A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).
about
Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseWhat we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseasesDeficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration.Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyNovel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency.Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Delineation of C12orf65-related phenotypes: a genotype-phenotype relationshipBehr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 GeneAdult 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 AtrophyNext-generation sequencing for mitochondrial disordersNovel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.The application of next-generation sequencing in the autozygosity mapping of human recessive diseases.Ophthalmic manifestations of inherited neurodegenerative disorders.Mitochondrial 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.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.Definition of a High-Confidence Mitochondrial Proteome at Quantitative Scale.IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy.Overcoming stalled translation in human mitochondria.ER-shaping proteins are required for ER and mitochondrial network organization in motor neurons.Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.JASPAC: Japan Spastic Paraplegia Research Consortium
P2860
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P2860
A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55).
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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2012年学术文章
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name
A homozygous mutation of C12or ...... trophy and neuropathy (SPG55).
@en
A homozygous mutation of C12or ...... h optic atrophy and neuropathy
@nl
type
label
A homozygous mutation of C12or ...... trophy and neuropathy (SPG55).
@en
A homozygous mutation of C12or ...... h optic atrophy and neuropathy
@nl
prefLabel
A homozygous mutation of C12or ...... trophy and neuropathy (SPG55).
@en
A homozygous mutation of C12or ...... h optic atrophy and neuropathy
@nl
P2093
P1476
A homozygous mutation of C12or ...... trophy and neuropathy (SPG55).
@en
P2093
Chika Sakai
Hideyuki Hatakeyama
Hiroyuki Ishiura
Imaharu Nakano
Japan Spastic Paraplegia Research Consortium (JASPAC)
Junko Honda
Kumi Sakoe
Michito Namekawa
Shoji Tsuji
P304
P356
10.1136/JMEDGENET-2012-101212
P407
P577
2012-12-01T00:00:00Z