Massimo Zeviani
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Massimo Zeviani's Degrees
- Bachelors Biology University of Milan
- Masters Genetics University of Milan
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(Suggest an Edit or Addition)Massimo Zeviani's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Identification and characterization of a spinal muscular atrophy-determining gene (1995) (3385)
- Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. (1989) (963)
- Mitochondrial diseases. (1989) (868)
- Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria (2001) (835)
- Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease (1998) (770)
- Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation. (2005) (719)
- An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region (1989) (632)
- Role of adenine nucleotide translocator 1 in mtDNA maintenance. (2000) (609)
- Mitochondrial diseases (2016) (588)
- A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. (1989) (546)
- Mitochondrial disorders. (2004) (516)
- Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. (1998) (512)
- Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. (1998) (497)
- Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. (1997) (471)
- The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. (2004) (458)
- Deletions of mitochondrial DNA in Kearns‐Sayre syndrome (1988) (450)
- MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion (2006) (397)
- Cytochrome c oxidase deficiency in leigh syndrome (1987) (393)
- Multi-system neurological disease is common in patients with OPA1 mutations (2010) (384)
- Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR) (1991) (381)
- Systematic identification of human mitochondrial disease genes through integrative genomics (2006) (368)
- Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. (2007) (344)
- Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy (2009) (341)
- Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary (2006) (329)
- The Opa1-Dependent Mitochondrial Cristae Remodeling Pathway Controls Atrophic, Apoptotic, and Ischemic Tissue Damage (2015) (327)
- De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. (1994) (319)
- The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. (2006) (319)
- Transthyretin: A choroid plexus‐specific transport protein in human brain The 1986 S. Weir Mitchell Award (1986) (305)
- Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. (2005) (305)
- NAD+-Dependent Activation of Sirt1 Corrects the Phenotype in a Mouse Model of Mitochondrial Disease (2014) (294)
- Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice. (2007) (275)
- Mitochondrial encephalomyopathies. (1989) (268)
- Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia (2002) (265)
- In Vivo Correction of COX Deficiency by Activation of the AMPK/PGC-1α Axis (2011) (263)
- Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations (2005) (262)
- Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. (2006) (261)
- Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency (2010) (259)
- Clinical and molecular findings in children with complex I deficiency. (2004) (255)
- Cytochrome c Oxidase subunit I microdeletion in a patient with motor neuron disease (1998) (248)
- An autosomal locus predisposing to deletions of mitochondrial DNA (1995) (245)
- SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy (2009) (242)
- Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy (2013) (233)
- Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. (2006) (223)
- Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database. (1997) (219)
- Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects. (2009) (218)
- Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. (1995) (214)
- Transcription Factor EB Controls Metabolic Flexibility during Exercise (2017) (214)
- Pharmacological Inhibition of poly(ADP-ribose) polymerases improves fitness and mitochondrial function in skeletal muscle. (2014) (213)
- Idebenone treatment in Leber's hereditary optic neuropathy. (2011) (210)
- A SIRT7-dependent acetylation switch of GABPβ1 controls mitochondrial function. (2014) (203)
- Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. (2004) (202)
- Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. (2012) (201)
- Risk of developing a mitochondrial DNA deletion disorder (2004) (200)
- Evidence that nebulin is a protein‐ruler in muscle thin filaments (1991) (191)
- Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians (2005) (190)
- Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. (2005) (189)
- Opa1 Overexpression Ameliorates the Phenotype of Two Mitochondrial Disease Mouse Models (2015) (187)
- Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. (2012) (187)
- Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. (2006) (187)
- Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. (2007) (185)
- Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. (2010) (185)
- Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. (2008) (183)
- Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing (2012) (180)
- Clinical and molecular features of mitochondrial DNA depletion syndromes (2009) (179)
- Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. (2005) (178)
- Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo (2018) (177)
- Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. (2012) (170)
- Isolation of mitochondria for biogenetical studies: An update. (2010) (165)
- Novel (ovario) leukodystrophy related to AARS2 mutations (2014) (165)
- Fatal infantile cytochrome c oxidase deficiency (1985) (165)
- Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. (2007) (162)
- POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. (2008) (159)
- Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation (2013) (158)
- Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. (1990) (157)
- Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies (2011) (156)
- Expression of the Ciona intestinalis alternative oxidase (AOX) in Drosophila complements defects in mitochondrial oxidative phosphorylation. (2009) (155)
- New treatments for mitochondrial disease—no time to drop our standards (2013) (155)
- A MERRF/MELAS Overlap Syndrome Associated with a New Point Mutation in the Mitochondrial DNA tRNALys Gene (1993) (154)
- Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO) (2003) (154)
- Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis (2002) (151)
- Epileptic phenotypes associated with mitochondrial disorders (2001) (151)
- Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions. (1999) (147)
- Dysfunctions of Cellular Oxidative Metabolism in Patients with Mutations in the NDUFS1 and NDUFS4 Genes of Complex I* (2006) (146)
- Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families (1997) (145)
- Syndromic parkinsonism and dementia associated with OPA 1 missense mutations (2015) (144)
- Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. (1998) (143)
- Human mitochondrial complex I assembly is mediated by NDUFAF1 (2005) (142)
- FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders (2016) (140)
- 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. (2001) (139)
- Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia (2004) (138)
- MELAS syndrome (1988) (137)
- Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA (1991) (136)
- Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. (2016) (134)
- Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy (2010) (134)
- Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology. (2012) (133)
- Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria (2001) (133)
- Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system. (1997) (132)
- Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. (2007) (129)
- Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). (1991) (129)
- Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. (2013) (128)
- Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. (2009) (124)
- MtDNA-maintenance defects: syndromes and genes (2017) (123)
- Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. (2012) (123)
- Loss‐of‐function mutations of SURF‐1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency (1999) (121)
- 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. (2000) (121)
- Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB). (1993) (121)
- Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. (2014) (119)
- Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment (2005) (118)
- An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. (1996) (118)
- Disorders of nuclear-mitochondrial intergenomic signaling. (2005) (117)
- Nuclear gene mutations as the cause of mitochondrial complex III deficiency (2015) (115)
- The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? (2014) (112)
- Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids. (1996) (111)
- Nuclear genes in mitochondrial disorders. (2003) (110)
- Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. (2012) (109)
- FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. (2008) (107)
- A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients (2001) (106)
- Emerging concepts in the therapy of mitochondrial disease. (2015) (104)
- GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy (2006) (104)
- Single-stranded-DNA-binding proteins from human mitochondria and Escherichia coli have analogous physicochemical properties. (1994) (101)
- Myoclonic epilepsy and ragged‐red fibers with cytochrome oxidase deficiency: Neuropathology, biochemistry, and molecular genetics (1989) (100)
- Respiratory chain and mitochondrial DNA in muscle and brain in Parkinson's disease patients (1993) (100)
- Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice (2008) (100)
- Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies (1990) (98)
- Isolation of a cDNA clone encoding subunit IV of human cytochrome c oxidase. (1987) (97)
- MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations. (2002) (96)
- Benign reversible muscle cytochrome c oxidase deficiency (1987) (95)
- Mitochondrial disorders. (2003) (95)
- Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency (2001) (93)
- Genotypes from patients indicate no paternal mitochondrial DNA contribution (2003) (93)
- RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. (2015) (92)
- A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family (2001) (92)
- Myofibrillar-protein isoforms and sarcoplasmic-reticulum Ca2+-transport activity of single human muscle fibres. (1984) (91)
- A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III (2002) (91)
- Depletion of mtDNA: syndromes and genes. (2007) (90)
- Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells (2012) (90)
- 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. (1995) (90)
- New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies. (2016) (89)
- Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes (1990) (88)
- Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. (2000) (88)
- Complex IV-deficient Surf1(-/-) mice initiate mitochondrial stress responses. (2014) (88)
- Respiratory supercomplexes act as a platform for complex III‐mediated maturation of human mitochondrial complexes I and IV (2020) (87)
- Peripheral neuropathy in mitochondrial disorders (2013) (86)
- Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA) (2009) (86)
- Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: Immunological studies in a new patient (1985) (85)
- Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes. (2005) (85)
- Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9 (2011) (85)
- Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy. (2011) (84)
- VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies (2014) (84)
- Identification of novel mutations in five patients with mitochondrial encephalomyopathy. (2009) (84)
- ETHE1 mutations are specific to ethylmalonic encephalopathy (2005) (83)
- Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho degrees transformants. (1995) (82)
- Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy. (1994) (82)
- Carnitine in muscle, serum, and urine of nonprofessional athletes: Effects of physical exercise, training, and L‐carnitine administration (1991) (81)
- Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice. (2003) (81)
- Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. (2006) (81)
- Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability. (2004) (81)
- LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells. (2013) (77)
- MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase. (2017) (77)
- Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy (2012) (77)
- PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum (2008) (77)
- Effects of riboflavin in children with complex II deficiency (2006) (77)
- Shy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast (2001) (76)
- Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene (1999) (76)
- MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast (2013) (75)
- Neuronal complex I deficiency occurs throughout the Parkinson’s disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage (2018) (75)
- 155th ENMC workshop: Polymerase gamma and disorders of mitochondrial DNA synthesis, 21–23 September 2007, Naarden, The Netherlands (2008) (75)
- Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis (2018) (75)
- COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency (2015) (73)
- Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. (2013) (73)
- Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy (2012) (73)
- Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB. (2016) (72)
- Cardiomyopathies in disorders of oxidative metabolism. (1997) (72)
- Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. (2009) (72)
- Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA (1995) (72)
- Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations (2017) (71)
- Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. (2010) (71)
- An international classification of inherited metabolic disorders (ICIMD) (2020) (71)
- A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome (2003) (70)
- EFNS guidelines on the molecular diagnosis of mitochondrial disorders (2009) (70)
- Human diseases associated with defects in assembly of OXPHOS complexes (2018) (69)
- Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency (2005) (69)
- Redefining phenotypes associated with mitochondrial DNA single deletion (2015) (69)
- Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation. (2002) (69)
- Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. (2008) (69)
- Loss of apoptosis-inducing factor critically affects MIA40 function (2015) (68)
- Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA) (2006) (68)
- Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency. (1986) (68)
- Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator. (2010) (67)
- Disorders from perturbations of nuclear‐mitochondrial intergenomic cross‐talk (2009) (67)
- Cytochrome Oxidase Deficiency: Clinical and Biochemical Heterogeneity a (1986) (66)
- Mitochondrial disorders of the OXPHOS system (2020) (66)
- Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome. (2015) (64)
- Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy (2018) (64)
- A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. (1999) (63)
- Phenylbutyrate Therapy for Pyruvate Dehydrogenase Complex Deficiency and Lactic Acidosis (2013) (63)
- A Homozygous Mutation in LYRM7/MZM1L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity (2013) (62)
- Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene (1998) (62)
- Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy (2008) (62)
- Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease (2011) (61)
- Neurological presentations of mitochondrial diseases (1996) (61)
- Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency (2014) (61)
- OPA1 mutations associated with dominant optic atrophy influence optic nerve head size. (2010) (61)
- Disorders of Nuclear-Mitochondrial Intergenomic Communication (2007) (61)
- Evolution Meets Disease: Penetrance and Functional Epistasis of Mitochondrial tRNA Mutations (2011) (60)
- Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease. (2016) (60)
- Single‐cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene (2009) (60)
- Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations (2008) (59)
- Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE. (2014) (59)
- Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck (2016) (59)
- Epstein-Barr Virus Immediate-Early Protein Zta Co-Opts Mitochondrial Single-Stranded DNA Binding Protein To Promote Viral and Inhibit Mitochondrial DNA Replication (2008) (58)
- EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias (2009) (56)
- 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. (2007) (56)
- Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome (2017) (56)
- A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome. (1997) (55)
- Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations (2001) (55)
- Neural stem cells traffic functional mitochondria via extracellular vesicles (2021) (54)
- Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation. (2014) (54)
- TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III. (2017) (54)
- POLG1 in idiopathic Parkinson disease (2006) (54)
- Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids. (1999) (53)
- Reduced mitochondrial Ca2+ transients stimulate autophagy in human fibroblasts carrying the 13514A>G mutation of the ND5 subunit of NADH dehydrogenase (2015) (53)
- Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7 (2019) (53)
- Impaired Mitochondrial ATP Production Downregulates Wnt Signaling via ER Stress Induction. (2019) (52)
- EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias (2010) (51)
- SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease (2013) (51)
- Faculty Opinions recommendation of Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity. (2009) (51)
- Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism (2008) (51)
- Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration (2015) (50)
- Post-transcriptional Silencing and Functional Characterization of the Drosophila melanogaster Homolog of Human Surf1 (2006) (50)
- Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? (2018) (50)
- Mitochondrial complex III Rieske Fe-S protein processing and assembly (2018) (49)
- Order of six loci at 2q24-q31 and orientation of the HOXD locus. (1994) (49)
- miR‐181a/b downregulation exerts a protective action on mitochondrial disease models (2019) (49)
- Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations (2002) (49)
- EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders (2011) (48)
- Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations (2014) (48)
- Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances. (2007) (48)
- Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients. (2009) (47)
- RNase H1 directs origin-specific initiation of DNA replication in human mitochondria (2019) (47)
- Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNAIle homoplasmic mutation in the mitochondrial genome (2004) (47)
- A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNALys gene associated with myoclonus epilepsy with ragged-red fibers (1999) (46)
- Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). (2009) (45)
- Mitochondrial myopathies (1987) (45)
- Mitochondrial myopathy due to complex III deficiency with normal reducible cytochrome b concentration. (1986) (45)
- AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome (2017) (45)
- The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells (2014) (44)
- Defects of Mitochondrial DNA (1992) (44)
- International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy (2017) (44)
- Foxg1 localizes to mitochondria and coordinates cell differentiation and bioenergetics (2015) (44)
- X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant. (1996) (43)
- Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations. (2011) (43)
- Loss of function of the mitochondrial peptidase PITRM1 induces proteotoxic stress and Alzheimer’s disease-like pathology in human cerebral organoids (2020) (42)
- Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions (2021) (42)
- Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals (1999) (41)
- OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape. (2008) (41)
- Transthyretin (1986) (41)
- Molecular defects in cytochrome oxidase in mitochondrial diseases (1988) (41)
- Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia (2017) (40)
- Sequence of cDNAs encoding subunit Vb of human and bovine cytochrome c oxidase. (1988) (40)
- AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure. (2014) (40)
- OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy (1995) (40)
- Infantile mitochondrial encephalopathy. (2011) (39)
- Subunit Va of human and bovine cytochrome c oxidase is highly conserved. (1988) (39)
- “Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network (2016) (38)
- The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase γ gene is not associated with oligozoospermia (2006) (38)
- Ataxia in mitochondrial disorders. (2012) (38)
- Instability of mitochondrial DNA and MRI and clinical correlations in malignant gliomas (2005) (38)
- A novel homozygous mutation in SUCLA2 gene identified by exome sequencing (2012) (38)
- Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy. (2013) (38)
- Frequency of DYT1 mutation in early onset primary dystonia in Italian patients (2002) (37)
- McArdle's disease: Biochemical and molecular genetic studies (1988) (37)
- A novel mutation (8342G→A) in the mitochondrial tRNALys gene associated with progressive external ophthalmoplegia and myoclonus (1999) (37)
- COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency (2016) (37)
- How Do Human Cells React to the Absence of Mitochondrial DNA? (2009) (37)
- Strategies for fighting mitochondrial diseases (2020) (37)
- A novel mutation in the mitochondrial tRNAVal gene associated with a complex neurological presentation (1998) (37)
- Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases (2012) (36)
- Demonstration and characterization of anti-human mitochondria autoantibodies in idiopathic hypoparathyroidism and in other conditions. (1985) (36)
- Decreased in vitro Mitochondrial Function is Associated with Enhanced Brain Metabolism, Blood Flow, and Memory in Surfl-Deficient Mice (2013) (36)
- Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase. (1992) (36)
- Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy (2012) (36)
- Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy (1996) (35)
- Myoclonus in mitochondrial disorders (2014) (35)
- Cytochrome c oxidase deficiency. (1985) (34)
- A Novel Mutation in the SURF1 Gene in a Child With Leigh Disease, Peripheral Neuropathy, and Cytochrome-c Oxidase Deficiency (2002) (34)
- The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes (2013) (34)
- Separation of intact pyruvate dehydrogenase complex using blue native agarose gel electrophoresis (2000) (33)
- The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy. (1999) (33)
- Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy (2008) (33)
- Oxidative phosphorylation dysfunction does not increase the rate of accumulation of age-related mtDNA deletions in skeletal muscle. (1997) (32)
- Deletions of mitochondrial DNA in Kearns-Sayre syndrome (1998) (32)
- GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations (2004) (32)
- A full-length cDNA encoding a mitochondrial DNA-specific single-stranded DNA binding protein from Xenopus laevis. (1991) (32)
- Mitochondria1 encephalomyopathy and partial cytochrome c oxidase deficiency (1987) (32)
- Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population (2008) (31)
- Ultrastructural analysis of extraocular muscle in chronic progressive external ophthalmoplegia. (2000) (31)
- Improved insulin sensitivity associated with reduced mitochondrial complex IV assembly and activity (2013) (31)
- Epilepsy in Mitochondrial Disorders (2011) (30)
- Characterization and expression of the mouse endonuclease G gene. (1997) (30)
- Zidovudine Administration during Pregnancy and Mitochondrial Disease in the offspring (2005) (29)
- A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency (2009) (29)
- UCP4C mediates uncoupled respiration in larvae of Drosophila melanogaster (2014) (29)
- Mitochondrial diseases: a cross-talk between mitochondrial and nuclear genomes. (2009) (29)
- Searching for genes affecting the structural integrity of the mitochondrial genome. (1995) (29)
- Cloning and expression of human nebulin cDNAs and assignment of the gene to chromosome 2q31-q32. (1988) (28)
- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network (2020) (28)
- Mitochondrial dementia: A sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation (2011) (28)
- Proteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modifications (2013) (28)
- Revisiting mitochondrial ocular myopathies: a study from the Italian Network (2017) (28)
- X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy. (2007) (27)
- Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy. (2015) (27)
- Nuclear gene defects in mitochondrial disorders (1999) (27)
- The expanding spectrum of nuclear gene mutations in mitochondrial disorders. (2001) (26)
- Epilepsia partialis continua associated with NADH-coenzyme Q reductase deficiency (1995) (26)
- New Splicing-site Mutations in the SURF1Gene in Leigh Syndrome Patients* (2001) (26)
- Mutations in TIMM50 compromise cell survival in OxPhos‐dependent metabolic conditions (2018) (26)
- Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases (1993) (26)
- Effects of thyroid hormones on the biochemical specialization of human muscle fibers (1985) (25)
- Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene (2004) (25)
- CYTOCHROME c OXIDASE DEFICIENCY. (2020) (25)
- Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. (2011) (25)
- A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy (2015) (25)
- Sequence analysis of familial PEO shows additional mutations associated with the 752C→T and 3527C→T changes in the POLG1 gene (2004) (25)
- Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy. (2018) (24)
- Bilateral Putaminal Necrosis Associated With the Mitochondrial DNA A8344G Myoclonus Epilepsy With Ragged Red Fibers (MERRF) Mutation: An Infantile Case (2006) (24)
- A Single Intravenous Injection of AAV-PHP.B-hNDUFS4 Ameliorates the Phenotype of Ndufs4−/− Mice (2020) (23)
- Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: A morphological, biochemical and molecular-genetic study (1995) (23)
- Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease (2006) (23)
- The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex. (2009) (23)
- MRI in Leigh syndrome with SURF1 gene mutation (2002) (23)
- A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy (2017) (23)
- ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy (2020) (22)
- A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL (2018) (22)
- Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy (2018) (22)
- Biochemical and molecular aspects of cytochrome C oxidase deficiency. (1988) (22)
- Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects (2016) (22)
- Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant (2013) (22)
- Disorders of Nuclear-Mitochondrial Intergenomic Signalling (1997) (22)
- EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias (2010) (21)
- Disorders of mitochondria and related metabolism. (1997) (21)
- Myoclonus epilepsy in mitochondrial disorders. (2016) (21)
- Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction (2001) (21)
- EFNS task force on molecular diagnosis of neurologic disorders Guidelines for the molecular diagnosis of inherited neurologic diseases First of two parts (2001) (21)
- 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. (2015) (21)
- A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient. (1998) (21)
- Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap (1996) (21)
- Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome Due to Mutation in MPV17 Gene (2012) (21)
- Mitochondrial disorders. (1998) (20)
- Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients (2019) (20)
- Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk. (2009) (20)
- Evidence of Linkage between Susceptibility to Multiple Sclerosis and HLA-Class II Loci in Italian Multiplex Families (1995) (20)
- Down-regulation of the mitochondrial aspartate-glutamate carrier isoform 1 AGC1 inhibits proliferation and N-acetylaspartate synthesis in Neuro2A cells. (2017) (20)
- Mitochondrial myopathies (1994) (20)
- A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly (2020) (20)
- Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene. (2016) (20)
- A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature. (2015) (20)
- Immunocytochemical study of nebulin in Duchenne muscular dystrophy (1988) (19)
- Loss of function of the mitochondrial peptidase PITRM1 induces proteotoxic stress and Alzheimer’s disease-like pathology in human cerebral organoids (2020) (19)
- Train, train, train! No pain, just gain. (2008) (19)
- SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype (2018) (19)
- Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features (2020) (19)
- The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe. (2006) (19)
- MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I (2012) (18)
- Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son (2003) (18)
- Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry? (1991) (18)
- NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy (2002) (18)
- Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations (2020) (18)
- Hereditary spastic paraplegia is a novel phenotype for GJA 12 / GJC 2 mutations (2009) (18)
- Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations (2007) (18)
- Long-term sustained effect of liver-targeted AAV gene therapy for MNGIE (2017) (18)
- Neuromuscular syndrome associated with the 3291T→C mutation of mitochondrial DNA: a second case (2000) (17)
- Devic’s neuromyelitis optica and mitochondrial DNA mutation: a case report (2004) (17)
- Clinical and Biochemical Studies on Cytochrome Oxidase Deficiencies a (1988) (17)
- Mitochondrial Neurodegeneration (2022) (17)
- Neurological disorders due to mutations of the mitochondrial genome (1991) (17)
- Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease (2017) (17)
- DUPLEXING COMPLEXOME PROFILING WITH SILAC TO STUDY HUMAN RESPIRATORY CHAIN ASSEMBLY DEFECTS. (2021) (16)
- Chapter 30 Mitochondrial disorders (2004) (16)
- Is nebulin the defective gene product in Duchenne muscular dystrophy? (1987) (15)
- PGD for the m.14487 T>C mitochondrial DNA mutation resulted in the birth of a healthy boy (2017) (15)
- Severe early onset ethylmalonic encephalopathy with West syndrome (2015) (15)
- SILAC-based complexome profiling dissects the structural organization of the human respiratory supercomplexes in SCAFIKO cells. (2021) (15)
- APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS (2018) (15)
- Stroke due to mitochondrial disorders in Saudi children. (2006) (15)
- Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians (2008) (14)
- Leigh Syndrome in Drosophila melanogaster (2014) (14)
- Loss of COX4I1 Leads to Combined Respiratory Chain Deficiency and Impaired Mitochondrial Protein Synthesis (2021) (13)
- Mitochondrial disorders. (1997) (13)
- Compound Heterozygous Missense and Deep Intronic Variants in NDUFAF6 Unraveled by Exome Sequencing and mRNA Analysis (2018) (13)
- A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction. (2015) (13)
- Knockdown of APOPT1/COA8 Causes Cytochrome c Oxidase Deficiency, Neuromuscular Impairment, and Reduced Resistance to Oxidative Stress in Drosophila melanogaster (2019) (13)
- Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients. (2016) (12)
- Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy (2018) (12)
- Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration (2021) (12)
- Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency (2016) (12)
- A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation (2013) (12)
- Nucleus-driven mutations of human mitochondrial DNA (1992) (12)
- Unravelling the Effects of the Mutation m.3571insC/MT-ND1 on Respiratory Complexes Structural Organization (2018) (12)
- Functional Characterization of drim2, the Drosophila melanogaster Homolog of the Yeast Mitochondrial Deoxynucleotide Transporter* (2014) (11)
- Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation (2017) (11)
- Mitochondrial disorders (2007) (11)
- Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction (2021) (11)
- Mutations in APOPT 1 , Encoding a Mitochondrial Protein , Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency (2017) (11)
- The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy (2003) (11)
- The gene (NFE2L1) for human NRF-1, an activator involved in nuclear-mitochondrial interactions, maps to 7q32. (1995) (11)
- Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain (2001) (11)
- Paradoxical Inhibition of Glycolysis by Pioglitazone Opposes the Mitochondriopathy Caused by AIF Deficiency (2017) (11)
- Mitochondrial Retinopathies (2021) (11)
- Utility of multimodal evoked potential study and electroencephalography in mitochondrial encephalomyopathy (1998) (11)
- EFNS task force on molecular diagnosis of neurologic disorders Guidelines for the molecular diagnosis of inherited neurologic diseases Second of two parts (2001) (11)
- The V368i mutation in Twinkle does not segregate with adPEO (2003) (10)
- NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate (2021) (10)
- Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G→A mitochondrial DNA mutation (2004) (10)
- Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy (2010) (10)
- Accelerated cardiomyopathy in maternally inherited diabetes and deafness. (2004) (10)
- Functional outcome of children with mitochondrial diseases. (2011) (10)
- The myelin basic protein gene is not a major susceptibility locus for multiple sclerosis in Italian patients (1994) (10)
- Leigh syndrome transmitted by uniparental disomy of chromosome 9 (1999) (10)
- Blue-Native Electrophoresis to Study the OXPHOS Complexes. (2021) (9)
- Mitochondrial myopathies (1985) (9)
- DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion (2021) (9)
- RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome assembly through their interaction with GTPases (2020) (9)
- Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement. (2019) (9)
- RNase H1 Regulates Mitochondrial Transcription and Translation via the Degradation of 7S RNA (2020) (9)
- A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation (2017) (9)
- Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation (2020) (9)
- Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy. (2009) (9)
- LBSL (leukoencephalopathy with brain stem and spinal cord involvement and high lactate) without sparing of the u-fibers and globi pallidi: A case report (2011) (8)
- Mitochondrial Matchmaking. (2016) (8)
- MR-1S Interactswith PET100andPET117 inModule- Based Assembly of Human Cytochrome c Oxidase (2017) (8)
- Hypoxic and hypercapnic challenges unveil respiratory vulnerability of Surf1 knockout mice, an animal model of Leigh syndrome. (2011) (8)
- Severe Infantile Hypotonia With Ethylmalonic Aciduria: Case Report (2008) (8)
- Remarkable recovery of visual function in a patient with Leber's optic neuropathy and multiple mutations of mitochondrial DNA. (1994) (7)
- Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber’s hereditary optic neuropathy (2009) (7)
- Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. (2021) (7)
- Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level (1994) (7)
- SURF 1 deficiency causes demyelinating Charcot-Marie-Tooth disease (7)
- Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations (2015) (7)
- Effects of pirenzepine on plasma insulin, glucagon and pancreatic polypeptide levels in normal man (2004) (6)
- Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy (Nature Medicine DOI: 10.1038/nm.1907) (2009) (6)
- Mitochondrial Diseases in Childhood. (2014) (6)
- 64 Systematic identification of human mitochondrial disease genes through integrative genomics (2007) (6)
- Mitochondrial Disorders: Nuclear Gene Mutations (2011) (6)
- Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene (2016) (6)
- Adult-onset leukodystrophies from respiratory chain disorders: do they exist? (2013) (6)
- Disease-Causing SDHAF 1 Mutations Impair Transfer of FeS Clusters to SDHB Graphical Abstract Highlights (2016) (6)
- NIACIN DEFICIENCY (1952) (5)
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- Lactic Acidosis in a Newborn With Adrenal Calcifications (2009) (5)
- Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster (2021) (5)
- Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON (2011) (5)
- Defective PITRM 1 mitochondrial peptidase is associated with A b amyloidotic neurodegeneration (2015) (5)
- Mitochondrial disorders. (2021) (4)
- Opa1 Overexpression Protects from Early-Onset Mpv17−/−-Related Mouse Kidney Disease (2020) (4)
- CG7630 is the Drosophila melanogaster homolog of the cytochrome c oxidase subunit COX7B (2022) (4)
- DNA microarrays as a method to monitor changes in mitochondria-related gene expression in patients with OXPHOS defects and/or mitochondrial cardiomyopathy (2001) (4)
- Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations (2020) (4)
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- The relevance of migraine in the clinical spectrum of mitochondrial disorders (2022) (4)
- Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution. (2020) (4)
- Dominance in mitochondrial disorders (2005) (4)
- Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients (1996) (3)
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- Screening for POLG W748S and A467T mutations in ataxia patients from Spain (2012) (3)
- Two independent respiratory chains adapt OXPHOS performance to glycolytic switch. (2022) (3)
- Deletions of mitochondrial DNA in Kearns-Sayre syndrome (2011) (3)
- Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3 (2021) (3)
- Deletions of mitochondrial DNA in Kearns‐Sayre syndrome (1988) (3)
- Neural stem cells traffic functional mitochondria via extracellular vesicles to correct mitochondrial dysfunction in target cells (2020) (3)
- Opa1 overexpression protects from early onset Mpv17-/--related mouse kidney disease (2020) (2)
- OPAI mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Commentary (2008) (2)
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- Mitochondrial complex III deficiency in a case of HCV related noninflammatory myopathy (2007) (2)
- Mitochondrial disorders (2001) (2)
- Metabolic and Mitochondrial Ataxias (2003) (2)
- Molecular Pathogenesis of Mitochondrial Diseases (1995) (2)
- Mitochondrial Cytochrome c Oxidase Defects Alter Cellular Homeostasis of Transition Metals (2022) (2)
- Biogenesis of NDUFS3-less complex I indicates TMEM126A/OPA7 as an assembly factor of the ND4-module (2020) (2)
- Partial tandem duplication of mtDNA–tRNAPhe impairs mtDNA translation in late-onset mitochondrial myopathy (2012) (2)
- Breathe: Your Mitochondria Will Do the Rest… If They Are Healthy! (2019) (2)
- The seventh European Meeting on Mitochondrial Pathology (2009) (1)
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- Response to Drs. Djouadi and Bastin (2011) (1)
- Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co-regulate proteasomes and mitochondria (2021) (1)
- Analysis of giant deletions of human mitochondrial DNA in progressive external ophthalmoplegia (1991) (1)
- [Metabolic myopathies]. (1991) (1)
- P18 Proteome adaptations in ETHE1 deficient mice indicate a role of sulfide signaling in lipid catabolism and cytoskeleton organization via post-translational protein modifications (2013) (1)
- The cAMP cascade regulates mitochondrial respiration in mammalian cells. The role of complex I (2005) (1)
- Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome (2017) (1)
- Mitochondrial diseases. (1994) (1)
- Mitochondrial Genes and Neurodegenerative Disease (2016) (1)
- Erratum: Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations (Human Molecular Genetics (2008) vol. 17(16) (2496-2506) 10.1093/hmg/ ddn150) (2009) (1)
- DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion. (2021) (1)
- 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 (2018) (0)
- PAW34 Mutations in OPA1 expand the clinical phenotype of mitochondrial disease (2010) (0)
- Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis (2018) (0)
- Erratum to: A MERRF/MELAS Overlap Syndrome Associated with a New Point Mutation in the Mitochondrial DNA tRNALys Gene (1993) (0)
- XV CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Naples, Italy - May 20-23, 2015 - Program (Summary) (2015) (0)
- Dysregulated mitophagy and mitochondrial transport in severe inherited optic atrophy due to OPA1 mutations (2012) (0)
- Structural rather than catalytic role for mitochondrial respiratory chain supercomplexes (2023) (0)
- Large-scale mutation screening in combination with lentiviral complementation of rare variants aid gene identification in mitochondrial disorders (2011) (0)
- Correction to 'DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion'. (2021) (0)
- Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency (2018) (0)
- P55 Reversible infantile respiratory chain deficiency is a genetically heterogenous mitochondrial disease (2011) (0)
- The role of SURF1 protein in cytochrome c oxidase biogenesis (2022) (0)
- Faculty Opinions recommendation of Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. (2010) (0)
- AlteredSulfide(H 2 S)MetabolisminEthylmalonic Encephalopathy (2013) (0)
- Mitochondrial complex I deficiency: exome sequencing aids efficient diagnosis and identification of a novel disease gene (2011) (0)
- Faculty Opinions recommendation of Iron-export ferroxidase activity of β-amyloid precursor protein is inhibited by zinc in Alzheimer's disease. (2010) (0)
- The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes (2014) (0)
- TRIAP1 MUTATIONS ARE A CAUSE OF REVERSIBLE INFANTILE BULBAR FAILURE WITH SUBSEQUENT PROGRESSIVE ADOLESCENT ONSET MYOPATHY (2016) (0)
- Molecular Diagnosis of Neurogenetic Disorders: Motoneuron, Peripheral Nerve and Muscle Disorders (2011) (0)
- 2015 Scientific Meeting Faculty (2015) (0)
- Severe early onset ethylmalonic encephalopathy with West syndrome (2015) (0)
- Mitochondrial DNA and OXPHOS Disorders (2004) (0)
- Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo (2018) (0)
- Molecular Diagnosis of Ataxias and Spastic Paraplegias (2011) (0)
- When and how should neurologists test for mutations in POLG (2007) (0)
- Gene Product in Duchenne Muscular Dystrophy (DMD): Biochemical and Morphological Data Indicate that Nebulin is a Candidate Protein (1987) (0)
- Phenylbutyrate therapy for pyruvate dehydrogenase deficiency (2012) (0)
- PINK1 mutations cause typical late-onset Parkinson's disease as well as early-onset Parkinsonism. (2006) (0)
- Clinical Heterogeneity Associated with the Mitochondrial DNA C3303T Point Mutation ♦ 734 (1998) (0)
- G.O.3 Dysregulated mitophagy and mitochondrial transport in sensori-motor neuropathy due to “Dominant Optic Atrophy” plus with OPA1 (Optic Atrophy 1) mutations (2015) (0)
- Phenylbutyrate for therapy of pyruvate dehydrogenase complex deficiency (2013) (0)
- Muscle oxphos enzymes and mtDNA lesions in parkinson's disease patients (1992) (0)
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- Mitochondrial complex I deficiency – new diagnostic approaches allow better genetic characterisation of 150 patients (2011) (0)
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- The Cerebellum and its Disorders: Ataxia in mitochondrial disorders (2001) (0)
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- Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction (2021) (0)
- Experimental Therapies (2019) (0)
- 300 Hemizygous prion protein gene (prnp) knockout in cattle fibroblasts (2008) (0)
- Mitochondrial DNA instability and dysregulated mitochondrial quality control contribute to progressive retinal ganglion cell loss in dominant optic atrophy (2015) (0)
- Two novel mutations in mtDNA structural genes. (2000) (0)
- A novel therapeutic strategy against mitochondrial diseases: redox cyclers. (2022) (0)
- Molecular Diagnosis of Neurogenetic Disorders: General Issues, Huntington's Disease, Parkinson's Disease and Dystonias (2011) (0)
- HAPTER 2 FASTKD 2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency (2010) (0)
- In vivo and in vitro mechanistic characterization of a clinically relevant PolγA mutation (2020) (0)
- Molecular Diagnosis of Mitochondrial Disorders (2011) (0)
- FBXL4 is a mitochondria-localized protein in which autosomal recessive mutations cause multiple respiratory chain multisystem disease commonly involving cortical atrophy and leukodystrophy (2013) (0)
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- BRAIN Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy (2014) (0)
- Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion (2015) (0)
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- Molecular Diagnosis of Channelopathies, Epilepsies, Migraine, Stroke and Dementias (2011) (0)
- H-1. Disorders of mitochondrial DNA maintenance and integrity (2009) (0)
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- Bezafibrate as treatment option in patients with mitochondrial complex I deficiency (2013) (0)
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- Mitochondrial diseases: from mechanisms to therapies (2018) (0)
- Two respiratory chain organizations with distinct bioenergetic properties coexist in human mitochondria (2022) (0)
- Studies in a yeast model of ANT1-associated adPEO reveal a crucial role of ROS in mtDNA instability (2008) (0)
- Nucleus-Driven Lesions of mtDNA and Disorders of Nucleus-Encoded Energy Genes (1999) (0)
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- Experimental therapy for mitochondrial diseases. (2023) (0)
- Faculty Opinions recommendation of Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy. (2008) (0)
- A de novo mutation in mitochondrial ATPsynthase subunit α causes a life threatening disease in neonates which heals in infancy (2021) (0)
- Severely impaired respiratory chain causes multisystem apoptosis-driven developmental defects, a new mitochondrial phenotype in vertebrates (2012) (0)
- C HAPTER 4 Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequenze (2010) (0)
- Diagnosis of hereditary cardiomyopathies (1992) (0)
- Down-regulation of mitochondrial aspartate/glutamate carrier isoform 1 in Neuro2A cells inhibits cell proliferation and N-acetyl-aspartate synthesis. (2016) (0)
- PROCEEDINGS of the XVI CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Lecce, Italy June 8-11, 2016 (2016) (0)
- PROCEEDINGS of the XVI CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Lecce, Italy June 8-11, 2016 (2016) (0)
- Measuring mitochondrial defects in human skin fibroblasts (2016) (0)
- 4-12-2019 miR-181 a / b downregulation exerts a protective action on mitochondrial disease models (2019) (0)
- Faculty Opinions recommendation of Postfertilization autophagy of sperm organelles prevents paternal mitochondrial DNA transmission. (2012) (0)
- X-Linked Recessive Axonal Neuropathy with Deafness and Cognitive Impairment (Cowchock Syndrome) Is Associated with Mutation in AIFM1 (S07.007) (2012) (0)
- A newly discovered protein is responsible for a progressive mitochondrial encephalomyopathy associated with severe complex III deficiency (2011) (0)
- Mitochondrial ATP production is required for Wnt signaling modulation (2018) (0)
- P301 Mitochondrial abnormalities in a newborn with lactic acidosis and adrenal calcifications (2009) (0)
- Mitochondrial medicine: Disease genes and mechanisms (2016) (0)
- Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease) (1987) (0)
- Faculty Opinions recommendation of A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. (2011) (0)
- Bioenergetic consequences of xenotopic expression of Ciona intestinalis alternative oxidase (AOX) in the mouse (2018) (0)
- Identification and characterization of new mitochondrial disease genes (2015) (0)
- P12 A novel model of cardiomyopathy reveals a tissue specific role for the complex i assembly factor ecsit (2018) (0)
- Oral Sessions (2019) (0)
- Correction to ‘DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion’ (2021) (0)
- OPAopathies: Widening the spectrum of human diseases associated with mutations in the OPA1 gene (2011) (0)
- [Physical study of big fragments and search strategy of genes. Application to locus of infant spinal muscular atrophies]. (1994) (0)
- New mitochondrial disease genes and mechanisms (2015) (0)
- Xenotopic expression of alternative oxidase (AOX) to study mechanisms of mitochondrial disease. (2022) (0)
- I-4. The devil in a bottle: a sulfurous conundrum in a mitochondrial disease (2009) (0)
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What Schools Are Affiliated With Massimo Zeviani?
Massimo Zeviani is affiliated with the following schools:
