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C12orf65 gene
Known as:
C12ORF65
, CHROMOSOME 12 OPEN READING FRAME 65
, FLJ38663
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National Institutes of Health
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches
N. Jurkute
,
A. Majander
,
+8 authors
P. Yu-Wai-Man
European Journal of Human Genetics
2018
Corpus ID: 52081188
:
2017
2017
Autopsy case of the C12orf65 mutation in a patient with signs of mitochondrial dysfunction
H. Nishihara
,
M. Omoto
,
+7 authors
T. Kanda
Neurology: Genetics
2017
Corpus ID: 25254836
Objective: To describe the autopsy case of a patient with a homozygous 2-base deletion, c171_172delGA (p.N58fs), in the C12orf65…
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2015
2015
Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome
E. Imagawa
,
A. Fattal-Valevski
,
+7 authors
N. Matsumoto
Journal of Neurology, Neurosurgery & Psychiatry
2015
Corpus ID: 38252333
Background Leigh syndrome (LS) is an early-onset progressive neurodegenerative disorder associated with mitochondrial dysfunction…
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2015
2015
Response to “Ribosome Rescue and Translation Termination at Non-standard Stop Codons by ICT1 in Mammalian Mitochondria”
Z. Chrzanowska-Lightowlers
,
R. Lightowlers
PLoS genetics
2015
Corpus ID: 13921142
In a recent paper published by Akabane et al. [1], a homologous mitochondrial translation system was supplemented with ICT1, the…
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2015
2015
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease
M. Wesołowska
,
G. Gorman
,
+10 authors
Z. Chrzanowska-Lightowlers
Journal of neuromuscular diseases
2015
Corpus ID: 11943812
Background: Mitochondrial disease can present at any age, with dysfunction in almost any tissue making diagnosis a challenge. It…
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Highly Cited
2014
Highly Cited
2014
Ribosome Rescue and Translation Termination at Non-Standard Stop Codons by ICT1 in Mammalian Mitochondria
Shiori Akabane
,
T. Ueda
,
K. Nierhaus
,
N. Takeuchi
PLoS genetics
2014
Corpus ID: 16854653
Release factors (RFs) govern the termination phase of protein synthesis. Human mitochondria harbor four different members of the…
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2014
2014
Delineation of C12orf65-related phenotypes: a genotype–phenotype relationship
R. Spiegel
,
H. Mandel
,
+10 authors
V. Meiner
European Journal of Human Genetics
2014
Corpus ID: 1199878
C12orf65 participates in the process of mitochondrial translation and has been shown to be associated with a spectrum of…
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2013
2013
Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.
R. Buchert
,
S. Uebe
,
+7 authors
R. Abou Jamra
European journal of medical genetics
2013
Corpus ID: 2258528
Highly Cited
2012
Highly Cited
2012
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)
H. Shimazaki
,
Y. Takiyama
,
+13 authors
I. Nakano
Journal of Medical Genetics
2012
Corpus ID: 206997376
Background Autosomal recessive hereditary spastic paraplegias (AR-HSP) constitute a heterogeneous group of neurodegenerative…
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Highly Cited
2010
Highly Cited
2010
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
H. Antonicka
,
E. Ostergaard
,
+8 authors
E. Shoubridge
American journal of human genetics
2010
Corpus ID: 21656812
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