Genetic studies of amyotrophic lateral sclerosis: controversies and perspectives (Q37358932)

19 August 2017

title

Genetic studies of amyotrophic lateral sclerosis: controversies and perspectives (English)

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amyotrophic lateral sclerosis

19 August 2017

main subject

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Ammar Al-Chalabi

2

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author name string

Ana Beleza-Meireles

series ordinal

1

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19 August 2017

publication date

1 February 2009

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Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders

19 August 2017

published in

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19 August 2017

volume

10

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19 August 2017

issue

1

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19 August 2017

page(s)

1-14

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El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

19 August 2017

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Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q.

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Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis

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Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

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Increased glutamine synthetase but normal EAAT2 expression in platelets of ALS patients

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A caspase-3-cleaved fragment of the glial glutamate transporter EAAT2 is sumoylated and targeted to promyelocytic leukemia nuclear bodies in mutant SOD1-linked amyotrophic lateral sclerosis

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Deletion of the hypoxia-response element in the vascular endothelial growth factor promoter causes motor neuron degeneration.

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VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death

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Vascular endothelial growth factor protects spinal cord motoneurons against glutamate-induced excitotoxicity via phosphatidylinositol 3-kinase.

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A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis

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A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis

21 January 2018

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Mutations in the gene encoding human persyn are not associated with amyotrophic lateral sclerosis or familial Parkinson's disease

21 January 2018

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Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND).

21 January 2018

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Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.

21 January 2018

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Amyotrophic lateral sclerosis, lead, and genetic susceptibility: polymorphisms in the delta-aminolevulinic acid dehydratase and vitamin D receptor genes

21 January 2018

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Mutations in the lysyl oxidase gene are not associated with amyotrophic lateral sclerosis

21 January 2018

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Paraoxonase promoter and intronic variants modify risk of sporadic amyotrophic lateral sclerosis

21 January 2018

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Characterization of human angiogenin variants implicated in amyotrophic lateral sclerosis.

21 January 2018

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ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis

21 January 2018

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Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis

21 January 2018

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The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.

21 January 2018

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Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons

21 January 2018

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Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease

21 January 2018

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SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity

21 January 2018

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Deleted 4977-bp mitochondrial DNA mutation is associated with sporadic amyotrophic lateral sclerosis: a hospital-based case-control study.

21 January 2018

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Mitochondrial DNA from platelets of sporadic ALS patients restores normal respiratory functions in rho(0) cells

21 January 2018

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Single-cell analysis of mtDNA in amyotrophic lateral sclerosis: towards the characterization of individual neurons in neurodegenerative disorders

21 January 2018

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21 January 2018

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21 January 2018

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The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

21 January 2018

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Apolipoprotein E genotyping in sporadic amyotrophic lateral sclerosis: evidence for a major influence on the clinical presentation and prognosis

21 January 2018

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Lack of association between apolipoprotein E genotype and sporadic amyotrophic lateral sclerosis.

21 January 2018

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Disruption of the CNTF gene results in motor neuron degeneration.

21 January 2018

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21 January 2018

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21 January 2018

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Hexosaminidase A deficiency is an uncommon cause of a syndrome mimicking amyotrophic lateral sclerosis

21 January 2018

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A polymorphism in the poliovirus receptor gene differs in motor neuron disease

21 January 2018

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Large upward bias in estimation of locus-specific effects from genomewide scans

21 January 2018

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Large-scale pathways-based association study in amyotrophic lateral sclerosis

21 January 2018

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The road to genome-wide association studies

21 January 2018

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Initial sequencing and analysis of the human genome

21 January 2018

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Power to detect risk alleles using genome-wide tag SNP panels

21 January 2018

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Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

21 January 2018

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Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data

21 January 2018

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Universal false discovery rate estimation methodology for genome-wide association studies

21 January 2018

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Whole-genome analysis of sporadic amyotrophic lateral sclerosis

21 January 2018

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ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study

21 January 2018

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A genome-wide association study of sporadic ALS in a homogenous Irish population

21 January 2018

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Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis

21 January 2018

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Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes

21 January 2018

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Genomic structural variation and schizophrenia

21 January 2018

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Differential characterization of three alternative spliced isoforms of DPPX.

21 January 2018

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Biostatistical aspects of genome-wide association studies

21 January 2018

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Assessing the performance of the haplotype block model of linkage disequilibrium

21 January 2018

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False positives and false negatives in genome scans

21 January 2018

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21 January 2018

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21 January 2018

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Bayesian models based on test statistics for multiple hypothesis testing problems

21 January 2018

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The future of association studies: gene-based analysis and replication

21 January 2018

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On the allelic spectrum of human disease

21 January 2018

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The allelic architecture of human disease genes: common disease-common variant... or not?

21 January 2018

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Patterns of age-specific means and genetic variances of mortality rates predicted by the mutation-accumulation theory of ageing.

21 January 2018

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The shaping of senescence in the wild

21 January 2018

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Population genetics models of common diseases

21 January 2018

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21 January 2018

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How many diseases does it take to map a gene with SNPs?

21 January 2018

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Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

21 January 2018

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Copy-number variation and association studies of human disease

21 January 2018

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Mapping and sequencing of structural variation from eight human genomes

21 January 2018

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A gene expression profile of Alzheimer's disease

21 January 2018

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Heritable genetic variation via mutation-selection balance: Lerch's zeta meets the abdominal bristle

21 January 2018

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Influence of dominance, leptokurtosis and pleiotropy of deleterious mutations on quantitative genetic variation at mutation-selection balance

21 January 2018

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A stochastic model concerning the maintenance of genetic variability in quantitative characters

21 January 2018

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Medical sequencing at the extremes of human body mass

21 January 2018

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Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

21 January 2018

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Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen

21 January 2018

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Gene expression profiling toward understanding of ALS pathogenesis

21 January 2018

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Differential expression of molecular motors in the motor cortex of sporadic ALS

21 January 2018

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Genetics of motor neuron disease

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Mutations in dynein link motor neuron degeneration to defects in retrograde transport

21 January 2018

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Intron 7 retention and exon 9 skipping EAAT2 mRNA variants are not associated with amyotrophic lateral sclerosis

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Lead exposure as a risk factor for Amyotrophic Lateral Sclerosis

21 January 2018

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TDP-43 in differential diagnosis of motor neuron disorders

21 January 2018

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Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis

21 January 2018

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Amyotrophic lateral sclerosis in an urban setting

21 January 2018

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Adjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix

21 January 2018

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The Association Between H63D Mutations in HFE and Amyotrophic Lateral Sclerosis in a Dutch Population

21 January 2018

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Association of polymorphisms in vascular endothelial growth factor gene with the age of onset of amyotrophic lateral sclerosis

21 January 2018

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No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders

21 January 2018

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Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis

21 January 2018

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Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: Homozygous naip deletion in a sporadic case

21 January 2018

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10.1080/17482960802585469

21 January 2018

Identifiers

DOI

1 reference

19 August 2017

1 reference