Characterizing POLG ataxia: clinics, electrophysiology and imaging. (Q48552046)

12 February 2018

title

Characterizing POLG ataxia: clinics, electrophysiology and imaging. (English)

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12 February 2018

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4

Daniela Berg

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ORCID Public Data File 2021

12 February 2018

Ludger Schöls

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object named as

Ludger Schöls

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12 February 2018

Matthis Synofzik

1

object named as

Matthis Synofzik

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12 February 2018

author name string

Karin Srulijes

2

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12 February 2018

Jana Godau

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12 February 2018

publication date

1 December 2012

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12 February 2018

published in

The Cerebellum

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12 February 2018

volume

11

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12 February 2018

page(s)

1002-1011

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12 February 2018

issue

4

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12 February 2018

https://scigraph.springernature.com/pub.10.1007/s12311-012-0378-2

exact match

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cites work

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

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The Measurement of Observer Agreement for Categorical Data

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

21 January 2018

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Complex hyperkinetic movement disorders associated with POLG mutations.

21 January 2018

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Microglia activation is related to substantia nigra echogenicity

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Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan

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12 December 2020

Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features

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12 December 2020

Transcranial sonography reveals cerebellar, nigral, and forebrain abnormalities in Friedreich's ataxia

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12 December 2020

Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy

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12 December 2020

Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms

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

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Friedreich's ataxia. Early detection and progression of peripheral nerve abnormalities

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The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe.

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12 December 2020

10.1007/S12311-012-0378-2

Identifiers

DOI

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12 February 2018

PubMed ID

22528963

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12 February 2018