Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias
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A. Al-Chalabi | C. Shaw | A. Shatunov | S. Topp | K. Morrison | P. Shaw | A. Pittman | A. Iacoangeli | A. Al Khleifat | Sarah Morgan | Bradley N. Smith | S. Opie-Martin | P. Mehta | A. Jones
[1] N. Pearce,et al. The influence of genetic mutations on the multistep process in ALS (S4.004) , 2018 .
[2] A. Al-Chalabi,et al. Amyotrophic lateral sclerosis , 2017, The Lancet.
[3] A. Al-Chalabi. Perspective: Don't keep it in the family , 2017, Nature.
[4] Ashley R. Jones,et al. A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK , 2017, Brain : a journal of neurology.
[5] D. Goldstein,et al. Genetic epidemiology of motor neuron disease-associated variants in the Scottish population , 2017, Neurobiology of Aging.
[6] Annelot M. Dekker,et al. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis , 2016, Nature Genetics.
[7] Marie-Claude Babron,et al. Clinical and demographic factors and outcome of amyotrophic lateral sclerosis in relation to population ancestral origin , 2016, European Journal of Epidemiology.
[8] Brittany N. Lasseigne,et al. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways , 2015, Science.
[9] N. Pearce,et al. Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study , 2014, The Lancet Neurology.
[10] Carl D Langefeld,et al. Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1 , 2013, Neurobiology of Aging.
[11] O. Hardiman,et al. Absence of consensus in diagnostic criteria for familial neurodegenerative diseases , 2012, Journal of Neurology, Neurosurgery & Psychiatry.
[12] Bruce L. Miller,et al. Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS , 2011, Neuron.
[13] Ammar Al-Chalabi,et al. Clinical genetics of amyotrophic lateral sclerosis: what do we really know? , 2011, Nature Reviews Neurology.
[14] C. Lewis,et al. Modelling the Effects of Penetrance and Family Size on Rates of Sporadic and Familial Disease , 2011, Human Heredity.
[15] Leonard H van den Berg,et al. Population based epidemiology of amyotrophic lateral sclerosis using capture–recapture methodology , 2011, Journal of Neurology, Neurosurgery & Psychiatry.
[16] O. Hardiman,et al. Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis , 2010, Journal of Neurology, Neurosurgery & Psychiatry.
[17] P. Visscher,et al. Sporadic cases are the norm for complex disease , 2010, European Journal of Human Genetics.
[18] P. Andersen,et al. Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis , 2009, Proceedings of the National Academy of Sciences.
[19] A. Morris,et al. Thioredoxin reductase 1 haplotypes modify familial amyotrophic lateral sclerosis onset. , 2009, Free radical biology & medicine.
[20] P. Sham,et al. Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality , 2007, Neurogenetics.
[21] J. Haines,et al. Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis , 2004, Neurogenetics.
[22] M. Swash,et al. Comparison of sporadic and familial disease amongst 580 cases of motor neuron disease. , 1988, Journal of neurology, neurosurgery, and psychiatry.
[23] Cedric A. B. Smith,et al. Introduction to Quantitative Genetics , 1960 .
[24] L. Kurland,et al. Epidemiologic Investigations of Amyotrophic Lateral Sclerosis , 1955, Neurology.
[25] L. Kurland,et al. Epidemiologic Investigations of Amyotrophic Lateral Sclerosis , 1954, Neurology.
[26] L. Kurland,et al. Epidemiologic Investigations of Amyotrophic Lateral Sclerosis , 1954, Neurology.
[27] R. Mitra,et al. ALS onset is influenced by the burden of rare variants in known ALS genes , 2015 .
[28] A. Ludolph,et al. Amyotrophic lateral sclerosis. , 2012, Current opinion in neurology.
[29] A. Paul,et al. THRESHOLD CHARACTERS , 2008 .
[30] Till Acker,et al. Deletion of the hypoxia-response element in the vascular endothelial growth factor promoter causes motor neuron degeneration , 2001, Nature Genetics.
[31] L. Kurland,et al. Motor neuron diseases : research on amyotrophic lateral sclerosis and related disorders , 1968 .
[32] L. Penrose. The problem of anticipation in pedigrees of dystrophia myotonica. , 1948, Annals of eugenics.