Gene discovery in amyotrophic lateral sclerosis: implications for clinical management (Q38782125)

6 September 2017

Gene discovery in amyotrophic lateral sclerosis: implications for clinical management (English)

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amyotrophic lateral sclerosis

6 September 2017

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1

Ammar Al-Chalabi

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6 September 2017

Leonard H van den Berg

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2

object named as

Leonard H van den Berg

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6 September 2017

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Jan Veldink

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6 September 2017

language of work or name

English

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publication date

16 December 2016

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6 September 2017

Nature Reviews Neurology

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6 September 2017

13

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6 September 2017

96-104

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6 September 2017

2

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https://scigraph.springernature.com/pub.10.1038/nrneurol.2016.182

6 September 2017

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Five years of GWAS discovery

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TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

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Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

21 January 2018

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Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis.

21 January 2018

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Evidence for an oligogenic basis of amyotrophic lateral sclerosis

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21 January 2018

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The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

21 January 2018

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Common polygenic variation enhances risk prediction for Alzheimer's disease

21 January 2018

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Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

21 January 2018

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Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

21 January 2018

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Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

21 January 2018

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An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study

21 January 2018

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C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice.

21 January 2018

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Full ablation of C9orf72 in mice causes immune system-related pathology and neoplastic events but no motor neuron defects

21 January 2018

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Genome editing. The new frontier of genome engineering with CRISPR-Cas9

21 January 2018

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Applications of CRISPR-Cas systems in neuroscience

21 January 2018

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Exome sequencing and complex disease: practical aspects of rare variant association studies

21 January 2018

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Amyotrophic lateral sclerosis in an urban setting

21 January 2018

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Analysis of the functional effects of a mutation in SOD1 associated with familial amyotrophic lateral sclerosis

21 January 2018

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Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients

21 January 2018

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Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients

21 January 2018

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Mutations in all five exons ofSOD-1 may cause ALS

21 January 2018

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The El Escorial criteria: Strengths and weaknesses

21 January 2018

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ALSOD: The Amyotrophic Lateral Sclerosis Online Database

21 January 2018

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A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia

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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VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient

21 January 2018

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Variation in worldwide incidence of amyotrophic lateral sclerosis: a meta-analysis

21 January 2018

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Mortality trends of amyotrophic lateral sclerosis in Norway 1951-2014: an age-period-cohort study

31 March 2020

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Heritability of Amyotrophic Lateral Sclerosis

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.182

Absence of consensus in diagnostic criteria for familial neurodegenerative diseases

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.182

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.182

Amyotrophic lateral sclerosis, frontotemporal lobar dementia, and p62: a functional convergence?

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.182

Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.182

Compound heterozygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.182

H46R SOD1 mutation is consistently associated with a relatively benign form of amyotrophic lateral sclerosis with slow progression.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.182

Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2016.182

10.1038/NRNEUROL.2016.182

31 March 2020

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6 September 2017

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