Progressive Ataxia and Palatal Tremor: Think about POLG Mutations

Open Access

|May 2016

References

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HakonenAHHeiskanenSJuvonenVet alMitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European originAm J Hum Genet200577430441doi: 10.1086/44454816080118
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SamuelMTorunNTuitePJSharpeJALangAEProgressive ataxia and palatal tremor (PAPT): clinical and MRI assessment with review of palatal tremorsBrain200412712521268doi: 10.1093/brain/awh13715090471
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NicastroNRanzaEAntonarakisSEHorvathJPure progressive ataxia and palatal tremor (PAPT) associated with a new polymerase gamma (POLG) mutationCerebellum2015
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TchikviladzéMGilleronMMaisonobeTet alA diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificityJ Neurol Neurosurg Psychiatry201586646654doi: 10.1136/jnnp-2013-30679925118206
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DOI: https://doi.org/10.5334/tohm.329 | Journal eISSN: 2160-8288

Language: English

Submitted on: Mar 23, 2016

Accepted on: Apr 7, 2016

Published on: May 2, 2016

Published by: Columbia University Libraries/Information Services

In partnership with: Paradigm Publishing Services

Publication frequency: 1 issue per year

Keywords:

© 2016 Marie Mongin, Cécile Delorme, Timothée Lenglet, Claude Jardel, Catherine Vignal, Emmanuel Roze, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.