List of works - Costanza Lamperti

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

scientific article

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy

scientific article published on 15 September 2005

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

scientific article

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

scientific article published on 14 April 2015

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

scientific article published on 27 October 2017

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene

scientific article published on 4 January 2006

Corrigendum to "Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both" [Neuromuscular Disorders 26/8 (2016) 549].

scientific article published on 8 February 2017

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

scientific article

Distinctive patterns of microRNA expression in primary muscular disorders

scientific article

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

scientific article

Eight Novel Mutations in SPG4 in a Large Sample of Patients With Hereditary Spastic Paraplegia

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

scholarly article published in Journal of Neurology

Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature

scientific article published on 25 October 2013

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

Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study

scientific article

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

scientific article

Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator-1 gene

scientific article published on 29 July 2002

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients

article

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

scientific article published on 23 July 2012

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort

scientific article published on 01 July 2006

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

scientific article published on 5 January 2016

Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches

scientific article

Mitochondrial m.3243A > G mutation and carotid artery dissection

scientific article published on September 2016

Muscle coenzyme Q10 level in statin-related myopathy

scientific article

Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes

scientific article published in October 2003

Muscular dystrophy: central nervous system alpha-dystroglycan glycosylation defects and brain malformation

scientific article published on 25 July 2009

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

scientific article

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

scientific article

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

scientific article

Myoclonus epilepsy in mitochondrial disorders

scientific article published on 12 September 2016

Myoclonus in mitochondrial disorders

scientific article published on 7 February 2014

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

scientific article

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

scientific article published on 8 March 2016

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

scientific article published on 12 May 2017

Novel (ovario) leukodystrophy related to AARS2 mutations

scientific article

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

scientific article published on 06 December 2013

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

scientific article published on 9 January 2012

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

scientific article published in May 2013

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

scientific article

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

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

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

scientific article published on 07 September 2016

Redefining phenotypes associated with mitochondrial DNA single deletion

scientific article published on 26 March 2015

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

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

scientific article

Spontaneous hydromyelic cavity in two unrelated patients with late-onset pompe disease: is this a fortuitous association?

scientific article

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

scientific article

The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency

scientific article published on 30 April 2009

Transcription Factor EB Controls Metabolic Flexibility during Exercise

scientific article published on 20 December 2016

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

scientific article published on 24 June 2014

List of works by Costanza Lamperti

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

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy

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

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

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

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

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

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

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

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

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

Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene

Corrigendum to "Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both" [Neuromuscular Disorders 26/8 (2016) 549].

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

Distinctive patterns of microRNA expression in primary muscular disorders

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

Eight Novel Mutations in SPG4 in a Large Sample of Patients With Hereditary Spastic Paraplegia

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature

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

Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study

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

Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator-1 gene

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients

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

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches

Mitochondrial m.3243A > G mutation and carotid artery dissection

Muscle coenzyme Q10 level in statin-related myopathy

Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes

Muscular dystrophy: central nervous system alpha-dystroglycan glycosylation defects and brain malformation

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

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

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

Myoclonus epilepsy in mitochondrial disorders

Myoclonus in mitochondrial disorders

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

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Novel (ovario) leukodystrophy related to AARS2 mutations

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

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

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

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

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

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

Redefining phenotypes associated with mitochondrial DNA single deletion

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

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

Spontaneous hydromyelic cavity in two unrelated patients with late-onset pompe disease: is this a fortuitous association?

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

The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency

Transcription Factor EB Controls Metabolic Flexibility during Exercise

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies