List of works - Emma L. Blakely

A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia

scientific article published on 04 June 2019

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.

scientific article published on 19 September 2011

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

scientific article published on 9 April 2008

A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast

scientific article

A national perspective on prenatal testing for mitochondrial disease

scientific article

A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features

scientific article published in March 2009

A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia

scientific article (publication date: September 2003)

A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease

scientific article

A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes

scientific article published on 22 April 2019

A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits.

scientific article published on 04 December 2011

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

scientific article published on 26 May 2015

Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle

scientific article

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

scientific article

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

scientific article

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

scientific article

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

scientific article

An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI.

scientific article published on 29 March 2007

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

scientific article

Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation.

scientific article published in October 2004

Clinical and pathological features of mitochondrial DNA deletion disease following antiretroviral treatment

scientific article published on May 2015

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease

scientific article published on 25 April 2016

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

scientific article published in January 2015

Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis.

scientific article published on 30 April 2016

Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report

scientific article

Cytochrome c oxidase-intermediate fibres: importance in understanding the pathogenesis and treatment of mitochondrial myopathy

scientific article

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

scientific article

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

scientific article published on July 2002

Disease progression in patients with single, large-scale mitochondrial DNA deletions

scientific article

Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation

scientific article

Genotypes from patients indicate no paternal mitochondrial DNA contribution

scientific article published on 01 October 2003

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance

scientific article published on 14 November 2019

Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0.

scientific article

Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations.

scientific article published in September 2010

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation

article

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.

scientific article

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

scientific article published on 24 April 2010

Loss of myelin-associated glycoprotein in kearns-sayre syndrome

scientific article published on April 2012

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.

scientific article

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.

scientific article published on 24 February 2018

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

scientific article

Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.

scientific article

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies

scientific article published on 11 July 2013

Mitochondrial DNA mutations and human disease

scientific article published on 15 September 2009

Mitochondrial pathology in progressive cerebellar ataxia

scientific article

Mitochondrial respiratory chain disease in children undergoing cardiac transplantation: a prospective study

scientific article published on 20 December 2011

Mitochondrial tRNA mutations and disease

scientific article

Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity

scientific article published on November 2010

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

scientific article

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

scientific article

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

scientific article

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

scientific article published on 19 July 2012

NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROME.

scientific article published on 19 December 2016

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

scientific article

Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.

scientific article

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

scientific article published on 27 May 2008

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia

scientific article published on 15 December 2017

Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis.

scientific article published in July 2005

POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism

scientific article published on 16 November 2016

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy

scientific article

Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?

scientific article

Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease

scientific article

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.

scientific article published on 23 June 2016

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study

scientific article published in August 2019

Pathological mechanisms underlying single large-scale mitochondrial DNA deletions

scientific article

Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant

scientific article published on 20 July 2017

Prevalence of mitochondrial DNA disease in adults

scientific article

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

scientific article published on 28 March 2015

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

scientific article

Recent advances in understanding the molecular genetic basis of mitochondrial disease

scientific article published on 10 May 2019

Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities

scientific article published on 11 April 2013

Resistance training in patients with single, large-scale deletions of mitochondrial DNA.

scientific article published in November 2008

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

scientific article

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).

scientific article

Sensory neuronopathy in patients harbouring recessive polymerase γ mutations

scientific article published on 20 December 2011

Sporadic Intragenic Inversion of the Mitochondrial DNA MTND1 Gene Causing Fatal Infantile Lactic Acidosis

article

Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation

scientific article published on 06 April 2007

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

scientific article published in May 2010

The frequency of the m.1555A>G (MTRNR1) variant in UK patients with suspected mitochondrial deafness

scientific article published on 20 May 2016

The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells

scientific article published on 18 February 2010

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

scientific article published on 22 April 2016

The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease.

scientific article published on 27 December 2012

The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy

scientific article published on 06 September 2007

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families ⬇️

scientific article published on September 6, 2010

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

scientific article published in July 2014

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.

scientific article published in June 2018

List of works by Emma L. Blakely

A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast

A national perspective on prenatal testing for mitochondrial disease

A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features

A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia

A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease

A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes

A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits.

A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle

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

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI.

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

Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation.

Clinical and pathological features of mitochondrial DNA deletion disease following antiretroviral treatment

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease

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

Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis.

Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report

Cytochrome c oxidase-intermediate fibres: importance in understanding the pathogenesis and treatment of mitochondrial myopathy

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

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

Disease progression in patients with single, large-scale mitochondrial DNA deletions

Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation

Genotypes from patients indicate no paternal mitochondrial DNA contribution

Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance

Insights into N-calls of mitochondrial DNA sequencing using MitoChip v2.0.

Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations.

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

Loss of myelin-associated glycoprotein in kearns-sayre syndrome

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.

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

Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies

Mitochondrial DNA mutations and human disease

Mitochondrial pathology in progressive cerebellar ataxia

Mitochondrial respiratory chain disease in children undergoing cardiac transplantation: a prospective study

Mitochondrial tRNA mutations and disease

Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity

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

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

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.

Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy

NEW OBSERVATIONS REGARDING THE RETINOPATHY OF GENETICALLY CONFIRMED KEARNS-SAYRE SYNDROME.

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.

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

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia

Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis.

POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy

Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?

Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study

Pathological mechanisms underlying single large-scale mitochondrial DNA deletions

Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant

Prevalence of mitochondrial DNA disease in adults

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

Recent advances in understanding the molecular genetic basis of mitochondrial disease

Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities

Resistance training in patients with single, large-scale deletions of mitochondrial DNA.

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).

Sensory neuronopathy in patients harbouring recessive polymerase γ mutations

Sporadic Intragenic Inversion of the Mitochondrial DNA MTND1 Gene Causing Fatal Infantile Lactic Acidosis

Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

The frequency of the m.1555A>G (MTRNR1) variant in UK patients with suspected mitochondrial deafness

The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells