M. Zeviani

M. Zeviani, N. Nardocci, C. Lamperti, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

K. Fischbeck, M. Zeviani, L. Biesecker, 2012, American journal of human genetics.

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

M. Zeviani, E. Lamantea, G. Uziel, 2013, Journal of Neurology.

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

Robert W. Taylor, M. Minczuk, E. Bertini, 2014, American journal of human genetics.

Mutations in APOPT 1 , Encoding a Mitochondrial Protein , Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Robert W. Taylor, E. Bertini, T. Meitinger, 2017 .

Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

Robert W. Taylor, E. Bertini, T. Meitinger, 2014, American journal of human genetics.

Mitochondrial disorders.

M. Zeviani, V. Carelli, 2003, Current opinion in neurology.

Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy.

M. Zeviani, C. Viscomi, M. Hirano, 2018, Human gene therapy.

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

M. Zeviani, C. Viscomi, M. Hirano, 2017 .

Faculty Opinions recommendation of Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity.

M. Zeviani, D. Ghezzi, 2009 .

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

M. Zeviani, N. Nardocci, P. Pinton, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations

M. Zeviani, B. Castellotti, C. Gellera, 2001, Neuromuscular Disorders.

Peripheral neuropathy in mitochondrial disorders

M. Zeviani, D. Pareyson, E. Salsano, 2013, The Lancet Neurology.

Characterization and expression of the mouse endonuclease G gene.

V. Tiranti, M. Zeviani, J. Vaqué, 1997, DNA and cell biology.

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

M. Zeviani, R. Schüle, L. Schöls, 2020, Annals of neurology.

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

M. Baumgartner, T. Wieland, T. Meitinger, 2012, American journal of human genetics.

Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis.

M. Rocchi, V. Tiranti, M. Zeviani, 1995, Genomics.

McArdle's disease: Biochemical and molecular genetic studies

R. Fletterick, S. Dimauro, M. Zeviani, 1988, Annals of neurology.

OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy

M. Zeviani, P. Rustin, C. Mariotti, 1995, Muscle & nerve. Supplement.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary

Robert W. Taylor, S. Dimauro, D. Turnbull, 2006 .

Two independent respiratory chains adapt OXPHOS performance to glycolytic switch.

M. Zeviani, J. Arenas, Miguel Ángel Martín, 2022, Cell metabolism.

Novel (ovario) leukodystrophy related to AARS2 mutations

A. Vanderver, R. Schiffmann, T. Meitinger, 2014, Neurology.

Transthyretin

E. Schon, A. Dwork, M. Zeviani, 1986, Neurology.

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

M. Zeviani, L. Bindoff, L. Ersland, 2010, Brain : a journal of neurology.

An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.

L. Peltonen, J. Weissenbach, G. Comi, 1996, American journal of human genetics.

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

D. Turnbull, M. Zeviani, P. Chinnery, 2002, Neurology.

Accelerated cardiomyopathy in maternally inherited diabetes and deafness.

M. Zeviani, R. Mangiafico, C. Fiore, 2004, International journal of clinical pharmacology research.

REVIEW ARTICLE Mitochondrial disorders

M. Zeviani, S. di Donato, Massimo Zeviani, 2004 .

Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy

M. Zeviani, E. Lamantea, Isabella Pisano, 2008, Neuromuscular Disorders.

Devic’s neuromyelitis optica and mitochondrial DNA mutation: a case report

M. Zeviani, A. Ghezzi, M. Zaffaroni, 2004, Neurological Sciences.

Remarkable recovery of visual function in a patient with Leber's optic neuropathy and multiple mutations of mitochondrial DNA.

M. Zeviani, A. Salmaggi, F. Carrara, 1994, The International journal of neuroscience.

Evolution Meets Disease: Penetrance and Functional Epistasis of Mitochondrial tRNA Mutations

M. Zeviani, J. Enríquez, P. Fernández-Silva, 2011, PLoS genetics.

Effects of pirenzepine on plasma insulin, glucagon and pancreatic polypeptide levels in normal man

M. Zeviani, E. Ragazzi, M. Zaccaria, 2004, European Journal of Clinical Pharmacology.

Cytochrome c Oxidase subunit I microdeletion in a patient with motor neuron disease

Massimo Zeviani, S. Salani, N. Bresolin, 1998, Annals of neurology.

Depletion of mtDNA: syndromes and genes.

V. Tiranti, M. Zeviani, R. Mineri, 2007, Mitochondrion.

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

M. Zeviani, 2008, Brain : a journal of neurology.

Epileptic phenotypes associated with mitochondrial disorders

M. Zeviani, G. Avanzini, F. Villani, 2001, Neurology.

Inhibition of proteasomal degradation rescues a pathogenic variant of mitochondrial Respiratory chain assembly 1 factor

M. Zeviani, P. Rehling, M. Dadlez, 2018, bioRxiv.

Lactic Acidosis in a Newborn With Adrenal Calcifications

M. Zeviani, S. Seneca, W. Lissens, 2009, Pediatric Research.

Order of six loci at 2q24-q31 and orientation of the HOXD locus.

M. Zeviani, E. Boncinelli, A. Faiella, 1994, Genomics.

Idebenone treatment in patients with OPA1-mutant dominant optic atrophy.

M. Zeviani, G. Savini, P. Barboni, 2013, Brain : a journal of neurology.

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

M. Zeviani, P. Chinnery, 2008, Neuromuscular Disorders.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Robert W. Taylor, D. Turnbull, M. Zeviani, 2006, Brain : a journal of neurology.

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

E. Hoffman, M. Zeviani, P. Barboni, 1996, American journal of medical genetics.

Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement.

M. Zeviani, A. Reyes, C. Bruno, 2019, Molecular genetics and metabolism.

Leigh Syndrome in Drosophila melanogaster

M. Zeviani, C. Millino, A. Biscontin, 2014, The Journal of Biological Chemistry.

Epilepsy in Mitochondrial Disorders

M. Zeviani, S. Franceschetti, E. Lamantea, 2011 .

Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy

M. Zeviani, H. Jacobs, G. Brea-Calvo, 2018, Cell metabolism.

EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2011, European journal of neurology.

Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo

Pedro Rebelo-Guiomar, L. Van Haute, M. Minczuk, 2018, Nature Medicine.

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

M. Zeviani, E. Malfatti, E. Lamantea, 2007, Brain : a journal of neurology.

AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome

M. Zeviani, C. Lamperti, C. Viscomi, 2017, Gene Therapy.

Disorders of mitochondria and related metabolism.

V. Tiranti, M. Zeviani, P. Fernández-Silva, 1997, Current opinion in neurology.

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations

D. Turnbull, M. Zeviani, L. Bindoff, 2005, Neurology.

Metabolic myopathies.

S. Dimauro, E. Schon, M. Zeviani, 1986, American journal of medical genetics.

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

V. Tiranti, M. Zeviani, Tatjana M. Hildebrandt, 2009, Nature Medicine.

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

M. Zeviani, Tatjana M. Hildebrandt, H. Braun, 2013, Bioscience reports.

Blue-Native Electrophoresis to Study the OXPHOS Complexes.

M. Zeviani, E. Fernández-Vizarra, 2021, Methods in molecular biology.

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

M. Zeviani, J. Holton, E. Lamantea, 2020, Neurology: Genetics.

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency

T. Wieland, A. Munnich, H. Smeets, 2018 .

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

M. Zeviani, M. Vrbacký, J. Houštěk, 2016, Data in brief.

Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk.

M. Zeviani, C. Lamperti, 2009, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

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

M. Zeviani, S. Eriksson, F. Carrara, 2005, Molecular genetics and metabolism.

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

M. Zeviani, E. Lamantea, 2004, Annals of neurology.

Mitochondrial disorders.

M. Zeviani, C. Antozzi, 1997, Molecular human reproduction.

POLG1 in idiopathic Parkinson disease

M. Zeviani, D. Burn, P. Chinnery, 2006, Neurology.

Response to Drs. Djouadi and Bastin

M. Zeviani, C. Viscomi, 2011 .

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

M. Zeviani, P. Barboni, P. Chinnery, 2013, Brain : a journal of neurology.

Defective PITRM 1 mitochondrial peptidase is associated with A b amyloidotic neurodegeneration

Amati, M. Zeviani, S. Johansson, 2015 .

DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion

M. Minczuk, M. Zeviani, A. Reyes, 2021, Nucleic acids research.

In vivo and in vitro mechanistic characterization of a clinically relevant PolγA mutation

M. Minczuk, M. Zeviani, A. Reyes, 2020, bioRxiv.

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

M. Zeviani, A. Reyes, M. Falkenberg, 2018, Nucleic acids research.

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

M. Zeviani, C. Lamperti, C. Viscomi, 2014, Molecular therapy : the journal of the American Society of Gene Therapy.

Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency.

S. Dimauro, M. Zeviani, S. Servidei, 1986, Archives of neurology.

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

M. Zeviani, G. Giannuzzi, P. Pinton, 2017, Biochimica et biophysica acta. Molecular basis of disease.

Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap

M. Zeviani, F. Muntoni, G. Serra, 1996, Brain and Development.

Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: Immunological studies in a new patient

S. Dimauro, M. Zeviani, I. Nonaka, 1985, Annals of neurology.

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

M. Zeviani, C. Gustafsson, A. Reyes, 2019, PLoS genetics.

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

M. Zeviani, Jianguo Zhang, A. Reyes, 2015, American journal of human genetics.

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

M. Zeviani, J. Barquinero, C. Viscomi, 2014, Molecular therapy : the journal of the American Society of Gene Therapy.

Disorders of Nuclear-Mitochondrial Intergenomic Communication

M. Zeviani, A. Spinazzola, 2007, Bioscience reports.

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

M. Zeviani, C. Gellera, P. Chinnery, 2006, Brain : a journal of neurology.

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

G. Comi, M. Zeviani, M. Mancuso, 2014, Journal of Neurology.

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

V. Tiranti, M. Zeviani, A. Burlina, 2012, Journal of Inherited Metabolic Disease.

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

V. Tiranti, M. Zeviani, Tatjana M. Hildebrandt, 2011 .

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

V. Tiranti, M. Zeviani, G. Uziel, 2008, Journal of Medical Genetics.

Compound Heterozygous Missense and Deep Intronic Variants in NDUFAF6 Unraveled by Exome Sequencing and mRNA Analysis

E. Bertini, R. Carrozzo, M. Zeviani, 2018, Journal of Human Genetics.

Epstein-Barr Virus Immediate-Early Protein Zta Co-Opts Mitochondrial Single-Stranded DNA Binding Protein To Promote Viral and Inhibit Mitochondrial DNA Replication

V. Tiranti, M. Zeviani, P. Lieberman, 2008, Journal of Virology.

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

T. Strom, M. Zeviani, H. Prokisch, 2009, Nature Genetics.

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

V. Mootha, Pedro Rebelo-Guiomar, Aaron R D'Souza, 2017, Human molecular genetics.

Revisiting mitochondrial ocular myopathies: a study from the Italian Network

G. Comi, M. Zeviani, M. Mancuso, 2017, Journal of Neurology.

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

M. Zeviani, E. Lamantea, D. Ghezzi, 2014, Front. Genet..

Mitochondrial Cytochrome c Oxidase Defects Alter Cellular Homeostasis of Transition Metals

M. Zeviani, P. Pastore, R. Costa, 2022, Frontiers in Cell and Developmental Biology.

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

M. Zeviani, R. Villems, T. Kivisild, 2004, American journal of human genetics.

Mitochondrial diseases

S. Dimauro, D. Turnbull, M. Zeviani, 2016, Nature Reviews Disease Primers.

Mitochondrial diseases.

S. Dimauro, M. Zeviani, D. Devivo, 1989, Neurologic clinics.

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Robert W. Taylor, H. Smeets, M. Zeviani, 2016, Human molecular genetics.

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

L. Leocani, M. Filippi, M. Rocca, 2015, Journal of Neurology.

Functional outcome of children with mitochondrial diseases.

M. Zeviani, D. Neubauer, M. Meznaric, 2011, Pediatric neurology.

Mitochondrial Neurodegeneration

M. Zeviani, C. Viscomi, 2022, Cells.

Role of adenine nucleotide translocator 1 in mtDNA maintenance.

L. Peltonen, G. Comi, V. Tiranti, 2000, Science.

Metabolic and Mitochondrial Ataxias

E. Bertini, M. Zeviani, C. Dionisi-Vici, 2003 .

Cardiomyopathies in disorders of oxidative metabolism.

M. Zeviani, C. Antozzi, 1997, Cardiovascular research.

An international classification of inherited metabolic disorders (ICIMD)

Robert W. Taylor, A. Ballabio, E. Bertini, 2020, Journal of inherited metabolic disease.

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients

G. Comi, M. Zeviani, M. Mancuso, 2019, Front. Neurol..

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

M. Zeviani, E. Lamantea, A. Giovagnoli, 2011, Journal of the Neurological Sciences.

Reduced mitochondrial Ca2+ transients stimulate autophagy in human fibroblasts carrying the 13514A>G mutation of the ND5 subunit of NADH dehydrogenase

V. Tiranti, M. Zeviani, V. Giorgio, 2015, Cell Death and Differentiation.

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

G. Comi, C. Larsson, V. Tiranti, 2001, Nature Genetics.

A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.

S. Dimauro, E. Schon, M. Zeviani, 1989, Science.

Isolation of mitochondria for biogenetical studies: An update.

M. Zeviani, J. Enríquez, P. Fernández-Silva, 2010, Mitochondrion.

Demonstration and characterization of anti-human mitochondria autoantibodies in idiopathic hypoparathyroidism and in other conditions.

M. Zeviani, C. Betterle, A. Caretto, 1985, Clinical and experimental immunology.

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

V. Tiranti, M. Zeviani, C. Viscomi, 2011, Antioxidants & redox signaling.

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

M. Zeviani, A. Porcelli, A. Ghelli, 2018, International journal of molecular sciences.

Myoclonic epilepsy and ragged‐red fibers with cytochrome oxidase deficiency: Neuropathology, biochemistry, and molecular genetics

S. Dimauro, M. Zeviani, W. Engel, 1989, Annals of neurology.

Transthyretin: A choroid plexus‐specific transport protein in human brain The 1986 S. Weir Mitchell Award

E. Schon, A. Dwork, M. Zeviani, 1986, Neurology.

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

N. Ashley, M. Zeviani, S. Adams, 2008, Human molecular genetics.

Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.

N. Ashley, M. Zeviani, R. Naviaux, 2007, Human molecular genetics.

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.

V. Tiranti, M. Zeviani, A. Reyes, 2016, Biochimica et biophysica acta.

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

T. Meitinger, T. Strom, M. Zeviani, 2012, American journal of human genetics.

Nucleus-Driven Lesions of mtDNA and Disorders of Nucleus-Encoded Energy Genes

V. Petruzzella, M. Zeviani, M. Munaro, 1999 .

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

S. Dimauro, E. Schon, M. Zeviani, 1998, Neurology.

Deletions of mitochondrial DNA in Kearns‐Sayre syndrome

S. Dimauro, E. Schon, M. Zeviani, 1988, Neurology.

MtDNA-maintenance defects: syndromes and genes

M. Zeviani, C. Viscomi, 2017, Journal of Inherited Metabolic Disease.

Strategies for fighting mitochondrial diseases

M. Zeviani, C. Viscomi, 2020, Journal of internal medicine.

Cytochrome c oxidase deficiency in leigh syndrome

S. Dimauro, M. Zeviani, G. Uziel, 1987, Annals of neurology.

Clinical and molecular features of mitochondrial DNA depletion syndromes

M. Zeviani, E. Lamantea, A. Spinazzola, 2009, Journal of Inherited Metabolic Disease.

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

M. Zeviani, L. Notarangelo, G. Uziel, 2009, Journal of hepatology.

Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction

M. Zeviani, M. Zoratti, L. Biasutto, 2021, Nature communications.

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

Massimo Zeviani, Cristina Ugalde, M. Zeviani, 2020, The EMBO journal.

Nuclear gene mutations as the cause of mitochondrial complex III deficiency

M. Zeviani, E. Fernández-Vizarra, 2015, Front. Genet..

A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity

M. Zeviani, D. Ghezzi, C. Lamperti, 2013, Human mutation.

Mitochondrial myopathies

S. Dimauro, E. Schon, M. Zeviani, 1987, Journal of Inherited Metabolic Disease.

Molecular defects in cytochrome oxidase in mitochondrial diseases

S. Dimauro, E. Schon, M. Zeviani, 1988, Journal of bioenergetics and biomembranes.

Cytochrome Oxidase Deficiency: Clinical and Biochemical Heterogeneity a

S. Dimauro, E. Schon, M. Zeviani, 1986, Annals of the New York Academy of Sciences.

Fatal infantile cytochrome c oxidase deficiency

N. Bresolin, S. Dimauro, M. Zeviani, 1985, Neurology.

Evidence that nebulin is a protein‐ruler in muscle thin filaments

T. Gibson, M. Zeviani, K. Leonard, 1991, FEBS letters.

Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: A morphological, biochemical and molecular-genetic study

V. Tiranti, M. Zeviani, G. Uziel, 1995, Journal of Neurology.

Disorders from perturbations of nuclear‐mitochondrial intergenomic cross‐talk

M. Zeviani, A. Spinazzola, 2009, Journal of internal medicine.

Functional Characterization of drim2, the Drosophila melanogaster Homolog of the Yeast Mitochondrial Deoxynucleotide Transporter

M. Zeviani, C. Tacchetti, B. Pacchioni, 2014, The Journal of Biological Chemistry.

Nuclear genes in mitochondrial disorders.

Massimo Zeviani, Valerio Carelli, M. Zeviani, 2003, Current opinion in genetics & development.

International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

M. Zeviani, H. Prokisch, M. Mancuso, 2017, Neuromuscular Disorders.

Disorders of nuclear-mitochondrial intergenomic signaling.

M. Zeviani, A. Spinazzola, 2005, Gene.

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

D. Turnbull, V. Tiranti, M. Zeviani, 2003, Neurology.

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

E. Bertini, R. Carrozzo, M. Zeviani, 2017, Biochimica et biophysica acta. Molecular basis of disease.

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

G. Comi, V. Tiranti, M. Zeviani, 2007, American journal of human genetics.

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

Marni J. Falk, T. Wieland, T. Meitinger, 2013, American journal of human genetics.

Mitochondrial complex III Rieske Fe-S protein processing and assembly

M. Zeviani, E. Fernández-Vizarra, 2018, Cell cycle.

A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

V. Tiranti, M. Zeviani, E. Lamantea, 1997, Human molecular genetics.

Sequence of cDNAs encoding subunit Vb of human and bovine cytochrome c oxidase.

S. Dimauro, E. Schon, M. Zeviani, 1988, Gene.

Isolation of a cDNA clone encoding subunit IV of human cytochrome c oxidase.

M. I. Lomax, S. Dimauro, E. Schon, 1987, Gene.

Analysis of giant deletions of human mitochondrial DNA in progressive external ophthalmoplegia

S. Dimauro, E. Schon, M. Zeviani, 1991 .

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

S. Dimauro, M. Zeviani, C. Gellera, 1989, Nature.

Evidence of Linkage between Susceptibility to Multiple Sclerosis and HLA-Class II Loci in Italian Multiplex Families

M. Zeviani, M. Pandolfo, P. Gasparini, 1995, European journal of human genetics : EJHG.

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

M. Zeviani, P. Gasparini, P. D'Adamo, 2008, American journal of human genetics.

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

Massimo Zeviani, Erika Fernandez-Vizarra, M. Zeviani, 2007, Human molecular genetics.

Knockdown of APOPT1/COA8 Causes Cytochrome c Oxidase Deficiency, Neuromuscular Impairment, and Reduced Resistance to Oxidative Stress in Drosophila melanogaster

M. Zeviani, R. Costa, C. De Pittà, 2019, Front. Physiol..

An autosomal locus predisposing to deletions of mitochondrial DNA

L. Peltonen, J. Weissenbach, M. Zeviani, 1995, Nature Genetics.

Familial Progressive Sensorineural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment with Aminoglycosides

X. Estivill, M. Zeviani, E. Romero, 1998 .

Impaired Mitochondrial ATP Production Downregulates Wnt Signaling via ER Stress Induction.

L. Scorrano, M. Zeviani, S. Dupont, 2019, Cell reports.

Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.

V. Tiranti, M. Zeviani, L. Nijtmans, 1999, Human molecular genetics.

Cytochrome c oxidase deficiency.

N. Bresolin, S. Dimauro, M. Zeviani, 1985, Biochemical Society transactions.

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

M. Zeviani, M. Vrbacký, J. Houštěk, 2016, Biochimica et biophysica acta.

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

M. Zeviani, E. Lamantea, D. Ghezzi, 2012, Neuromuscular Disorders.

A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.

V. Tiranti, M. Zeviani, E. Lamantea, 2000, Human molecular genetics.

Loss‐of‐function mutations of SURF‐1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency

G. Comi, T. Meitinger, V. Tiranti, 1999, Annals of neurology.

First of two parts

Finland., J. Finsterer, M. Rossor, 2001 .

EFNS task force on molecular diagnosis of neurologic disorders Guidelines for the molecular diagnosis of inherited neurologic diseases First of two parts

J. Finsterer, M. Rossor, M. Zeviani, 2001, European journal of neurology.

A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.

V. Petruzzella, M. Zeviani, P. Gasparini, 1998, Biochemical and biophysical research communications.

The myelin basic protein gene is not a major susceptibility locus for multiple sclerosis in Italian patients

M. Zeviani, M. Pandolfo, P. Gasparini, 1994, Journal of Neurology.

Mitochondrial Retinopathies

M. Zeviani, V. Carelli, 2021, International journal of molecular sciences.

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

M. Zeviani, M. Pane, E. Mercuri, 2017, Human mutation.

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

M. Zeviani, B. Barbiroli, D. Manners, 2011, Archives of neurology.

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

M. Zeviani, P. Chinnery, P. Yu-Wai-Man, 2010, Molecular vision.

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

M. Zeviani, G. Savini, P. Barboni, 2010, Ophthalmology.

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

D. Turnbull, M. Zeviani, A. Wright, 2010, Brain : a journal of neurology.

Dominance in mitochondrial disorders

M. Zeviani, V. Carelli, 2005, Journal of Inherited Metabolic Disease.

The expanding spectrum of nuclear gene mutations in mitochondrial disorders.

M. Zeviani, 2001, Seminars in cell & developmental biology.

Neural stem cells traffic functional mitochondria via extracellular vesicles

M. Zeviani, P. Lehner, Á. Kittel, 2021, PLoS biology.

Neural stem cells traffic functional mitochondria via extracellular vesicles to correct mitochondrial dysfunction in target cells

M. Zeviani, P. Lehner, Á. Kittel, 2020, bioRxiv.

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

M. Zeviani, D. Ghezzi, 2012, Advances in experimental medicine and biology.

Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.

M. Zeviani, I. Ferrero, C. Dallabona, 2006, Human molecular genetics.

SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype

V. Tiranti, M. Zeviani, A. Robinson, 2018, Biochimica et biophysica acta. Molecular basis of disease.

Opa1 Overexpression Ameliorates the Phenotype of Two Mitochondrial Disease Mouse Models

L. Scorrano, M. Zeviani, T. Varanita, 2015, Cell metabolism.

Partial tandem duplication of mtDNA–tRNAPhe impairs mtDNA translation in late-onset mitochondrial myopathy

M. Zeviani, P. Tonin, L. Morandi, 2012, Neuromuscular Disorders.

C HAPTER 4 Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequenze

M. Zeviani, A. Ferlini, P. Mereghetti, 2010 .

HAPTER 2 FASTKD 2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency

V. Tiranti, M. Zeviani, P. Gasparini, 2010 .

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

V. Tiranti, M. Zeviani, A. Berardinelli, 2009, BMJ Case Reports.

How Do Human Cells React to the Absence of Mitochondrial DNA?

N. Pavelka, P. Ricciardi-Castagnoli, V. Tiranti, 2009, PloS one.

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

M. Zeviani, A. Ferlini, D. Ghezzi, 2009, Human molecular genetics.

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

V. Tiranti, M. Zeviani, P. Gasparini, 2008, American journal of human genetics.

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

V. Tiranti, M. Zeviani, A. Berardinelli, 2006, Journal of Medical Genetics.

Clinical and Biochemical Studies on Cytochrome Oxidase Deficiencies a

S. Dimauro, E. Schon, M. Zeviani, 1988, Annals of the New York Academy of Sciences.

Mitochondria1 encephalomyopathy and partial cytochrome c oxidase deficiency

S. Dimauro, M. Zeviani, S. Servidei, 1987, Neurology.

Loss of function of the mitochondrial peptidase PITRM1 induces proteotoxic stress and Alzheimer’s disease-like pathology in human cerebral organoids

M. Zeviani, M. Jucker, S. Kaeser, 2020, Molecular psychiatry.

Transcription Factor EB Controls Metabolic Flexibility during Exercise

A. Ballabio, M. Zeviani, P. Saha, 2017, Cell metabolism.

Improved insulin sensitivity associated with reduced mitochondrial complex IV assembly and activity

M. Zeviani, Yun Shi, N. Musi, 2013, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

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

M. Zeviani, R. Rizzuto, B. Darras, 1988, Genomics.

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

V. Tiranti, M. Zeviani, F. Villani, 1991, The Lancet.

Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease.

V. Tiranti, M. Zeviani, D. Diodato, 2016, Brain : a journal of neurology.

Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.

V. Tiranti, M. Zeviani, 2013, Cold Spring Harbor perspectives in biology.

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

V. Tiranti, M. Zeviani, Tatjana M. Hildebrandt, 2010, Nature Medicine.

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

Massimo Zeviani, Rosario Rizzuto, M. Zeviani, 2007, Human molecular genetics.

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

Paolo Gasparini, Brigitte Vollmer, Massimo Zeviani, 2004, American journal of human genetics.

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

V. Tiranti, M. Zeviani, E. Lamantea, 2003, Human molecular genetics.

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

M. Zeviani, Jianguo Zhang, D. Ghezzi, 2012, Molecular genetics and metabolism.

Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals

F. Foury, V. Tiranti, M. Zeviani, 1999, European Journal of Human Genetics.

Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients.

S. Pääbo, V. Tiranti, M. Zeviani, 2000, Human molecular genetics.

Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation

G. Comi, M. Zeviani, M. Mancuso, 2013, Neurology.

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA

E. Bertini, M. Zeviani, P. Tonali, 1991, Neurology.

Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease.

N. Bresolin, M. Zeviani, C. Gellera, 1990, American journal of human genetics.

Neurological presentations of mitochondrial diseases

M. Zeviani, G. Uziel, B. Bertagnolio, 1996, Journal of Inherited Metabolic Disease.

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

M. Zeviani, C. Orssaud, A. Torroni, 2012, PloS one.

Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions

M. Zeviani, M. Protasoni, 2021, International journal of molecular sciences.

A SIRT7-dependent acetylation switch of GABPβ1 controls mitochondrial function.

J. Auwerx, M. Zeviani, D. Ryu, 2014, Cell metabolism.

Immunocytochemical study of nebulin in Duchenne muscular dystrophy

S. Dimauro, E. Schon, M. Zeviani, 1988, Neurology.

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

M. Zeviani, E. Lamantea, Ç. Kasapkara, 2017, Turkish journal of haematology : official journal of Turkish Society of Haematology.

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.

S. Dimauro, E. Schon, M. Zeviani, 1989, The New England journal of medicine.

Xenotopic expression of alternative oxidase (AOX) to study mechanisms of mitochondrial disease.

M. Zeviani, A. Moore, C. Viscomi, 2022, Biochimica et biophysica acta. Bioenergetics.

Mitochondrial disorders of the OXPHOS system

M. Zeviani, E. Fernández-Vizarra, 2020, FEBS letters.

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2009, European journal of neurology.

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

H. Smeets, M. Zeviani, P. Chinnery, 2007, Molecular vision.

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.

D. Le Paslier, D. Paslier, M. Zeviani, 1994, Science.

The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells

Robert W. Taylor, L. Frontali, M. Zeviani, 2014, EMBO molecular medicine.

CYTOCHROME c OXIDASE DEFICIENCY.

M. Zeviani, Michele Brischigliaro, 2020, Biochimica et biophysica acta. Bioenergetics.

Ataxia in mitochondrial disorders.

M. Zeviani, L. Bindoff, A. Simonati, 2012, Handbook of clinical neurology.

Mitochondrial DNA and OXPHOS Disorders

M. Zeviani, V. Carelli, 2004 .

A novel mutation (8342G→A) in the mitochondrial tRNALys gene associated with progressive external ophthalmoplegia and myoclonus

V. Tiranti, M. Zeviani, E. Lamantea, 1999, Neuromuscular Disorders.

A MERRF/MELAS Overlap Syndrome Associated with a New Point Mutation in the Mitochondrial DNA tRNALys Gene

N. Savarese, V. Tiranti, M. Zeviani, 1993, European journal of human genetics : EJHG.

Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

N. Bresolin, M. Zeviani, A. Toscano, 1991, American journal of human genetics.

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy

A. Bizzi, M. Zeviani, E. Lamantea, 2006, Neurology.

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

V. Tiranti, M. Zeviani, P. Girlanda, 1995, Human molecular genetics.

Molecular Diagnosis of Neurogenetic Disorders: Motoneuron, Peripheral Nerve and Muscle Disorders

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

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

M. Zeviani, J. Zidar, E. Lamantea, 2005, Human molecular genetics.

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

V. Tiranti, M. Zeviani, C. Godinot, 2001, Human mutation.

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

V. Tiranti, M. Zeviani, E. Fernández-Vizarra, 2009, Biochimica et biophysica acta.

Stroke due to mitochondrial disorders in Saudi children.

M. Zeviani, H. Hassan, M. Salih, 2006, Saudi medical journal.

Defects of Mitochondrial DNA

M. Zeviani, C. Antozzi, 1992, Brain pathology.

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

M. Zeviani, A. Reyes, A. Robinson, 2017, Journal of Medical Genetics.

A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.

V. Petruzzella, M. Zeviani, E. Lamantea, 2001, Human molecular genetics.

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

M. Zeviani, R. Flavell, Roberta Tammaro, 2019, EMBO molecular medicine.

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

G. Comi, C. Larsson, V. Tiranti, 2001, Nature Genetics.

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

G. Plant, M. Zeviani, K. Thangaraj, 2017, Neurology: Genetics.

Mitochondrial Disorders: Nuclear Gene Mutations

M. Zeviani, D. Ghezzi, 2011 .

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

M. Zeviani, W. Copeland, R. Bienstock, 2004, Nature Structural &Molecular Biology.

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

V. Tiranti, M. Zeviani, F. Fontanesi, 2004, Human molecular genetics.

The V368i mutation in Twinkle does not segregate with adPEO

V. Tiranti, M. Zeviani, J. Arenas, 2003, Annals of neurology.

Mitochondrial disorders

M. Zeviani, A. Spinazzola, 2001, Current neurology and neuroscience reports.

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

V. Tiranti, M. Zeviani, E. Lamantea, 2002, Annals of neurology.

A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family

G. Comi, V. Tiranti, M. Zeviani, 2001, Neurology.

A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia.

L. Peltonen, G. Comi, M. Zeviani, 1999, American journal of human genetics.

Screening for POLG W748S and A467T mutations in ataxia patients from Spain

M. Zeviani, M. Rodriguez-Oroz, V. Volpini, 2012, Movement disorders : official journal of the Movement Disorder Society.

Disorders of Nuclear-Mitochondrial Intergenomic Signalling

V. Petruzzella, R. Carrozzo, M. Zeviani, 1997, Journal of bioenergetics and biomembranes.

Searching for genes affecting the structural integrity of the mitochondrial genome.

G. Comi, V. Tiranti, M. Zeviani, 1995, Biochimica et biophysica acta.

Transthyretin

E. Schon, A. Dwork, M. Zeviani, 1986, Neurology.

Infantile mitochondrial encephalopathy.

M. Zeviani, G. Uziel, D. Ghezzi, 2011, Seminars in fetal & neonatal medicine.

Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids.

M. Zeviani, I. Holt, P. Moonie, 1996, Human molecular genetics.

Shy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast

L. Grivell, M. Zeviani, L. Nijtmans, 2001, FEBS letters.

Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB).

M. Rocchi, V. Tiranti, M. Zeviani, 1993, Gene.

MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

Robert W. Taylor, T. Strom, M. Zeviani, 2013, Human mutation.

Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency

M. Zeviani, N. Gregersen, J. Sloth, 2016, Proteomics.

NAD+-Dependent Activation of Sirt1 Corrects the Phenotype in a Mouse Model of Mitochondrial Disease

E. Schon, J. Auwerx, M. Zeviani, 2014, Cell metabolism.

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

V. Tiranti, M. Zeviani, A. Zvulunov, 2012, American journal of human genetics.

Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants.

V. Tiranti, M. Zeviani, E. Lamantea, 1995, Human molecular genetics.

2015 Scientific Meeting Faculty

Xiang-Dong Fu, Michael Glickman, Eric D. Green, 2015 .

A Novel Mutation in the SURF1 Gene in a Child With Leigh Disease, Peripheral Neuropathy, and Cytochrome-c Oxidase Deficiency

M. Zeviani, C. Bruno, R. Biancheri, 2002, Journal of child neurology.

Redefining phenotypes associated with mitochondrial DNA single deletion

G. Comi, M. Zeviani, M. Mancuso, 2015, Journal of Neurology.

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

E. Bertini, T. Meitinger, T. Strom, 2015, American journal of human genetics.

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

V. Mootha, D. Turnbull, M. Zeviani, 2013, Nature Reviews Neurology.

Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation.

Massimo Zeviani, Valeria Tiranti, V. Tiranti, 2005, Cell metabolism.

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

M. Zeviani, I. Fearnley, E. Fernández-Vizarra, 2017, Molecular cell.

Effects of riboflavin in children with complex II deficiency

Isabella Moroni, Alberto Bizzi, Massimo Zeviani, 2006, Brain and Development.

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

G. Comi, M. Zeviani, M. Mancuso, 2016, Neuromuscular Disorders.

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

Evan G. Williams, J. Auwerx, M. Zeviani, 2014, Cell metabolism.

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

M. Zeviani, P. Rehling, M. Dadlez, 2019, EMBO molecular medicine.

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

D. Horn, M. Zeviani, K. Kutsche, 2015, American journal of human genetics.

Nucleus-driven mutations of human mitochondrial DNA

M. Zeviani, 1992, Journal of Inherited Metabolic Disease.

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

M. Zeviani, E. Lamantea, P. Balestri, 2011 .

Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment

M. Zeviani, Z. Shah, H. Jacobs, 2005, European Journal of Human Genetics.

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

M. Zeviani, G. Uziel, L. Chiapparini, 2002, AJNR. American journal of neuroradiology.

Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster

M. Zeviani, R. Costa, I. Szabó, 2021, Journal of Molecular Medicine.

Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction

M. Zeviani, M. Zoratti, L. Biasutto, 2021, Nature Communications.

Utility of multimodal evoked potential study and electroencephalography in mitochondrial encephalomyopathy

M. Zeviani, G. Avanzini, F. Villani, 1998, The Italian Journal of Neurological Sciences.

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

E. Schon, M. Zeviani, R. Rizzuto, 1992, Gene.

Loss of function of the mitochondrial peptidase PITRM1 induces proteotoxic stress and Alzheimer’s disease-like pathology in human cerebral organoids

M. Zeviani, M. Jucker, S. Kaeser, 2020, bioRxiv.

Chapter 30 Mitochondrial disorders

M. Zeviani, 2004 .

Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene

C. Cremers, V. Tiranti, M. Zeviani, 1999, European Journal of Human Genetics.

Idebenone treatment in Leber's hereditary optic neuropathy.

Giovanni Rizzo, Agostino Baruzzi, Massimo Zeviani, 2011, Brain : a journal of neurology.

Subunit Va of human and bovine cytochrome c oxidase is highly conserved.

S. Dimauro, E. Schon, M. Zeviani, 1988, Gene.

Molecular Diagnosis of Neurogenetic Disorders: General Issues, Huntington's Disease, Parkinson's Disease and Dystonias

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias

J. Burgunder, J. Finsterer, M. Zeviani, 2009, European journal of neurology.

Loss of apoptosis-inducing factor critically affects MIA40 function

M. Zeviani, P. Nicotera, D. Ghezzi, 2015, Cell Death and Disease.

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

S. Dimauro, E. Schon, M. Zeviani, 1991, American journal of medical genetics.

Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation

V. Tiranti, M. Zeviani, Melike Ersoy, 2020, Molecular genetics and metabolism reports.

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.

M. Zeviani, B. Karlsen, L. Bindoff, 2008, Brain : a journal of neurology.

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

A. Bizzi, M. Zeviani, E. Lamantea, 2009, Brain : a journal of neurology.

Hereditary spastic paraplegia is a novel phenotype for GJA 12 / GJC 2 mutations

A. Bizzi, M. Zeviani, E. Lamantea, 2009 .

Genotypes from patients indicate no paternal mitochondrial DNA contribution

Robert W. Taylor, D. Turnbull, M. Zeviani, 2003, Annals of neurology.

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

M. Zeviani, D. Winge, E. Fernández-Vizarra, 2013, Biochimica et biophysica acta.

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease

M. Zeviani, D. Bozon, A. Echaniz-Laguna, 2013, Neurology.

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

M. Zeviani, E. Lamantea, R. Horvath, 2011, Mitochondrion.

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

M. Zeviani, E. Lamantea, M. Filosto, 2005, Brain : a journal of neurology.

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

Massimo Zeviani, Jan A Smeitink, D. Turnbull, 2006, Cell metabolism.

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

M. Zeviani, H. Jacobs, P. Rustin, 2009, Cell metabolism.

The relevance of migraine in the clinical spectrum of mitochondrial disorders

M. Zeviani, E. Pegoraro, L. Bello, 2022, Scientific Reports.

Single-stranded-DNA-binding proteins from human mitochondria and Escherichia coli have analogous physicochemical properties.

V. Tiranti, M. Zeviani, C. Urbanke, 1994, European journal of biochemistry.

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

Patrick F Chinnery, Massimo Zeviani, Rubens Belfort, 2007, American journal of human genetics.

Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database.

M. Rocchi, V. Tiranti, M. Zeviani, 1997, Human molecular genetics.

Mitochondrial complex III deficiency in a case of HCV related noninflammatory myopathy

M. Zeviani, R. Lodi, P. Cortelli, 2007, Journal of Neurology.

Defective PITRM 1 mitochondrial peptidase is associated with A amyloidotic neurodegeneration

M. Zeviani, S. Johansson, A. Reyes, 2015 .

A full-length cDNA encoding a mitochondrial DNA-specific single-stranded DNA binding protein from Xenopus laevis.

V. Tiranti, M. Zeviani, J. Bijl, 1991, Nucleic acids research.

Molecular Pathogenesis of Mitochondrial Diseases

M. Zeviani, C. Gellera, F. Taroni, 1995 .

The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase γ gene is not associated with oligozoospermia

M. Zeviani, G. Matullo, A. Brusco, 2006, Journal of endocrinological investigation.

Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

M. Zeviani, G. Uziel, A. Prelle, 1990, Annals of neurology.

Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy.

V. Tiranti, M. Zeviani, B. Dallapiccola, 1994, The Journal of clinical investigation.

Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes

M. Zeviani, C. Gellera, G. Uziel, 1990, Neurology.

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

M. Zeviani, E. Lamantea, G. Uziel, 2015, JIMD reports.

Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain

A. Munnich, G. Brown, M. Zeviani, 2001, Journal of Inherited Metabolic Disease.

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

M. Zeviani, A. Spinazzola, M. Hirano, 2008, Neuromuscular Disorders.

Respiratory chain and mitochondrial DNA in muscle and brain in Parkinson's disease patients

N. Savarese, M. Zeviani, C. Mariotti, 1993, Neurology.

Molecular Diagnosis of Ataxias and Spastic Paraplegias

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

J. Burgunder, J. Finsterer, M. Zeviani, 2010, European journal of neurology.

Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations

M. Zeviani, E. Lamantea, M. Dotti, 2002, Annals of neurology.

A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients

V. Tiranti, M. Zeviani, E. Lamantea, 2001, Annals of neurology.

Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.

M. Zeviani, F. Tort, A. Ribes, 2020, Molecular genetics and metabolism.

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

M. Zeviani, H. Prokisch, E. Lamantea, 2015, JIMD reports.

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

M. Zeviani, S. Furini, A. Renieri, 2016, Molecular genetics and metabolism.

ETHE1 mutations are specific to ethylmalonic encephalopathy

E. Papaleo, V. Tiranti, M. Zeviani, 2005, Journal of Medical Genetics.

Liver mtDNA content increases during development: a comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion.

J. Parr, N. Ashley, M. Zeviani, 2007, Mitochondrion.

Nuclear gene defects in mitochondrial disorders

V. Tiranti, M. Zeviani, L. Nijtmans, 1999, The Italian Journal of Neurological Sciences.

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

M. Zeviani, A. Reyes, A. Robinson, 2016, Journal of Medical Genetics.

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy

T. Walsh, M. King, M. Zeviani, 2018, Journal of Medical Genetics.

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

T. Meitinger, V. Tiranti, M. Zeviani, 2011, Journal of Medical Genetics.

A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly

M. Minczuk, E. Bertini, R. Carrozzo, 2020, Neurobiology of Disease.

MR-1S Interactswith PET100andPET117 inModule- Based Assembly of Human Cytochrome c Oxidase

Robert W. Taylor, V. Tiranti, M. Zeviani, 2017 .

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

P. Bénit, M. Zeviani, G. Kroemer, 2017, EBioMedicine.

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

G. Brown, M. Zeviani, F. Muntoni, 2011, Journal of Medical Genetics.

Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency

V. Tiranti, M. Zeviani, G. Uziel, 2005, Journal of Medical Genetics.

Severe early onset ethylmalonic encephalopathy with West syndrome

M. Zeviani, A. Spalice, V. Leuzzi, 2015, Metabolic Brain Disease.

New Splicing-site Mutations in the SURF1Gene in Leigh Syndrome Patients*

M. Zeviani, I. Desguerre, F. Fouque, 2001, The Journal of Biological Chemistry.

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

M. Zeviani, Tsutomu Suzuki, L. Valente, 2009, Biochimica et biophysica acta.

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

M. Zeviani, M. S. van der Knaap, E. Fernández-Vizarra, 2018, Journal of child neurology.

Cavitating leukoencephalopathy with posterior predominance caused by a deletion in the APOPT 1 gene in an Indian boy Running title : APOPT 1 gene pathogenic variant associated cavitating leukoencephalopathy

M. Zeviani, M. Knaap, E. Fernández-Vizarra, 2018 .

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.

M. Zeviani, E. Lamantea, C. Bruno, 2015, JIMD reports.

Benign reversible muscle cytochrome c oxidase deficiency

S. Dimauro, M. Zeviani, S. Servidei, 1987, Neurology.

Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases

G. Comi, M. Zeviani, M. Mancuso, 2012, Neuromuscular Disorders.

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

Massimo Zeviani, Rubens Belfort, Barbara Simionati, 2006, American journal of human genetics.

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

M. Zeviani, E. Lamantea, G. Uziel, 1997, Journal of neurology, neurosurgery, and psychiatry.

NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate

M. Zeviani, A. Porcelli, I. Fearnley, 2021, Cell reports.

Biogenesis of NDUFS3-less complex I indicates TMEM126A/OPA7 as an assembly factor of the ND4-module

M. Zeviani, A. Porcelli, I. Fearnley, 2020, bioRxiv.

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

E. Bertini, R. Carrozzo, M. Zeviani, 2016, Cell metabolism.

Disease-Causing SDHAF 1 Mutations Impair Transfer of FeS Clusters to SDHB Graphical Abstract Highlights

E. Bertini, R. Carrozzo, M. Zeviani, 2016 .

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

M. Zeviani, A. Pini, A. Baruzzi, 2002, Archives of neurology.

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

Robert W. Taylor, T. Wieland, A. Munnich, 2018, Orphanet Journal of Rare Diseases.

Structural rather than catalytic role for mitochondrial respiratory chain supercomplexes

M. Zeviani, E. Fernández-Vizarra, S. Arnold, 2023, bioRxiv.

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

E. Bertini, M. Zeviani, S. Seneca, 1998, Journal of Inherited Metabolic Disease.

Mitochondrial myopathies

M. Zeviani, A. Savoia, P. Amati, 1994, Annals of neurology.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network

M. Zeviani, H. Mandel, R. Lodi, 2020, Journal of inherited metabolic disease.

A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation

M. Zeviani, C. Lamperti, C. Ferrarese, 2013, Neurological Sciences.

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.

S. Leal, M. Zeviani, P. Striano, 2021, American journal of human genetics.

MELAS syndrome

M. Zeviani, E. Govoni, P. Montagna, 1988, Neurology.

DUPLEXING COMPLEXOME PROFILING WITH SILAC TO STUDY HUMAN RESPIRATORY CHAIN ASSEMBLY DEFECTS.

M. Minczuk, M. Zeviani, Petra Páleníková, 2021, Biochimica et biophysica acta. Bioenergetics.

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

M. Zeviani, Yun Shi, L. Sloane, 2014, The Biochemical journal.

MRI in Leigh syndrome with SURF1 gene mutation

M. Zeviani, G. Uziel, L. Farina, 2002, Annals of neurology.

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy (Nature Medicine DOI: 10.1038/nm.1907)

V. Tiranti, M. Zeviani, Tatjana M. Hildebrandt, 2009 .

Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNAIle homoplasmic mutation in the mitochondrial genome

Y. Kirino, H. Reichmann, M. Zeviani, 2004, Journal of Medical Genetics.

Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

M. Zeviani, A. Reyes, J. Prudent, 2020, Journal of Medical Genetics.

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

M. Zeviani, M. Mora, F. Carrara, 2004, Neuromuscular Disorders.

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

M. Zeviani, E. Lamantea, L. Morandi, 2016, Molecular genetics and metabolism reports.

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

M. Zeviani, P. Barboni, P. Chinnery, 2014 .

Effects of thyroid hormones on the biochemical specialization of human muscle fibers

M. Zeviani, R. Betto, Benedetto Busnardo, 1985, Muscle & nerve.

Is nebulin the defective gene product in Duchenne muscular dystrophy?

D. S. Wood, S. Dimauro, M. Zeviani, 1987, The New England journal of medicine.

Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant

M. Zeviani, Jianguo Zhang, D. Ghezzi, 2013, Orphanet Journal of Rare Diseases.

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

M. Zeviani, N. Nardocci, B. Garavaglia, 2002, Movement disorders : official journal of the Movement Disorder Society.

Post Transcriptional Silencing and Functional Characterization of the Drosophila Melanogaster Homolog of Human Surf1

M. Zeviani, C. Reggiani, M. Pegoraro, 2022 .

Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level

G. Comi, M. Zeviani, G. Scarlato, 1994, Acta Neuropathologica.

Decreased in vitro Mitochondrial Function is Associated with Enhanced Brain Metabolism, Blood Flow, and Memory in Surfl-Deficient Mice

P. Fox, T. Duong, M. Zeviani, 2013, Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism.

Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co-regulate proteasomes and mitochondria

R. Barker, M. Zeviani, H. Laman, 2021, bioRxiv.

Bilateral Putaminal Necrosis Associated With the Mitochondrial DNA A8344G Myoclonus Epilepsy With Ragged Red Fibers (MERRF) Mutation: An Infantile Case

M. Zeviani, S. Orcesi, A. Berardinelli, 2006, Journal of child neurology.

Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy

V. Tiranti, M. Zeviani, G. Guazzi, 1995, Journal of Neurology.

Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy

M. Zeviani, G. Guazzi, A. Malandrini, 1996, Acta Neuropathologica.

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

I. McKeith, M. Elstner, D. Turnbull, 2009, Annals of neurology.

Double administration of self-complementary AAV9NDUFS4 prevents Leigh disease in Ndufs4−/− mice

M. Zeviani, C. Viscomi, R. Cerutti, 2022, Brain : a journal of neurology.

The seventh European Meeting on Mitochondrial Pathology

D. Turnbull, M. Zeviani, 2009 .

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

M. Zeviani, E. Malfatti, A. Federico, 2009, European Journal of Human Genetics.

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

M. Zeviani, P. Chinnery, P. Yu-Wai-Man, 2011, Mitochondrion.

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

M. Zeviani, A. Reyes, A. Robinson, 2020, Neurology: Genetics.

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

P. Stanzione, A. Bentivoglio, M. Zeviani, 2006, Movement disorders : official journal of the Movement Disorder Society.

A novel mutation in the mitochondrial tRNAVal gene associated with a complex neurological presentation

V. Tiranti, M. Zeviani, P. Gasparini, 1998, Annals of neurology.

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

M. Zeviani, P. Chinnery, P. Yu-Wai-Man, 2009, Molecular vision.

Myoclonus epilepsy in mitochondrial disorders.

M. Zeviani, C. Lamperti, 2016, Epileptic disorders : international epilepsy journal with videotape.

Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome

J. Ganesh, M. Zeviani, Xiaoqi Q Ding, 2017 .

Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy.

M. Zeviani, M. Scarpelli, G. Polonara, 2009, Pediatric neurology.

Mitochondrial disorders

C. Piantadosi, V. Tiranti, M. Zeviani, 2001, Current opinion in neurology.

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

E. Bertini, R. Carrozzo, M. Zeviani, 2018, EMBO molecular medicine.

UCP4C mediates uncoupled respiration in larvae of Drosophila melanogaster

M. Zeviani, M. Zordan, R. Costa, 2014, EMBO reports.

Separation of intact pyruvate dehydrogenase complex using blue native agarose gel electrophoresis

M. Zeviani, J. Lindsay, L. Nijtmans, 2000, Electrophoresis.

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

M. Zeviani, M. Mora, A. Spinazzola, 2004, Neuromuscular Disorders.

PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients

M. Zeviani, F. Santorelli, M. Giacomello, 2023, Frontiers in pharmacology.

Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations

S. Dimauro, R. Carrozzo, M. Zeviani, 2007, Journal of Medical Genetics.

Mitochondrial Disorders

M. Zeviani, S. di Donato, 2021, Handbook of the Cerebellum and Cerebellar Disorders.

Mitochondrial Diseases

S. Dimauro, D. Turnbull, M. Zeviani, 2012, Journal of epilepsy research.

Mitochondrial disorders

S. Dimauro, M. Zeviani, V. Carelli, 1997, Japanese Journal of Human Genetics.

Ultrastructural analysis of extraocular muscle in chronic progressive external ophthalmoplegia.

M. Zeviani, A. Carta, F. Carrara, 2000, Archives of ophthalmology.

Nonalcoholic Fatty Liver

J. Utikal, S. Goerdt, M. Zeviani, 2018 .

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

M. Zeviani, S. Johansson, A. Reyes, 2015, EMBO molecular medicine.

Molecular Diagnosis of Channelopathies, Epilepsies, Migraine, Stroke and Dementias

J. Burgunder, J. Finsterer, M. Zeviani, 2011 .

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias

J. Finsterer, M. Zeviani, C. Broeckhoven, 2010, European journal of neurology.

Pharmacological Inhibition of Poly(ADP-Ribose) Polymerases Improves Fitness and Mitochondrial Function in Skeletal Muscle

Evan G. Williams, J. Auwerx, M. Zeviani, 2014 .

Severe Infantile Hypotonia With Ethylmalonic Aciduria: Case Report

V. Tiranti, M. Zeviani, G. Biberoğlu, 2008, Journal of child neurology.

Severe early onset ethylmalonic encephalopathy with West syndrome

M. Zeviani, A. Spalice, V. Leuzzi, 2015, Metabolic Brain Disease.

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

V. Tiranti, M. Zeviani, C. Godinot, 2001, Human mutation.

Deletions of mitochondrial DNA in Kearns‐Sayre syndrome

S. Dimauro, E. Schon, M. Zeviani, 1988, Neurology.

Inhibit Mitochondrial DNA Replication DNA Binding Protein To Promote Viral and Zta Co-Opts Mitochondrial Single-Stranded Epstein-Barr Virus Immediate-Early Protein

Lieberman, V. Tiranti, M. Zeviani, 2007 .

Post-transcriptional Silencing and Functional Characterization of the Drosophila melanogaster Homolog of Human Surf1

M. Zeviani, C. Reggiani, M. Pegoraro, 2006, Genetics.

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

V. Tiranti, M. Zeviani, E. Fernández-Vizarra, 2009, Biochimica et biophysica acta.

Idebenone treatment in Leber's hereditary optic neuropathy.

M. Zeviani, G. Rizzo, P. Barboni, 2011, Brain : a journal of neurology.

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

M. Baumgartner, T. Wieland, T. Meitinger, 2012, American journal of human genetics.

Phenylbutyrate Therapy for Pyruvate Dehydrogenase Complex Deficiency and Lactic Acidosis

M. Zeviani, R. Ferriero, N. Brunetti‐Pierri, 2013, Science Translational Medicine.

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

Evan G. Williams, J. Auwerx, M. Zeviani, 2014, Cell metabolism.

Structural rather than catalytic role for mitochondrial respiratory chain supercomplexes

M. Zeviani, E. Fernández-Vizarra, S. Arnold, 2023, bioRxiv.

64 Systematic identification of human mitochondrial disease genes through integrative genomics

S. Carr, V. Mootha, M. Zeviani, 2007 .

CYTOCHROME c OXIDASE DEFICIENCY.

M. Zeviani, Michele Brischigliaro, 2020, Biochimica et biophysica acta. Bioenergetics.

A de novo mutation in mitochondrial ATPsynthase subunit α causes a life threatening disease in neonates which heals in infancy

M. Zeviani, 2021, European Journal of Human Genetics.

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.

M. Zeviani, B. Karlsen, L. Bindoff, 2008, Brain : a journal of neurology.

International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy

M. Zeviani, H. Prokisch, M. Mancuso, 2017, Neuromuscular Disorders.

NIACIN DEFICIENCY

J. Utikal, S. Goerdt, M. Zeviani, 1952 .

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

A. Bizzi, M. Zeviani, E. Lamantea, 2009, Brain : a journal of neurology.

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

G. Comi, M. Zeviani, M. Mancuso, 2016, Neuromuscular Disorders.

AJHG The American Journal of Human Genetics Biallelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

S. Leal, M. Zeviani, P. Striano, 2021 .

Idebenone treatment in patients with OPA1-mutant dominant optic atrophy.

M. Zeviani, G. Savini, P. Barboni, 2013, Brain : a journal of neurology.

Neuromuscular syndrome associated with the 3291T→C mutation of mitochondrial DNA: a second case

M. Zeviani, E. Lamantea, G. Uziel, 2000, Neuromuscular Disorders.

SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype

V. Tiranti, M. Zeviani, C. Gallia, 2018, Biochimica et biophysica acta. Molecular basis of disease.