Lista de obras - Vittoria Petruzzella - Dominio Público Uruguay

A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H

artículo científico publicado en 2010

Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain.

artículo científico publicado en 2006

Bilateral striatal necrosis, dystonia and multiple mitochondrial DNA deletions: Case study and effect of deep brain stimulation

artículo científico publicado en 2008

CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity

scientific article published on 20 February 2020

Dysfunction of mitochondrial respiratory chain complex I in neurological disorders: genetics and pathogenetic mechanisms.

artículo científico publicado en 2012

Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I

artículo científico publicado en 2006

Fishing in the Cell Powerhouse: Zebrafish as A Tool for Exploration of Mitochondrial Defects Affecting the Nervous System.

artículo científico publicado en 2019

HmtDB, a genomic resource for mitochondrion-based human variability studies

artículo científico publicado en 2011

Interaction of COMT (Val(108/158)Met) genotype and olanzapine treatment on prefrontal cortical function in patients with schizophrenia.

artículo científico publicado en 2004

Late-onset Leber hereditary optic neuropathy mimicking Susac's syndrome

artículo científico publicado en 2010

Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report

article

Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers

artículo científico publicado en 2015

Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers

scientific article published on 20 December 2018

Mitochondrial DNA metabolism in early development of zebrafish (Danio rerio).

artículo científico publicado en 2012

Mitochondrial DNA variants and risk of familial breast cancer: An exploratory study

scientific article published on 05 March 2014

Mitochondrial genome aberrations in skeletal muscle of patients with motor neuron disease

Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts

artículo científico publicado en 2022

Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia

artículo científico publicado en 2009

Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants

artículo científico publicado en 2005

Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases

artículo científico publicado en 2009

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

artículo científico publicado en 2012

Prefrontal dysfunction in schizophrenia controlling for COMT Val158Met genotype and working memory performance

artículo científico publicado en 2006

Prefrontal-hippocampal coupling during memory processing is modulated by COMT val158met genotype

artículo científico publicado en 2006

RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome assembly through their interaction with GTPases

scientific article published on 31 July 2020

Respiratory chain complex I, a main regulatory target of the cAMP/PKA pathway is defective in different human diseases

artículo científico publicado en 2011

Respiratory complex I in brain development and genetic disease

artículo científico publicado en 2004

The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy

artículo científico publicado en 2007

The oxidative phosphorylation system in mammalian mitochondria

artículo científico

The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations

article

Lista de obras de Vittoria Petruzzella

A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H

Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain.

Bilateral striatal necrosis, dystonia and multiple mitochondrial DNA deletions: Case study and effect of deep brain stimulation

CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity

Dysfunction of mitochondrial respiratory chain complex I in neurological disorders: genetics and pathogenetic mechanisms.

Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I

Fishing in the Cell Powerhouse: Zebrafish as A Tool for Exploration of Mitochondrial Defects Affecting the Nervous System.

HmtDB, a genomic resource for mitochondrion-based human variability studies

Interaction of COMT (Val(108/158)Met) genotype and olanzapine treatment on prefrontal cortical function in patients with schizophrenia.

Late-onset Leber hereditary optic neuropathy mimicking Susac's syndrome

Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report

Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers

Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers

Mitochondrial DNA metabolism in early development of zebrafish (Danio rerio).

Mitochondrial DNA variants and risk of familial breast cancer: An exploratory study

Mitochondrial genome aberrations in skeletal muscle of patients with motor neuron disease

Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts

Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia

Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants

Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

Prefrontal dysfunction in schizophrenia controlling for COMT Val158Met genotype and working memory performance

Prefrontal-hippocampal coupling during memory processing is modulated by COMT val158met genotype

RCC1L (WBSCR16) isoforms coordinate mitochondrial ribosome assembly through their interaction with GTPases

Respiratory chain complex I, a main regulatory target of the cAMP/PKA pathway is defective in different human diseases

Respiratory complex I in brain development and genetic disease

The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy

The oxidative phosphorylation system in mammalian mitochondria

The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations