Lista de obras -

A critical analysis of the combined usage of protein localization prediction methods: Increasing the number of independent data sets can reduce the accuracy of predicted mitochondrial localization

artículo científico publicado en 2010

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy

artículo científico publicado en 2011

A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts

artículo científico publicado en 2019

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

artículo científico publicado en 2012

A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia

artículo científico publicado en 2005

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

artículo científico publicado en 2014

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution

Author Correction: Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos.

artículo científico publicado en 2018

Characterizing mild cognitive impairment in incident Parkinson disease: the ICICLE-PD study

artículo científico publicado en 2013

Circulating cell-free mitochondrial DNA levels in Parkinson's disease are influenced by treatment

scientific article published on 18 February 2020

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

artículo científico publicado en 2007

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

artículo científico publicado en 2010

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy

artículo científico publicado en 2013

Epigenetics, epidemiology and mitochondrial DNA diseases.

artículo científico publicado en 2012

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans

artículo científico publicado en 2015

Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very old.

artículo científico publicado en 2013

Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome

artículo científico publicado en 2011

Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy.

artículo científico publicado en 2009

Genetic variation of CHRNA4 does not modulate attention in Parkinson's disease

artículo científico publicado en 2010

Genetic variations within the OPA1 gene are not associated with neuromyelitis optica

artículo científico publicado en 2011

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

artículo científico publicado en 2005

Inherited mitochondrial optic neuropathies

artículo científico publicado en 2008

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

artículo científico publicado en 2010

Mitochondrial DNA and traumatic brain injury

artículo científico publicado en 2014

Mitochondrial DNA polymerase-gamma and human disease

artículo científico publicado en 2006

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

artículo científico publicado en 2016

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

artículo científico publicado en 2009

Multi-system neurological disease is common in patients with OPA1 mutations

artículo científico publicado en 2010

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia

artículo científico publicado en 2006

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

artículo científico publicado en 2007

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism

scientific article published on 01 April 2007

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.

artículo científico publicado en 2017

No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls

artículo científico publicado en 2012

No evidence of substantia nigra telomere shortening in Parkinson's disease

artículo científico publicado en 2011

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy

artículo científico publicado en 2008

OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS

artículo científico publicado en 2008

OPA1 increases the risk of normal but not high tension glaucoma

artículo científico publicado en 2009

POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease

artículo científico publicado en 2008

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

artículo científico publicado en 2006

Quality of life in patients with leber hereditary optic neuropathy

artículo científico publicado en 2009

Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy

artículo científico publicado en 2013

Recent mitochondrial DNA mutations increase the risk of developing common late-onset human diseases

artículo científico publicado en 2014

Reduced cerebrospinal fluid mitochondrial DNA is a biomarker for early-stage Parkinson's disease

artículo científico publicado en 2015

Reduced mitochondrial DNA copy number is a biomarker of Parkinson's disease

artículo científico publicado en 2015

Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion

artículo científico publicado en 2015

Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene

artículo científico publicado en 2009

Somatic mtDNA variation is an important component of Parkinson's disease

artículo científico publicado en 2015

The prevalence and natural history of dominant optic atrophy due to OPA1 mutations

artículo científico publicado en 2010

Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease

artículo científico publicado en 2013

Unique mitochondrial DNA in highly inbred feral cattle

artículo científico publicado en 2012

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

artículo científico publicado en 2018

Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON.

artículo científico publicado en 2011

Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy.

artículo científico publicado en 2010

Variation in complement protein C1q is not a major contributor to cognitive impairment in Parkinson's disease.

artículo científico publicado en 2015

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

artículo científico publicado en 2012

X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.

artículo científico publicado en 2007

metabolic profiling of Parkinson's disease and mild cognitive impairment

artículo científico publicado en 2017

Lista de obras de

A critical analysis of the combined usage of protein localization prediction methods: Increasing the number of independent data sets can reduce the accuracy of predicted mitochondrial localization

A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy

A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution

Author Correction: Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos.

Characterizing mild cognitive impairment in incident Parkinson disease: the ICICLE-PD study

Circulating cell-free mitochondrial DNA levels in Parkinson's disease are influenced by treatment

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy

Epigenetics, epidemiology and mitochondrial DNA diseases.

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans

Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very old.

Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome

Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy.

Genetic variation of CHRNA4 does not modulate attention in Parkinson's disease

Genetic variations within the OPA1 gene are not associated with neuromyelitis optica

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

Inherited mitochondrial optic neuropathies

Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.

Mitochondrial DNA and traumatic brain injury

Mitochondrial DNA polymerase-gamma and human disease

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Multi-system neurological disease is common in patients with OPA1 mutations

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease.

No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls

No evidence of substantia nigra telomere shortening in Parkinson's disease

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy

OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS

OPA1 increases the risk of normal but not high tension glaucoma

POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

Quality of life in patients with leber hereditary optic neuropathy

Raised intraocular pressure as a potential risk factor for visual loss in Leber Hereditary Optic Neuropathy

Recent mitochondrial DNA mutations increase the risk of developing common late-onset human diseases

Reduced cerebrospinal fluid mitochondrial DNA is a biomarker for early-stage Parkinson's disease

Reduced mitochondrial DNA copy number is a biomarker of Parkinson's disease

Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion

Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene

Somatic mtDNA variation is an important component of Parkinson's disease

The prevalence and natural history of dominant optic atrophy due to OPA1 mutations

Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease

Unique mitochondrial DNA in highly inbred feral cattle

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.

Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON.

Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy.

Variation in complement protein C1q is not a major contributor to cognitive impairment in Parkinson's disease.

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.

metabolic profiling of Parkinson's disease and mild cognitive impairment