F. Carrara

发表

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.

M. Zeviani, A. Torroni, P. Barboni, 1997, American journal of human genetics.

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

Sarah Calvo, Paolo Gasparini, Massimo Zeviani, 2006, Nature Genetics.

The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy

D. Turnbull, C. Morris, M. Zeviani, 2003, Journal of medical genetics.

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

V. Tiranti, M. Zeviani, E. Lamantea, 2009, Biochimica et biophysica acta.

The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy.

S. Dimauro, M. Zeviani, C. Bruno, 1999, The Journal of pediatrics.

Clinical and molecular findings in children with complex I deficiency.

M. Zeviani, E. Lamantea, G. Uziel, 2004, Biochimica et biophysica acta.

A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function.

M. Bortolozzi, L. Scorrano, C. Angelini, 2008, Human molecular genetics.

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

I. D. de Coo, H. Smeets, M. Zeviani, 2005, American journal of human genetics.

Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases

M. Zeviani, G. Avanzini, S. Franceschetti, 1993, Acta neurologica Scandinavica.

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

M. Zeviani, M. Onofrj, Astrid Thomas, 2008, Neuromuscular Disorders.

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

V. Tiranti, M. Zeviani, E. Lamantea, 2002, Neuromuscular Disorders.

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

G. Broggi, M. Zeviani, G. Finocchiaro, 2005, Journal of Neuro-Oncology.

Primary carnitine deficiency

G. Uziel, B. Garavaglia, F. Carrara, 1991, Neurology.

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

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

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

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

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.

Epileptic phenotypes associated with mitochondrial disorders

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

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.

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.

Papillitis as an onset sign of Leber's hereditary optic neuropathy: a case report

D. Riva, V. Scaioli, E. Piozzi, 2001, Brain and Development.

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

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

Cultured muscle cells display defects of mitochondrial myopathy ameliorated by anti-oxidants.

A. Russell, L. Cavallini, B. Léger, 2007, Brain : a journal of neurology.

Clinical and molecular features of mitochondrial DNA depletion syndromes

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

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.

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

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

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

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

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.

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

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

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

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

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.

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.

Genotypes from patients indicate no paternal mitochondrial DNA contribution

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

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

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

Absence of mutations and identification of two polymorphisms in the SSCP and sequence analysis of p21CK1 gene in malignant gliomas

G. Finocchiaro, M. Tenan, F. Carrara, 1995, International journal of cancer.

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.

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.

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.

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

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

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.

Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion

E. Lamantea, B. Garavaglia, E. Zammarchi, 2000, Journal of Inherited Metabolic Disease.

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.

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

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

Deletion of exons 11–17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease

G. Finocchiaro, G. Uziel, D. Pareyson, 2000, Journal of Neurology.

Ultrastructural analysis of extraocular muscle in chronic progressive external ophthalmoplegia.

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

Muscle cytochromec oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype

G. Uziel, P. Tonin, B. Garavaglia, 1994, Journal of Inherited Metabolic Disease.

Clinical and molecular findings in the first identified Italian family with dentatorubral‐pallidoluysian atrophy

G. Avanzini, R. Spreafico, F. Villani, 1998, Acta neurologica Scandinavica.

Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son

F. Carrara, S. Sampaolo, Massimo Zeviani, 2003, Journal of medical genetics.

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

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