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List of works by Massimo Zeviani

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

scientific article

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

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation

scientific article published on 23 August 2017

A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature

scientific article

A SIRT7-dependent acetylation switch of GABPβ1 controls mitochondrial function

scientific article published on 4 September 2014

A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction

scientific article published on 18 October 2014

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity

scientific article

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome

scientific article published in June 2003

A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy

scientific article published on 14 April 2015

A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy

scientific article published on 27 October 2017

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

scientific article

A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency

scientific article published in March 2002

A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

scientific article

A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.

scientific article published in January 2002

A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL

AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure

scientific article

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS

scientific article published on 01 January 2019

Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy

scientific article published on 27 May 2008

Adult-onset leukodystrophies from respiratory chain disorders: do they exist?

scientific article

Altered Sulfide (H2S) Metabolism in Ethylmalonic Encephalopathy ⬇️

scientific article published on January 1, 2013

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

scientific article published in Nature

Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology

scientific article published on January 2012

Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects

scientific article published on 21 June 2008

Ataxia in mitochondrial disorders

scientific article published on January 2012

Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case

scientific article published in January 2006

Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation

scientific article published in February 2002

COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

scientific article published on 28 September 2016

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

scientific article

Cardiomyopathies in disorders of oxidative metabolism ⬇️

scientific article published on August 1, 1997

Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy.

scientific article published in January 2018

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

scientific article

Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy

scientific article published on 25 February 2011

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

scientific article

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

scientific article published on 19 July 2018

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

scientific article

Cloning and expression of human nebulin cDNAs and assignment of the gene to chromosome 2q31-q32 ⬇️

scientific article published on April 1, 1988

Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population

scientific article published in September 2008

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

scientific article

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

scientific article

Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy

scientific article

Complex IV-deficient Surf1(-/-) mice initiate mitochondrial stress responses

scientific article published on September 2014

Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice

scientific journal article

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

scientific article

Data on cytochrome c oxidase assembly in mice and human fibroblasts or tissues induced by SURF1 defect

scientific article

Decreased in vitro mitochondrial function is associated with enhanced brain metabolism, blood flow, and memory in Surf1-deficient mice

scientific article published on 10 July 2013

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

scientific article published on 23 December 2015

Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations

scientific article published on 13 September 2010

Defects of mitochondrial DNA

scientific article published on April 1, 1992

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations

scientific article published on 16 May 2008

Depletion of mtDNA: syndromes and genes

scientific article published on 5 December 2006

Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase

scientific article (publication date: October 1992)

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB ⬇️

scientific article

Disorders of mitochondria and related metabolism

scientific article published on April 1997

Disorders of nuclear-mitochondrial intergenomic communication

scientific article published on June 2007

Disorders of nuclear-mitochondrial intergenomic signaling

scientific article

Down-regulation of the mitochondrial aspartate-glutamate carrier isoform 1 AGC1 inhibits proliferation and N-acetylaspartate synthesis in Neuro2A cells.

scientific article

Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I

scientific article

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

scientific article published on 14 December 2016

Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation

scientific article published on 5 June 2014

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

scientific article

Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy

scientific article

Effects of riboflavin in children with complex II deficiency

scientific article

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

scientific article

Emerging concepts in the therapy of mitochondrial disease

scientific article

Epstein-Barr virus immediate-early protein Zta co-opts mitochondrial single-stranded DNA binding protein to promote viral and inhibit mitochondrial DNA replication

scientific article

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

scholarly article published in Journal of Neurology

Erratum: Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

article

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

scientific article

Evolution meets disease: penetrance and functional epistasis of mitochondrial tRNA mutations

scientific article

Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene

scientific article published on 3 September 2016

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

scientific article

Expression of the Ciona intestinalis alternative oxidase (AOX) in Drosophila complements defects in mitochondrial oxidative phosphorylation

scientific article published in May 2009

Expression of the SMN Gene, the Spinal Muscular Atrophy Determining Gene, in the Mammalian Central Nervous System ⬇️

scientific article published on October 1, 1997

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency

scientific article published on 4 September 2008

FBXL4 is a mitochondria-localized protein in which autosomal recessive mutations cause multiple respiratory chain multisystem disease commonly involving cortical atrophy and leukodystrophy

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders

scientific article published on 28 October 2016

Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease

article

Frequency of DYT1 mutation in early onset primary dystonia in Italian patients

article

Functional characterization of drim2, the Drosophila melanogaster homolog of the yeast mitochondrial deoxynucleotide transporter

scientific article published on 27 January 2014

Functional outcome of children with mitochondrial diseases

scientific article published in May 2011

Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE.

scientific article published on 22 January 2014

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

Genotypes from patients indicate no paternal mitochondrial DNA contribution

scientific article published on 01 October 2003

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients

scientific article published on 31 October 2008

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

scientific article

Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene

scientific article published on July 2012

Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations

scientific article published in August 2008

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

scientific article

How do human cells react to the absence of mitochondrial DNA?

scientific article

Human diseases associated with defects in assembly of OXPHOS complexes

scholarly article by Daniele Ghezzi published in July 2018

Human mitochondrial complex I assembly is mediated by NDUFAF1.

scientific article

Idebenone treatment in patients with OPA1-mutant dominant optic atrophy

scientific article

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

scientific article

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

scientific article published on 15 October 2008

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy

scientific article

In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis

scientific article

Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice

scientific article published on 08 January 2007

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

scientific article

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

scientific article published on 2 February 2005

Infantile mitochondrial encephalopathy

scientific article published on 26 May 2011

Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7

scientific article published on 01 May 2019

Instability of mitochondrial DNA and MRI and clinical correlations in malignant gliomas.

scientific article

Isolation of mitochondria for biogenetical studies: An update.

scientific article

LBSL (leukoencephalopathy with brain stem and spinal cord involvement and high lactate) without sparing of the u-fibers and globi pallidi: A case report

LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells

scientific article

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

scientific article

Lactic acidosis in a newborn with adrenal calcifications

scientific article published in September 2009

Leigh syndrome in Drosophila melanogaster: morphological and biochemical characterization of Surf1 post-transcriptional silencing

scientific article published on 27 August 2014

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

scientific article

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients

article

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

scientific article published on 16 April 2010

Long-term sustained effect of liver-targeted AAV gene therapy for MNGIE.

scientific article published on 28 December 2017

Loss of COX4I1 Leads to Combined Respiratory Chain Deficiency and Impaired Mitochondrial Protein Synthesis

scientific article published in 2021

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

scientific article

MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I.

scientific article published on 23 July 2012

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

scientific article

MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations

scientific article

MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase

scientific article published on February 2017

MRI in Leigh syndrome with SURF1 gene mutation

scientific article published on 01 January 2002

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

scientific article

Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: An example of phenotypic mimicry? ⬇️

scientific article published on 01 December 1991

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.

scientific article

Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment

scientific article published in January 2005

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

scientific article published on 5 January 2016

Mitochondrial Matchmaking

scientific article

Mitochondrial complex III Rieske Fe-S protein processing and assembly

scientific article

Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation

scientific article published on 12 October 2010

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families ⬇️

scientific article published on July 1, 1997

Mitochondrial diseases

Mitochondrial diseases: a cross-talk between mitochondrial and nuclear genomes

scientific article published on January 2009

Mitochondrial disorders

scientific article

Mitochondrial disorders

Mitochondrial disorders

Mitochondrial disorders

scientific article published on 01 September 2003

Mitochondrial disorders

scientific article published on 01 October 2003

Mitochondrial disorders of the oxphos system

scientific article published on 07 November 2020

Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy

scientific article published in August 2009

Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders

scientific article

MitochondrialPITRM1peptidase loss-of-function in childhood cerebellar atrophy

Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster

scientific article published on 17 July 2021

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

scientific article

Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes

scientific article

Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene

scientific article published in November 2004

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy

scientific article published on 22 October 2011

MtDNA-maintenance defects: syndromes and genes

scientific article published on 21 March 2017

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

scientific article

Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability

scientific article published on 11 March 2004

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

scientific article

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease

scientific article

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

scientific article

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

scientific article

Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome

scientific article

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

scientific article

Mutations in compromise cell survival in OxPhos-dependent metabolic conditions

scientific article published on 01 October 2018

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency

scientific article (publication date: May 2001)

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

scientific article

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

scientific article published on 17 May 2012

Myoclonus epilepsy in mitochondrial disorders

scientific article published on 12 September 2016

Myoclonus in mitochondrial disorders

scientific article published on 7 February 2014

NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease

scientific article

Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations

scientific article published on 07 October 2020

Neurological disorders due to mutations of the mitochondrial genome ⬇️

scientific article published on January 1, 1991

Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage

scientific article

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

scientific article published on 8 March 2016

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

scientific article published on 02 July 2013

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

scientific article

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).

scientific article

Novel (ovario) leukodystrophy related to AARS2 mutations

scientific article

Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations ⬇️

scientific article published on January 1, 2002

Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation

scientific article

Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy

scientific article

Nuclear gene mutations as the cause of mitochondrial complex III deficiency

scientific article published on 09 April 2015

Nuclear genes in mitochondrial disorders.

scientific article

Nucleus-driven mutations of human mitochondrial DNA

scientific article published on January 1, 1992

OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape

scientific article published on February 2008

OPA1 mutations associated with dominant optic atrophy influence optic nerve head size

scientific article published on 24 April 2010

Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models.

scientific article published on June 2015

Oxidative phosphorylation dysfunction does not increase the rate of accumulation of age-related mtDNA deletions in skeletal muscle ⬇️

scientific article published on 01 September 1997

Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation

scientific article published in June 2005

PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy.

scientific article published on 24 January 2017

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum

scientific article published in April 2008

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection

scientific article

Paradoxical Inhibition of Glycolysis by Pioglitazone Opposes the Mitochondriopathy Caused by AIF Deficiency

scientific article published on 16 February 2017

Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence

scientific article published on 5 January 2009

Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy

scientific article published on 9 January 2012

Peripheral neuropathy in mitochondrial disorders

scientific article

Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy

scholarly article by Sukru Anil Dogan published in November 2018

Pharmacological Inhibition of poly(ADP-ribose) polymerases improves fitness and mitochondrial function in skeletal muscle

scientific article

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

scientific article published in May 2013

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

scientific article

Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis.

scientific article

Post-transcriptional silencing and functional characterization of the Drosophila melanogaster homolog of human Surf1.

scientific article

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

scientific article published on 29 September 2010

Proteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modifications

scientific article published on 25 July 2013

Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency.

scientific article published on 11 February 2016

RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome assembly through their interaction with GTPases

scientific article published on 31 July 2020

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

scientific article

RNase H1 directs origin-specific initiation of DNA replication in human mitochondria

article published in 2019

Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis

scholarly article by Gabriele Civiletto et al published 11 October 2018 in EMBO Molecular Medicine

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy

scientific article

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

scientific article published on 07 September 2016

Redefining phenotypes associated with mitochondrial DNA single deletion

scientific article published on 26 March 2015

Respiratory supercomplexes act as a platform for complex III-mediated maturation of human mitochondrial complexes I and IV

scientific article published on 08 January 2020

Risk of developing a mitochondrial DNA deletion disorder

scientific article published in The Lancet

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

scientific article

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease

scientific journal article

Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.

scientific article

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in Apoptosis Inducing Factor 1

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

scientific article

Severe early onset ethylmalonic encephalopathy with West syndrome

scientific article published on 21 July 2015

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase

scientific article published on 22 May 2008

Severe infantile hypotonia with ethylmalonic aciduria: case report

scientific article

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

scientific article

Strategies for fighting mitochondrial diseases

scientific article published on 25 February 2020

Stroke due to mitochondrial disorders in Saudi children.

scientific article published in March 2006

Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia

scientific article

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

scientific article

Systematic identification of human mitochondrial disease genes through integrative genomics

scientific article

TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III.

scientific article published on 15 June 2017

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

scientific article published in April 2007

The OPA1-dependent mitochondrial cristae remodeling pathway controls atrophic, apoptotic, and ischemic tissue damage

scientific article

The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex

scientific article published on 12 June 2009

The V368i mutation in Twinkle does not segregate with AdPEO

scientific article (publication date: February 2003)

The expanding spectrum of nuclear gene mutations in mitochondrial disorders ⬇️

scientific article published on December 1, 2001

The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes

scientific article published on 22 January 2013

The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes.

scientific article published on 3 June 2014

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

scientific article

The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool

scientific article

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

scientific article published on 25 April 2006

Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects.

scientific article published on 12 January 2016

Train, train, train! No pain, just gain

scientific article published on 29 October 2008

Transcription Factor EB Controls Metabolic Flexibility during Exercise

scientific article published on 20 December 2016

Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism

scientific article published on 27 May 2008

UCP4C mediates uncoupled respiration in larvae of Drosophila melanogaster

scientific article published on 17 March 2014

Unravelling the Effects of the Mutation m.3571insC/MT-ND1 on Respiratory Complexes Structural Organization

scientific article published on 7 March 2018

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

scientific article published on 24 June 2014

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

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

scientific article

X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant

scientific article published on 01 February 1996

Zidovudine administration during pregnancy and mitochondrial disease in the offspring

scientific article

miR-181a/b downregulation exerts a protective action on mitochondrial disease models

scientific article published on 01 May 2019

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