List of works - Massimo Zeviani

Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.

scientific article published on 9 April 2015

MRI in Leigh syndrome with SURF1 gene mutation

scientific article published on 01 January 2002

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

scientific article published on 16 February 2017

The V368i mutation in Twinkle does not segregate with AdPEO

scientific article (publication date: February 2003)

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

article published in 2019

Functional outcome of children with mitochondrial diseases

scientific article published in May 2011

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

scientific article

Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians

scientific article published on 07 February 2008

Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations.

scientific article published on 21 March 2015

Mitochondrial complex III Rieske Fe-S protein processing and assembly

scientific article

Train, train, train! No pain, just gain

scientific article published on 29 October 2008

Neurological disorders due to mutations of the mitochondrial genome

scientific article published on January 1, 1991

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

scientific article published on 18 October 2014

Severe early onset ethylmalonic encephalopathy with West syndrome

scientific article published on 21 July 2015

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

scientific article

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

scientific article

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

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

scientific article

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation.

scientific article published in December 2004

Myoclonus epilepsy in mitochondrial disorders

scientific article published on 12 September 2016

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

scientific article

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.

scientific article published on 12 March 2018

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

scientific article published in January 2018

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

scholarly article published in Journal of Neurology

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

scientific article published on 19 July 2018

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

Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency.

scientific article published on 11 February 2016

Severe infantile hypotonia with ethylmalonic aciduria: case report

scientific article

MitochondrialPITRM1peptidase loss-of-function in childhood cerebellar atrophy

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

scientific article published on 01 January 2019

Mitochondrial Matchmaking

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

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene.

scientific article

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

scientific article

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

scientific article

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

scientific article

Lactic acidosis in a newborn with adrenal calcifications

scientific article published in September 2009

Strategies for fighting mitochondrial diseases

scientific article published on 25 February 2020

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

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

scientific article published on 7 March 2018

Mitochondrial Diseases in Childhood

scientific article published on January 1, 2014

Stroke due to mitochondrial disorders in Saudi children.

scientific article published in March 2006

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

scientific article

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

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

Opa1 Overexpression Protects from Early-Onset Mpv17-/--Related Mouse Kidney Disease

scientific article published on 12 June 2020

Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy

scientific article published in August 2009

Neural stem cells traffic functional mitochondria via extracellular vesicles

scientific article published on 07 April 2021

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

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

scientific article published on 23 August 2017

List of works by Massimo Zeviani

Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.

MRI in Leigh syndrome with SURF1 gene mutation

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

The V368i mutation in Twinkle does not segregate with AdPEO

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

Functional outcome of children with mitochondrial diseases

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

Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians

Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations.

Mitochondrial complex III Rieske Fe-S protein processing and assembly

Train, train, train! No pain, just gain

Neurological disorders due to mutations of the mitochondrial genome

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

Severe early onset ethylmalonic encephalopathy with West syndrome

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

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

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

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

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation.

Myoclonus epilepsy in mitochondrial disorders

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.

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

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

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

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

Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency.

Severe infantile hypotonia with ethylmalonic aciduria: case report

MitochondrialPITRM1peptidase loss-of-function in childhood cerebellar atrophy

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

Mitochondrial Matchmaking

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

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene.

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

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

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

Lactic acidosis in a newborn with adrenal calcifications

Strategies for fighting mitochondrial diseases

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

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

Mitochondrial Diseases in Childhood

Stroke due to mitochondrial disorders in Saudi children.

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

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

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

Opa1 Overexpression Protects from Early-Onset Mpv17-/--Related Mouse Kidney Disease

Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy

Neural stem cells traffic functional mitochondria via extracellular vesicles

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

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