about
Genotype-phenotype correlations of amyotrophic lateral sclerosisRedox proteomics in selected neurodegenerative disorders: from its infancy to future applications.High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research.Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.Mutations in SOD1 and FUS caused juvenile-onset sporadic amyotrophic lateral sclerosis with aggressive progression.Senataxin controls meiotic silencing through ATR activation and chromatin remodeling.Screening for novel hexanucleotide repeat expansions at ALS- and FTD-associated loci.Clinical neurogenetics: amyotrophic lateral sclerosis.Advances in the Development of Disease-Modifying Treatments for Amyotrophic Lateral Sclerosis.Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.R Loops and Links to Human Disease.MicroRNA Metabolism and Dysregulation in Amyotrophic Lateral Sclerosis.Evaluation of artificial selection in Standard Poodles using whole-genome sequencing.Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin.Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic diseaseSETX sumoylation: A link between DNA damage and RNA surveillance disrupted in AOA2.Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype.Elongator and codon bias regulate protein levels in mammalian peripheral neurons.Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.A novel heterozygous SETX mutation in a patient presenting with chorea and motor neuron disease.The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases.Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression.Exploring microRNA Biomarker for Amyotrophic Lateral Sclerosis.
P2860
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P2860
description
2010 nî lūn-bûn
@nan
2010 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Senataxin mutations and amyotrophic lateral sclerosis.
@ast
Senataxin mutations and amyotrophic lateral sclerosis.
@en
Senataxin mutations and amyotrophic lateral sclerosis.
@nl
type
label
Senataxin mutations and amyotrophic lateral sclerosis.
@ast
Senataxin mutations and amyotrophic lateral sclerosis.
@en
Senataxin mutations and amyotrophic lateral sclerosis.
@nl
prefLabel
Senataxin mutations and amyotrophic lateral sclerosis.
@ast
Senataxin mutations and amyotrophic lateral sclerosis.
@en
Senataxin mutations and amyotrophic lateral sclerosis.
@nl
P2093
P2860
P1476
Senataxin mutations and amyotrophic lateral sclerosis.
@en
P2093
Arthur P Hays
Catarina M Quinzii
J Kirk Roberts
Lewis P Rowland
Michio Hirano
Patricia Richard
P2860
P304
P356
10.3109/17482968.2010.545952
P577
2010-12-29T00:00:00Z