(Q48607253)

13 February 2018

title

A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity (English)

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13 February 2018

author

Mathieu Anheim

15

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13 February 2018

Anthony Béhin

Anthony Béhin

10

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Marie Vidailhet

18

Marie Vidailhet

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13 February 2018

6

Alexandra Durr

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13 February 2018

19

Alexis Brice

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13 February 2018

8

Fanny Mochel

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13 February 2018

Tanya Stojkovic

11

Tanya Stojkovic

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13 February 2018

Damien Galanaud

4

Damien Galanaud

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13 February 2018

Isabelle Gourfinkel-An

13

Isabelle Gourfinkel-An

1 reference

13 February 2018

Pascal Laforet

5

Pascal Laforêt

1 reference

13 February 2018

Thierry Maisonobe

3

Thierry Maisonobe

1 reference

13 February 2018

Maya Tchikviladzé

1

Maya Tchikviladzé

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13 February 2018

author name string

Mylène Gilleron

2

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13 February 2018

Bruno Eymard

7

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13 February 2018

Hélène Ogier

9

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13 February 2018

Bertrand Degos

12

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13 February 2018

Frederic Sedel

14

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13 February 2018

Alexis Elbaz

16

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13 February 2018

Karine Viala

17

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13 February 2018

Claude Jardel

20

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13 February 2018

Anne Lombès

21

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13 February 2018

language of work or name

English

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publication date

11 August 2014

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13 February 2018

Journal of Neurology, Neurosurgery and Psychiatry

published in

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13 February 2018

volume

86

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13 February 2018

issue

6

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13 February 2018

page(s)

646-654

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13 February 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-306799

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 January 2018

1 reference

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Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

21 January 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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-306799

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-306799

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

21 January 2018

1 reference

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MELAS associated with mutations in the POLG1 gene.

21 January 2018

1 reference

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Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

21 January 2018

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Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction

21 January 2018

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POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection

21 January 2018

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Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

21 January 2018

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

21 January 2018

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Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations

21 January 2018

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Sensory neuronopathy in patients harbouring recessive polymerase γ mutations

21 January 2018

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Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis

21 January 2018

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Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-306799

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

21 January 2018

1 reference

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The unfolding clinical spectrum of POLG mutations.

21 January 2018

1 reference

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Clinical and molecular features of POLG-related mitochondrial disease.

21 January 2018

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Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood

21 January 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

21 January 2018

1 reference

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Digenic mutations in severe myoclonic epilepsy of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-306799

Biochemical analysis of the G517V POLG variant reveals wild-type like activity

21 January 2018

1 reference

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Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations

21 January 2018

1 reference

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Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-306799

Characterizing POLG ataxia: clinics, electrophysiology and imaging

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-306799

Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features

21 January 2018

1 reference

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OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

21 January 2018

1 reference

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A new rating scale for age-related white matter changes applicable to MRI and CT.

21 January 2018

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CT and MRI rating of white matter lesions

21 January 2018

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Comparison of MRI criteria at first presentation to predict conversion to clinically definite multiple sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-306799

Imaging of white matter lesions

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-306799

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-306799

The pattern and diagnostic criteria of sensory neuronopathy: a case-control study

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-306799

21 January 2018

Identifiers

DOI

10.1136/JNNP-2013-306799

1 reference

13 February 2018

1 reference

13 February 2018