about
Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegiaA missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42)Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31Psychometric properties of functional mobility tools in hereditary spastic paraplegia and other childhood neurological conditionsPharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A.Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia.Protein degradation within mitochondria: versatile activities of AAA proteases and other peptidases.Fusing a lasting relationship between ER tubules.Membrane fusion by the GTPase atlastin requires a conserved C-terminal cytoplasmic tail and dimerization through the middle domain.Caenorhabditis elegans as a model system to study intercompartmental proteostasis: Interrelation of mitochondrial function, longevity, and neurodegenerative diseases.Primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis: discrete entities or spectrum?The genetics of hereditary spastic paraplegia and implications for drug therapy.Quantitative and functional analyses of spastin in the nervous system: implications for hereditary spastic paraplegiaThe power of yeast to model diseases of the powerhouse of the cell.Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.Role of kinesin-1 in the pathogenesis of SPG10, a rare form of hereditary spastic paraplegia.Modeling Axonal Defects in Hereditary Spastic Paraplegia with Human Pluripotent Stem Cells.Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine.Proteolipid protein 1 gene sequencing of hereditary spastic paraplegia.Reduced axonal motor protein expression in non-lesional grey matter in multiple sclerosis.The extent of axonal loss in the long tracts in hereditary spastic paraplegia.Hereditary spastic paraplegia from 1880 to 2017: an historical review.Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.Two novel mutations in the Spastin gene of Chinese patients with hereditary spastic paraplegia.Hereditary spastic paraplegia: clinical genomics and pharmacogenetic perspectives
P2860
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P2860
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
2003年论文
@zh
2003年论文
@zh-cn
name
Advances in the hereditary spastic paraplegias.
@ast
Advances in the hereditary spastic paraplegias.
@en
type
label
Advances in the hereditary spastic paraplegias.
@ast
Advances in the hereditary spastic paraplegias.
@en
prefLabel
Advances in the hereditary spastic paraplegias.
@ast
Advances in the hereditary spastic paraplegias.
@en
P1476
Advances in the hereditary spastic paraplegias.
@en
P2093
John K Fink
P304
P356
10.1016/J.EXPNEUROL.2003.08.005
P407
P478
184 Suppl 1
P577
2003-11-01T00:00:00Z