Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis - Wikidata - awgldk - TriplyDB

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis

http://www.wikidata.org/entity/Q24672831

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Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.Quantitative Gait Analysis Using a Motorized Treadmill System Sensitively Detects Motor Abnormalities in Mice Expressing ATPase Defective Spastin Hereditary spastic paraplegia SPG4: what is known and not known about the disease.Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform.Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set.Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia.Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics.Modeling Axonal Defects in Hereditary Spastic Paraplegia with Human Pluripotent Stem Cells.Invited review: Microtubule severing enzymes couple atpase activity with tubulin GTPase spring loading.Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations.Truncating mutations of SPAST associated with hereditary spastic paraplegia indicate greater accumulation and toxicity of the M1 isoform of spastin.Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia.Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine.Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family.The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene.Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.Heterozygous S44L missense change of the spastin gene in amyotrophic lateral sclerosis.Hereditary spastic paraparesis and psychosis.Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes

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P2860

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis

http://www.wikidata.org/entity/Q24672831

description

2000 nî lūn-bûn

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2000 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2000 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2000年の論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年論文

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2000年论文

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name

Mutation analysis of the spast ...... hereditary spastic paraparesis

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Mutation analysis of the spast ...... hereditary spastic paraparesis

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Mutation analysis of the spast ...... hereditary spastic paraparesis

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type

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Mutation analysis of the spast ...... hereditary spastic paraparesis

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Mutation analysis of the spast ...... hereditary spastic paraparesis

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Mutation analysis of the spast ...... hereditary spastic paraparesis

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Mutation analysis of the spast ...... hereditary spastic paraparesis

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Mutation analysis of the spast ...... hereditary spastic paraparesis

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Mutation analysis of the spast ...... hereditary spastic paraparesis

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Journal of Medical Genetics

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Mutation analysis of the spast ...... hereditary spastic paraparesis

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P2093

C J McDermott

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D C Rubinsztein

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E Reid

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J C Lindsey

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J Hazan

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K D White

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K M Bushby

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M E Lusher

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P J Shaw

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R Bashir

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P2860

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3

Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro

A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q

The AAA team: related ATPases with diverse functions.

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759-65

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5036483

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10.1136/JMG.37.10.759

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10

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37

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11015453

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1757167

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