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells

scientific article published in Scientific Reports

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

scientific article published in January 2015

Coenzyme Q10 deficiency and isolated myopathy.

scientific article published in January 2006

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

scientific article published on 11 September 2009

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

scientific article published in January 2005

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

scientific article published on 13 December 2019

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

scientific article

Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies

scientific article published in August 2016

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

scientific journal article

Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children.

scientific article published on 16 July 2011

Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys

scientific article published on 9 March 2009

Diagnosis of 'possible' mitochondrial disease: an existential crisis

scientific article published on 25 January 2019

Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome.

scientific article published on 27 September 2017

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

scientific article

Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene

scientific article published on 29 August 2015

Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome

scientific article

Emerging therapies for mitochondrial disorders

scientific article published on 03 May 2016

Epilepsy in adults with mitochondrial disease: A cohort study.

scientific article published on 18 September 2015

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

scientific article published on 2 February 2016

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

scientific article

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 in undiagnosed inherited and sporadic ataxias

scientific article

Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases

scientific article published on 22 July 2015

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

scientific article

Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency.

scientific article

Fibroblast growth factor 21, a biomarker for mitochondrial muscle disease.

scientific article published on 18 October 2013

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.

scientific article published on 21 July 2014

Fragiles X-assoziiertes Tremor-/Ataxie-Syndrom

scientific article published on 01 December 2009

Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort

scientific article published on August 2012

Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia

scientific article

Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome

scientific article

Genetic heterogeneity of motor neuropathies

scientific article published on March 2017

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

scientific article

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

scientific article

Gentamicin treatment in McArdle disease: Failure to correct myophosphorylase deficiency

scientific article published on 01 January 2006

HADHA and HADHB gene associated phenotypes - Identification of rare variants in a patient cohort by Next Generation Sequencing

scientific article published on 22 January 2019

Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.

scientific article published in August 2006

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

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

scientific article (publication date: 23 October 2001)

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

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

scientific article published on 27 April 2017

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

scientific article

Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing

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

Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation

scientific article

Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies

scientific article published on 09 September 2020

Initial development and validation of a mitochondrial disease quality of life scale.

scientific article published on 20 February 2013

Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases.

scientific article published on 23 October 2017

Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease

scientific article published on 7 February 2015

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

scientific article published in July 2010

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

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

scientific article

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

scientific article

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

scientific article

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)

scientific article

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency

scientific article published on 14 February 2017

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

scientific article published on 24 April 2010

MFN2 mutations cause compensatory mitochondrial DNA proliferation

scientific article published on 4 April 2012

MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics

scientific article published on 01 June 2019

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

Metabolic stroke in childhood: Diagnostic approach and suggestions for therapy

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

scientific article published on 18 August 2021

Mitochondria: impaired mitochondrial translation in human disease

scientific article published on 08 January 2014

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies

scientific article published on 11 July 2013

Mitochondrial DNA depletion and fatal infantile hepatic failure due to mutations in the mitochondrial polymerase γ (POLG) gene: a combined morphological/enzyme histochemical and immunocytochemical/biochemical and molecular genetic study

scientific article

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

scientific article published on 5 January 2016

Mitochondrial DNA transcription and translation: clinical syndromes

scientific article published on 20 July 2018

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

scientific article published on 26 June 2011

Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method

scientific article published on 08 November 2018

Mitochondrial dysfunction in liver failure requiring transplantation

scientific article

Mitochondrial myopathies: developments in treatment

scientific article published on October 2010

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

Mitochondriale Erkrankungen

Modifying Mitochondrial tRNAs: Delivering What the Cell Needs

scientific article published on 01 March 2015

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

scientific article published on 31 August 2009

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

scientific article published on 01 November 2019

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

Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran

scientific article published on 23 January 2020

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

scientific article published on 24 September 2012

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

scientific article

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

scientific article

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

scientific article

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

scientific article published on 18 June 2019

Mutations in glycyl-tRNA-synthetase impair mitochondrial metabolism in neurons.

scientific article published on 10 April 2018

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

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

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

Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C ⬇️

scientific article published on 17 December 2018

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

scientific article published on 02 July 2013

Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2

scientific article published on 14 August 2018

Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP).

scientific article published on 25 March 2016

Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum

scientific article published on 21 October 2016

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

scientific article published on 17 December 2010

Nuclear-mitochondrial proteins: too much to process?

scientific article

Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok -/- zebrafish

scientific article published on 01 March 2019

OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS

scientific article published on 01 November 2008

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

scientific article

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

scientific article

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

scientific article

Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys

scientific article published in January 2007

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

scientific article published on 23 June 2016

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

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

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

scientific article published on November 2010

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model

scientific article published on 29 September 2010

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

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

scientific article

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

scientific article published in October 2012

RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels

scientific article published on 11 June 2020

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

scientific article

Recurrent stroke-like episodes in X-linked Charcot-Marie-Tooth disease

scientific article published on 07 September 2011

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: POLR3A variants in hereditary spastic paraplegia and ataxia

scientific article published on 11 December 2017

Respiratory chain deficiency in nonmitochondrial disease

scientific article published on 27 April 2015

Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation

scientific article published on 2 March 2011

Response to Newman et al.

scientific article

Retrospective assessment of the most common mitochondrial DNA mutations in a large Hungarian cohort of suspect mitochondrial cases

scientific article published on 17 January 2014

Reversible infantile mitochondrial diseases

scientific article

Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?

scientific article published in January 2004

Revisiting mitochondrial diagnostic criteria in the new era of genomics.

scientific article published on 26 October 2017

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

SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy

article

SCP2 mutations and neurodegeneration with brain iron accumulation

scientific article

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

scientific article

SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human

scientific article published on 20 November 2018

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

Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome

scientific article published on 01 July 2019

Sequence analysis of Hungarian LHON patients not carrying the common primary mutations

scientific article published on 01 August 2002

Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).

scientific article published on September 2006

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

scientific article published on 01 March 2020

Store-Operated Ca2+ Entry Controls Induction of Lipolysis and the Transcriptional Reprogramming to Lipid Metabolism

scientific article

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

scientific article

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 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation

scientific article published in September 2011

The Effect of Neurological Genomics and Personalized Mitochondrial Medicine.

scientific article

The Human Cytochrome c Oxidase Assembly Factors SCO1 and SCO2 Have Regulatory Roles in the Maintenance of Cellular Copper Homeostasis

article by Scot C. Leary et al published May 2007 in Cell Metabolism

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

scientific article published in May 2010

The cloning and expression of a human creatine transporter

scientific article (publication date: 14 October 1994)

The genotypic and phenotypic spectrum of MTO1 deficiency.

scientific article published on 15 November 2017

The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis

scientific article

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

scientific article

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

scientific article

The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.

scientific article

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

scientific article

The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA.

scientific article published on 30 June 2008

The role of tRNA synthetases in neurological and neuromuscular disorders

scientific article published on 30 December 2017

The swinging pendulum of biomarkers in mitochondrial disease

scientific article published on 28 October 2016

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

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

scientific article

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

scientific article

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

scientific article published on 2 April 2014

Universal heteroplasmy of human mitochondrial DNA.

scientific article

Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10).

scientific article published on 10 January 2012

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

scientific article published on 4 June 2014

Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts

scientific article

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

scientific article published in May 2018

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

scientific article

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

scientific article

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

alpha-Tocopherol/lipid ratio in blood is decreased in patients with Leber's hereditary optic neuropathy and asymptomatic carriers of the 11778 mtDNA mutation

scientific article

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

article

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