Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
about
What we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseasesDelving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyBehr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 GeneGenetic and phenotypic characterization of complex hereditary spastic paraplegiaAdult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.Compound Heterozygote Mutation of C12orf65 Causes Distal Motor Neuropathy and Optic AtrophyMitochondrial protein synthesis: figuring the fundamentals, complexities and complications, of mammalian mitochondrial translation.Autopsy case of the C12orf65 mutation in a patient with signs of mitochondrial dysfunction.Next-generation sequencing and genetic diagnosis of Charcot-Marie-Tooth disease.Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.
P2860
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P2860
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
description
2013 nî lūn-bûn
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name
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
@en
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
@nl
type
label
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
@en
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
@nl
prefLabel
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
@en
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
@nl
P2093
P2860
P50
P356
P1476
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
@en
P2093
Annapurna Chalasani
Arianna Tucci
Elisabeth Preza
Henry Houlden
Iain Hargreaves
John M Land
Mary M Reilly
Robert D S Pitceathly
Sebastian Brandner
P2860
P304
P356
10.1136/JNNP-2013-306387
P407
P577
2013-11-06T00:00:00Z