Lista de obras - Eleonora Lamantea - Dominio Público Uruguay

3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease

artículo científico publicado en 1999

A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature

artículo científico publicado en 2015

A new mutation in GJC2 associated with subclinical leukodystrophy

artículo científico publicado en 2014

A novel mutation (8342G→A) in the mitochondrial tRNALys gene associated with progressive external ophthalmoplegia and myoclonus

article

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

artículo científico publicado en 2002

A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

artículo científico publicado en 1997

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

artículo científico publicado en 2015

Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency

scientific article published on 01 December 1998

Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy

artículo científico publicado en 2008

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

artículo científico publicado en 2013

C10ORF2 mutation associated with progressive external ophthalmoplegia and clinically isolated syndrome

article

Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations

scientific journal article

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

artículo científico publicado en 2014

Cerebral white matter involvement in children with mitochondrial encephalopathies

artículo científico publicado en 2002

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

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

scientific article published on 19 July 2018

Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.

artículo científico publicado en 2008

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

artículo científico publicado en 2014

Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy

artículo científico publicado en 2005

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.

artículo científico publicado en 2018

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

scientific journal article

Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations.

artículo científico publicado en 2015

ETHE1 mutations are specific to ethylmalonic encephalopathy

artículo científico publicado en 2006

Effects of riboflavin in children with complex II deficiency

artículo científico publicado en 2006

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

artículo científico publicado en 2004

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

artículo científico publicado en 2010

Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form

artículo científico publicado en 2012

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.

artículo científico publicado en 2015

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

artículo científico publicado en 2020

Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion

artículo científico publicado en 2000

Fumarate hydratase deficiency

scientific article published on 01 June 1998

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy

artículo científico publicado en 2006

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

artículo científico publicado en 2009

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

artículo científico publicado en 2008

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

artículo científico publicado en 2005

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.

artículo científico publicado en 2018

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

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

artículo científico publicado en 2016

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 1998

Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.

artículo científico publicado en 2015

Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

artículo científico publicado en 2002

Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.

artículo científico publicado en 2018

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

artículo científico publicado en 2017

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

artículo científico publicado en 2000

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

artículo científico publicado en 2006

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

artículo científico publicado en 2010

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene.

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Reply to the letter by Finsterer et al. concerning the paper: "Affection of immune-cells by a C10orf2 mutation manifesting as mitochondrial myopathy and transient sensory transverse syndrome" by Galassi G. et al

artículo científico publicado en 2017

SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency

artículo científico publicado en 2017

Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain

artículo científico publicado en 2001

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

artículo científico publicado en 2014

Lista de obras de Eleonora Lamantea

3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease

A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature

A new mutation in GJC2 associated with subclinical leukodystrophy

A novel mutation (8342G→A) in the mitochondrial tRNALys gene associated with progressive external ophthalmoplegia and myoclonus

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

A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency

Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy

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

C10ORF2 mutation associated with progressive external ophthalmoplegia and clinically isolated syndrome

Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

Cerebral white matter involvement in children with mitochondrial encephalopathies

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

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.

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

Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.

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

Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations.

ETHE1 mutations are specific to ethylmalonic encephalopathy

Effects of riboflavin in children with complex II deficiency

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

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

Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form

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.

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion

Fumarate hydratase deficiency

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

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

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.

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

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

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

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

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

Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.

Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation

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

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

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

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

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

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 mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

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

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

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

Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene.

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

Reply to the letter by Finsterer et al. concerning the paper: "Affection of immune-cells by a C10orf2 mutation manifesting as mitochondrial myopathy and transient sensory transverse syndrome" by Galassi G. et al

SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency

Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies