Sensory neuronopathy in patients harbouring recessive polymerase γ mutations (Q35706479)

9 August 2017

title

Sensory neuronopathy in patients harbouring recessive polymerase γ mutations (English)

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9 August 2017

Emma L Blakely

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9 August 2017

Robert William Taylor

object named as

Robert W Taylor

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9 August 2017

Nichola Z Lax

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9 August 2017

Roger G Whittaker

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9 August 2017

Philippa D Hepplewhite

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9 August 2017

Amy K Reeve

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9 August 2017

Evelyn Jaros

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9 August 2017

Paul G Ince

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9 August 2017

Peter R W Fawcett

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9 August 2017

Doug M Turnbull

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9 August 2017

language of work or name

English

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publication date

20 December 2011

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9 August 2017

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9 August 2017

volume

135

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9 August 2017

issue

Pt 1

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9 August 2017

page(s)

62-71

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Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

9 August 2017

cites work

1 reference

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Mitochondrial DNA mutations in human colonic crypt stem cells

12 July 2018

1 reference

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Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

12 July 2018

1 reference

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

12 July 2018

1 reference

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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

12 July 2018

1 reference

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Replication of animal mitochondrial DNA.

12 July 2018

1 reference

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Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.

12 July 2018

1 reference

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Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease

25 September 2018

1 reference

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Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.

25 September 2018

1 reference

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A variable neurodegenerative phenotype with polymerase gamma mutation.

25 September 2018

1 reference

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Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations

25 September 2018

1 reference

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Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children

25 September 2018

1 reference

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MELAS associated with mutations in the POLG1 gene.

25 September 2018

1 reference

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Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement

25 September 2018

1 reference

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The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

25 September 2018

1 reference

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Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

25 September 2018

1 reference

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Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations

25 September 2018

1 reference

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POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

25 September 2018

1 reference

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POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

25 September 2018

1 reference

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Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma

25 September 2018

1 reference

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Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family

25 September 2018

1 reference

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Neuropathological and histochemical changes in a multiple mitochondrial DNA deletion disorder

25 September 2018

1 reference

12 December 2020

Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease

1 reference

12 December 2020

SANDO: Two novel mutations in POLG1 gene

1 reference

12 December 2020

A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells

1 reference

12 December 2020

POLG, but notPEO1, is a frequent cause of cerebellar ataxia in Central Europe

1 reference

12 December 2020

Identifiers

DOI

10.1093/BRAIN/AWR326

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9 August 2017

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9 August 2017

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