Exome sequencing identifies FUS mutations as a cause of essential tremor.
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Dystonia and Tremor: The Clinical Syndromes with Isolated TremorGenotype-phenotype correlations of amyotrophic lateral sclerosisRNA-Binding Proteins in the Regulation of miRNA Activity: A Focus on Neuronal Functions'Essential tremor' or 'the essential tremors': is this one disease or a family of diseases?A loss of FUS/TLS function leads to impaired cellular proliferationMissense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremorEWS and FUS bind a subset of transcribed genes encoding proteins enriched in RNA regulatory functionsKnowledge gaps and research recommendations for essential tremor.RRM domain of ALS/FTD-causing FUS characteristic of irreversible unfolding spontaneously self-assembles into amyloid fibrils.The promise of whole-exome sequencing in medical genetics.Analysis of nuclear export sequence regions of FUS-Related RNA-binding proteins in essential tremorThe potential of LINGO-1 as a therapeutic target for essential tremor.Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.Microglia Transcriptome Changes in a Model of Depressive Behavior after Immune Challenge.SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor.A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.Blood harmane (1-methyl-9H-pyrido[3,4-b]indole) concentration in essential tremor cases in Spain.Genetic analysis of the FUS/TLS gene in essential tremor.Challenges in essential tremor genetics.Investigating the role of FUS exonic variants in essential tremorRNA-mediated toxicity in neurodegenerative diseaseFUS-linked essential tremor associated with motor dysfunction in Drosophila.The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.Next-generation sequencing in understanding complex neurological diseaseIdentification of candidate genes for familial early-onset essential tremor.Identification of FUS p.R377W in essential tremorPharmacotherapy of essential tremorTARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.Update on genetics of essential tremor.Investigating FUS variation in Parkinson's disease.The role of FUS gene variants in neurodegenerative diseases.Worming forward: amyotrophic lateral sclerosis toxicity mechanisms and genetic interactions in Caenorhabditis elegans.Assessment of Three New Loci from Genome-wide Association Study in Essential Tremor in Chinese population.Parkinsonism, movement disorders and genetics in frontotemporal dementia.Genetics of movement disorders in the next-generation sequencing era.Role of FET proteins in neurodegenerative disorders.Extra-motor abnormalities in amyotrophic lateral sclerosis: another layer of heterogeneity.Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremor.
P2860
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P2860
Exome sequencing identifies FUS mutations as a cause of essential tremor.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Exome sequencing identifies FUS mutations as a cause of essential tremor.
@ast
Exome sequencing identifies FUS mutations as a cause of essential tremor.
@en
type
label
Exome sequencing identifies FUS mutations as a cause of essential tremor.
@ast
Exome sequencing identifies FUS mutations as a cause of essential tremor.
@en
prefLabel
Exome sequencing identifies FUS mutations as a cause of essential tremor.
@ast
Exome sequencing identifies FUS mutations as a cause of essential tremor.
@en
P2093
P2860
P50
P1476
Exome sequencing identifies FUS mutations as a cause of essential tremor.
@en
P2093
Anna Szuto
Anne Noreau
Annie Levert
Cynthia V Bourassa
Geneviève Bernard
Hélène Fournier
Jean-Baptiste Rivière
John Raelson
Majid Belouchi
Michel Panisset
P2860
P304
P356
10.1016/J.AJHG.2012.07.002
P407
P50
P577
2012-08-02T00:00:00Z