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Serum anti-GQ1b IgG antibody is associated with ophthalmoplegia in Miller Fisher syndrome and Guillain-Barré syndrome: Clinical and immunohistochemical studies

A Chiba, S Kusunoki, H Obata, R Machinami… - Neurology, 2011 - AAN Enterprises

Sequence-specific stalling of DNA polymerase γ and the effects of mutations causing progressive ophthalmoplegia

N Atanassova, JM Fusté, S Wanrooij… - Human molecular …, 2011 - Oxford Univ Press
A large number of mutations in the gene encoding the catalytic subunit of mitochondrial DNA
polymerase γ (POLγA) cause human disease. The Y955C mutation is common and leads to
a dominant disease with progressive external ophthalmoplegia and other symptoms. The ...
Cited by 4 - Related articles - All 5 versions

Multisystem Disorder in Late-Onset Chronic Progressive External Ophthalmoplegia

G Pfeffer, S Sirrs, NK Wade… - The Canadian Journal of …, 2011 - CJNS
Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial syndrome characterized
by slowly progressive bilateral ptosis and ophthalmoparesis. Patients with CPEO have variable
presentations ranging from pure CPEO to a CPEO “plus” syndrome with other ...
Cited by 5 - Related articles - All 3 versions

Two novel mutations in PEO1 (Twinkle) gene associated with chronic external ophthalmoplegia

D Ronchi, E Fassone, A Bordoni, M Sciacco… - Journal of the …, 2011 - Elsevier
Maintenance and replication of mitochondrial DNA require the concerted action of several factors
encoded by nuclear genome. The mitochondrial helicase Twinkle is a key player of replisome
machinery. Heterozygous mutations in its coding gene, PEO1, are associated with ...
Related articles - All 3 versions

[HTML] Numb Chin Syndrome with Concomitant Painful Ophthalmoplegia Leading to a Diagnosis of Diffuse Large B Cell Lymphoma Yeong-Il Kim, MD, Jae-Young …

[HTML] from e-crt.orgC List - Cancer Res Treat, 2011 - e-crt.org
... Copyright © 2011 by the Korean Cancer Association. Numb Chin Syndrome with Concomitant
Painful Ophthalmoplegia Leading to a Diagnosis of Diffuse Large B Cell Lymphoma. ... Painful
ophthalmoplegia (PO) and concomitant numb chin syndrome (NCS) is a very rare event. ...
Related articles - Cached - All 2 versions

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