Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
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Functions of Rab Proteins at Presynaptic SitesMutations in the Human AAA+ Chaperone p97 and Related DiseasesNEK1 variants confer susceptibility to amyotrophic lateral sclerosisGenetic testing in ALS: A survey of current practices.Genome at juncture of early human migration: a systematic analysis of two whole genomes and thirteen exomes from Kuwaiti population subgroup of inferred Saudi Arabian tribe ancestry.High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia ContinuumAn exploratory spatial analysis of ALS incidence in Ireland over 17.5 years (1995-July 2013).A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UKAmyotrophic lateral sclerosis patient iPSC-derived astrocytes impair autophagy via non-cell autonomous mechanisms.Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohortTargeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.Genetic architecture of ALS in SardiniaAmyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.Predicting prognosis in amyotrophic lateral sclerosis: a simple algorithmExome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis.The Association between C9orf72 Repeats and Risk of Alzheimer's Disease and Amyotrophic Lateral Sclerosis: A Meta-Analysis.Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.Analysis of SOD1 mutations in a Chinese population with amyotrophic lateral sclerosis: a case-control study and literature review.Clinical and demographic factors and outcome of amyotrophic lateral sclerosis in relation to population ancestral origin.ALS: Recent Developments from Genetics Studies.Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians.Genetic studies of Russian patients with amyotrophic lateral sclerosis.DCTN1 gene analysis in Chinese patients with sporadic amyotrophic lateral sclerosis.Sex differences in the prevalence of genetic mutations in FTD and ALS: A meta-analysis.Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy.Genotype-phenotype study in patients with VCP valosin-containing protein mutations associated with multisystem proteinopathy.215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands.The evolving genetic risk for sporadic ALS.Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.Clustering of Neuropsychiatric Disease in First-Degree and Second-Degree Relatives of Patients With Amyotrophic Lateral Sclerosis.Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center.Mutation Screening of the CHCHD10 Gene in Chinese Patients with Amyotrophic Lateral Sclerosis.The segmental diffusivity profile of amyotrophic lateral sclerosis associated white matter degeneration.Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS.
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Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
description
article científic
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article scientifique
@fr
articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 23 July 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
@en
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
@nl
type
label
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
@en
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
@nl
prefLabel
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
@en
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
@nl
P2093
P2860
P50
P1476
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.
@en
P2093
Colette G Donaghy
Elaine M Kenny
Kevin P Kenna
Mark Heverin
Marwa Elamin
Paul Cormican
P2860
P304
P356
10.1136/JMEDGENET-2013-101795
P407
P577
2013-07-23T00:00:00Z