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A neurodegenerative perspective on mitochondrial optic neuropathiesEarly-onset Behr syndrome due to compound heterozygous mutations in OPA1Dominant optic atrophy.The optic nerve: a "mito-window" on mitochondrial neurodegenerationSubclinical multisystem neurologic disease in "pure" OPA1 autosomal dominant optic atrophyBehr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 GeneSpastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.Dominant optic atrophy, OPA1, and mitochondrial quality control: understanding mitochondrial network dynamics.Disturbed mitochondrial dynamics and neurodegenerative disorders.'Behr syndrome' with OPA1 compound heterozygote mutations.Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
P2860
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P2860
description
2011 nî lūn-bûn
@nan
2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Heterozygous OPA1 mutations in Behr syndrome
@ast
Heterozygous OPA1 mutations in Behr syndrome
@en
Heterozygous OPA1 mutations in Behr syndrome
@nl
type
label
Heterozygous OPA1 mutations in Behr syndrome
@ast
Heterozygous OPA1 mutations in Behr syndrome
@en
Heterozygous OPA1 mutations in Behr syndrome
@nl
prefLabel
Heterozygous OPA1 mutations in Behr syndrome
@ast
Heterozygous OPA1 mutations in Behr syndrome
@en
Heterozygous OPA1 mutations in Behr syndrome
@nl
P2093
P50
P3181
P356
P1433
P1476
Heterozygous OPA1 mutations in Behr syndrome
@en
P2093
Antoine Layet
Cecilia Marelli
Etienne Brissaud
Patrizia Amati-Bonneau
P304
e169; author reply e170
P3181
P356
10.1093/BRAIN/AWQ306
P407
P577
2011-04-01T00:00:00Z