Lista de obras - Federica Invernizzi - Dominio Público Uruguay

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

artículo científico publicado en 2013

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders.

artículo científico publicado en 2012

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

artículo científico

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

artículo científico publicado en 2012

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

artículo científico publicado en 2009

Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy

artículo científico publicado en 2008

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene

article

Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

artículo científico publicado en 2014

Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients

article

Clinical and molecular features of mitochondrial DNA depletion syndromes.

artículo científico publicado en 2008

Clinical and molecular findings in children with complex I deficiency

artículo científico publicado en 2004

Clinical and molecular heterogeneity in very–long-chain acyl-coenzyme a dehydrogenase deficiency

scientific article published on 01 February 2000

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

artículo científico publicado en 2014

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

scientific journal article

DYT2 screening in early-onset isolated dystonia.

artículo científico publicado en 2016

Effects of riboflavin in children with complex II deficiency

artículo científico publicado en 2006

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

artículo científico publicado en 2015

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

artículo científico publicado en 2014

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

artículo científico publicado en 2010

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study

artículo científico publicado en 2019

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

article

GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations

article

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts.

artículo científico publicado en 2016

Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene

artículo científico publicado en 2012

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

artículo científico publicado en 2008

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

Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency

artículo científico publicado en 2001

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

artículo científico publicado en 2013

Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment

artículo científico publicado en 1999

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells

artículo científico publicado en 2012

Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency

artículo científico publicado en 1998

Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance

artículo científico publicado en 2015

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

artículo científico publicado en 2004

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

artículo científico publicado en 2011

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

scientific article published on 18 June 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

artículo científico publicado en 2016

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

artículo científico publicado en 2016

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

artículo científico publicado en 2007

Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation

artículo científico publicado en 2013

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

artículo científico publicado en 2010

Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum

artículo científico publicado en 2018

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

artículo científico publicado en 2009

SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients.

artículo científico publicado en 2017

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

artículo científico publicado en 2010

The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview

scientific article published in 2016

Thiamine-responsive disease due to mutation of tpk1 : Importance of avoiding misdiagnosis

artículo científico publicado en 2017

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

artículo científico publicado en 2008

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

artículo científico publicado en 2009

Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria

scientific article published on 01 February 1998

Lista de obras de Federica Invernizzi

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

A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders.

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

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

Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene

Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

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

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

Clinical and genetic features of paroxysmal kinesigenic dyskinesia in Italian patients

Clinical and molecular features of mitochondrial DNA depletion syndromes.

Clinical and molecular findings in children with complex I deficiency

Clinical and molecular heterogeneity in very–long-chain acyl-coenzyme a dehydrogenase deficiency

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

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

DYT2 screening in early-onset isolated dystonia.

Effects of riboflavin in children with complex II deficiency

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study

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

GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts.

Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene

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

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

Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment

Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells

Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency

Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.

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

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

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

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

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

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

Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation

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

Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum

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

SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients.

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

The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview

Thiamine-responsive disease due to mutation of tpk1 : Importance of avoiding misdiagnosis

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

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria