Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
about
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanismToo many numbers and complexity: time to update the classifications of neurogenetic disorders?Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Reciprocal Control of Thyroid Binding and the Pipecolate Pathway in the Brain.Amino acid synthesis deficiencies.Genetic diagnosis of Mendelian disorders via RNA sequencing.Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21.Neurometabolic disorders: Five new things.Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
P2860
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P2860
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
Alteration of ornithine metabo ...... hereditary spastic paraplegia
@ast
Alteration of ornithine metabo ...... hereditary spastic paraplegia
@en
type
label
Alteration of ornithine metabo ...... hereditary spastic paraplegia
@ast
Alteration of ornithine metabo ...... hereditary spastic paraplegia
@en
prefLabel
Alteration of ornithine metabo ...... hereditary spastic paraplegia
@ast
Alteration of ornithine metabo ...... hereditary spastic paraplegia
@en
P2093
P2860
P50
P356
P1433
P1476
Alteration of ornithine metabo ...... hereditary spastic paraplegia
@en
P2093
Chantal Tallaksen
Christel Depienne
Christelle M Durand
Cyril Goizet
Fanny Mochel
Fanny Morice-Picard
Feifei Tao
Garth Nicholson
Jean-Marie Saudubray
José L Loureiro
P2860
P304
P356
10.1093/BRAIN/AWV143
P407
P50
P577
2015-05-29T00:00:00Z