Lista de obras - Helen Griffin - Dominio Público Uruguay

A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.

artículo científico publicado en 2012

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

artículo científico publicado en 2012

A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism

artículo científico publicado en 2014

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

artículo científico publicado en 2018

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency

artículo científico publicado en 2014

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease

artículo científico publicado en 2015

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

artículo científico publicado en 2014

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

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

artículo científico publicado en 2014

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

artículo científico publicado en 2013

Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB.

artículo científico publicado en 2015

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

artículo científico publicado en 2015

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

artículo científico publicado en 2016

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA

artículo científico publicado en 2014

Dual proteolytic pathways govern glycolysis and immune competence

artículo científico publicado en 2014

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

artículo científico publicado en 2014

Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

artículo científico publicado en 2017

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

artículo científico publicado en 2021

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

artículo científico publicado en 2011

Exome sequencing in dementia with Lewy bodies

artículo científico publicado en 2016

Exome sequencing in undiagnosed inherited and sporadic ataxias

artículo científico publicado en 2014

Functionally significant, rare transcription factor variants in tetralogy of Fallot

artículo científico publicado en 2014

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

artículo científico publicado en 2016

Genetic heterogeneity of motor neuropathies

artículo científico publicado en 2017

Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation

artículo científico publicado en 2009

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

artículo científico publicado en 2016

Increased yield of exome sequencing by off-target mitochondrial DNA analysis

artículo científico publicado en 2015

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization

artículo científico publicado en 2013

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

artículo científico publicado en 2020

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

artículo científico publicado en 2017

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

artículo científico publicado en 2018

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation

artículo científico publicado en 2018

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

artículo científico publicado en 2012

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

artículo científico publicado en 2015

Mutations in glycyl-tRNA-synthetase impair mitochondrial metabolism in neurons

artículo científico publicado en 2018

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

artículo científico publicado en 2014

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

artículo científico publicado en 2014

NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome

artículo científico publicado en 2012

Phenotypic convergence of Menkes and Wilson disease

artículo científico publicado en 2016

Phenotypic variability of TRPV4 related neuropathies

artículo científico publicado en 2015

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing

artículo científico publicado en 2012

RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels

scientific article published on 11 June 2020

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

artículo científico publicado en 2016

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

article

Reply: Evaluation of exome sequencing variation in undiagnosed ataxias

artículo científico publicado en 2015

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

artículo científico publicado en 2013

Respiratory chain deficiency in nonmitochondrial disease

artículo científico publicado en 2015

SPG7 mutations are a common cause of undiagnosed ataxia

artículo científico publicado en 2015

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

artículo científico publicado en 2015

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy

artículo científico publicado en 2014

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.

artículo científico publicado en 2010

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

scientific journal article

The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

artículo científico publicado en 2015

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

artículo científico publicado en 2013

Titin mutation segregates with hereditary myopathy with early respiratory failure

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

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering

artículo científico publicado en 2015

Lista de obras de Helen Griffin

A common variant in the PTPN11 gene contributes to the risk of tetralogy of Fallot.

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

A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies

ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes

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

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

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

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB.

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA

Dual proteolytic pathways govern glycolysis and immune competence

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

Exome sequencing in dementia with Lewy bodies

Exome sequencing in undiagnosed inherited and sporadic ataxias

Functionally significant, rare transcription factor variants in tetralogy of Fallot

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

Genetic heterogeneity of motor neuropathies

Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation

Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

Increased yield of exome sequencing by off-target mitochondrial DNA analysis

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

Mutations in glycyl-tRNA-synthetase impair mitochondrial metabolism in neurons

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome

Phenotypic convergence of Menkes and Wilson disease

Phenotypic variability of TRPV4 related neuropathies

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing

RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Reply: Evaluation of exome sequencing variation in undiagnosed ataxias

Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

Respiratory chain deficiency in nonmitochondrial disease

SPG7 mutations are a common cause of undiagnosed ataxia

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy

Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

Titin mutation segregates with hereditary myopathy with early respiratory failure

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

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering