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SLC25A46 gene
Known as:
SLC25A46
, SOLUTE CARRIER FAMILY 25, MEMBER 46
, solute carrier family 25 member 46
National Institutes of Health
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy.
Giacomo Bitetto
,
M. Malaguti
,
+15 authors
A. Di Fonzo
Parkinsonism & Related Disorders
2020
Corpus ID: 215411213
2020
2020
Neuron-specific knockdown of solute carrier protein SLC25A46a induces locomotive defects, an abnormal neuron terminal morphology, learning disability, and shortened lifespan
Md. Saheb Ali
,
Kojiro Suda
,
Ryosuke Kowada
,
Ibuki Ueoka
,
H. Yoshida
,
M. Yamaguchi
IBRO Reports
2020
Corpus ID: 212551960
2018
2018
Insights into the genotype‐phenotype correlation and molecular function of SLC25A46
Alexander J Abrams
,
Flavia Fontanesi
,
+7 authors
S. Zuchner
Human Mutation
2018
Corpus ID: 52146388
Recessive SLC25A46 mutations cause a spectrum of neurodegenerative disorders with optic atrophy as a core feature. We report a…
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2018
2018
Cerebellar atrophy is common among mitochondrial disorders
J. Finsterer
,
S. Zarrouk-Mahjoub
Metabolic brain disease
2018
Corpus ID: 13746815
2017
2017
Novel pathogenic SLC25A46 splice‐site mutation causes an optic atrophy spectrum disorder
Minh Nhut Nguyen
,
Iris B W Boesten
,
+4 authors
Mike Gerards
Clinical Genetics
2017
Corpus ID: 55384
The inherited optic neuropathies comprise a group of genetically heterogeneous disorders causing optic nerve dysfunction. In some…
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2017
2017
Development of a novel Drosophila model for Charcot-Marie-Tooth disease targeted to the SLC25A46 gene
Kojiro Suda
,
Ibuki Ueoka
,
Ryo Tanaka
,
Ryuta Okunushi
,
H. Yoshida
,
M. Yamaguchi
2017
Corpus ID: 90742379
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