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Chronic progressive external ophthalmoplegia
Known as:
Mitochondrial Ocular Myopathy
, Dystrophy, Ocular Muscular
, Ocular Myopathy, Mitochondrial
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A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged…
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National Institutes of Health
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Related topics
Related topics
16 relations
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
External Ophthalmoplegia
In Blood
Kearns-Sayre syndrome
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Narrower (3)
Gaze Palsy, Familial Horizontal, with Progressive Scoliosis
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4
Broader (2)
Ocular Motility Disorders
Ophthalmoplegia
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
POLG-related disorders and their neurological manifestations
S. Rahman
,
W. Copeland
Nature Reviews Neurology
2018
Corpus ID: 53947445
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for replication of the mitochondrial genome. Mutations…
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Highly Cited
2005
Highly Cited
2005
Are External Shocks Responsible for the Instability of Output in Low-Income Countries?
Claudio E. Raddatz
2005
Corpus ID: 55218765
External shocks, such as commodity price fluctuations, natural disasters, and the role of the international economy, are often…
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Highly Cited
2001
Highly Cited
2001
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
J. N. Spelbrink
,
Fang-yuan Li
,
+18 authors
C. Larsson
Nature Genetics
2001
Corpus ID: 22237030
The gene products involved in mammalian mitochondrial DNA (mtDNA) maintenance and organization remain largely unknown. We report…
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Highly Cited
2001
Highly Cited
2001
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
G. Goethem
,
B. Dermaut
,
A. Löfgren
,
J. Martin
,
C. Broeckhoven
Nature Genetics
2001
Corpus ID: 35417835
Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondrial DNA (mtDNA) deletions are…
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Highly Cited
2001
Highly Cited
2001
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
A. Yoshida
,
K. Kobayashi
,
+14 authors
T. Endo
Developmental cell
2001
Corpus ID: 30923233
Muscle-eye-brain disease (MEB) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular…
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Highly Cited
2000
Highly Cited
2000
Role of adenine nucleotide translocator 1 in mtDNA maintenance.
J. Kaukonen
,
J. K. Juselius
,
+6 authors
A. Suomalainen
Science
2000
Corpus ID: 24697324
Autosomal dominant progressive external ophthalmoplegia is a rare human disease that shows a Mendelian inheritance pattern, but…
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Highly Cited
1998
Highly Cited
1998
Phylogenetic utility of the external transcribed spacer (ETS) of 18S-26S rDNA: congruence of ETS and ITS trees of Calycadenia (Compositae).
B. Baldwin
,
S. Markos
Molecular phylogenetics and evolution
1998
Corpus ID: 23263949
The 3' region of the external transcribed spacer (ETS) of 18S-26S nuclear ribosomal DNA was sequenced in 19 representatives of…
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Highly Cited
1990
Highly Cited
1990
A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
Y. Goto
,
I. Nonaka
,
S. Horai
Nature
1990
Corpus ID: 4254805
MITOCHONDRIAL encephalomyopathies are usually divided into three distinct clinical subgroups: (1) mitochondrial myopathy…
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Highly Cited
1989
Highly Cited
1989
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.
C. Moraes
,
S. Dimauro
,
+7 authors
S. Servidei
The New England journal of medicine
1989
Corpus ID: 33496889
We investigated the correlations of deletions of mitochondrial DNA in skeletal muscle with clinical manifestations of…
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Highly Cited
1989
Highly Cited
1989
A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA.
E. Schon
,
R. Rizzuto
,
C. Moraes
,
H. Nakase
,
M. Zeviani
,
S. Dimauro
Science
1989
Corpus ID: 40749880
Kearns-Sayre syndrome (KSS) and progressive external ophthalmoplegia (PEO) are related neuromuscular disorders characterized by…
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