(Q37944428)

25 August 2017

title

Clinical genetics of amyotrophic lateral sclerosis: what do we really know? (English)

1 reference

amyotrophic lateral sclerosis

25 August 2017

main subject

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Ammar Al-Chalabi

2

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Peter M Andersen

series ordinal

1

object named as

Peter M Andersen

1 reference

25 August 2017

language of work or name

English

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publication date

11 October 2011

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25 August 2017

published in

Nature Reviews Neurology

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25 August 2017

volume

7

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25 August 2017

issue

11

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25 August 2017

page(s)

603-615

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Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene

25 August 2017

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31 March 2020

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Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes

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A mutation that creates a pseudoexon in SOD1 causes familial ALS.

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Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury

31 March 2020

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31 March 2020

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A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

31 March 2020

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DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

31 March 2020

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Senataxin mutations and amyotrophic lateral sclerosis

31 March 2020

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An unusual case of familial ALS and cerebellar ataxia

31 March 2020

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Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis

31 March 2020

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31 March 2020

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31 March 2020

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31 March 2020

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TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea.

31 March 2020

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Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease.

31 March 2020

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Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Genetic contribution of FUS to frontotemporal lobar degeneration

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

New VAPB deletion variant and exclusion of VAPB mutations in familial ALS.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Characterization of the Properties of a Novel Mutation in VAPB in Familial Amyotrophic Lateral Sclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Mutations of optineurin in amyotrophic lateral sclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Screening of OPTN in French familial amyotrophic lateral sclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Ataxin-2 repeat-length variation and neurodegeneration

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Motor neuron disease and dementia reported among 13 members of a single family

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

An estimate of amyotrophic lateral sclerosis heritability using twin data.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Natural history of amyotrophic lateral sclerosis in a database population Validation of a scoring system and a model for survival prediction

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Flail arm syndrome: a clinical variant of amyotrophic lateral sclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Longitudinal Gompertzian analysis of amyotrophic lateral sclerosis mortality in the U.S., 1977-1986: evidence for an inherently susceptible population subset

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

The risk to relatives of patients with sporadic amyotrophic lateral sclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Familial aggregation of amyotrophic lateral sclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Manganese-containing superoxide dismutase signal sequence polymorphism associated with sporadic motor neuron disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Distinct cerebral lesions in sporadic and 'D90A' SOD1 ALS: studies with [11C]flumazenil PET.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Exome sequencing reveals VCP mutations as a cause of familial ALS

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Huntington's disease presenting as amyotrophic lateral sclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

31 March 2020

CADASIL and ALS: a link?

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

SOD1A4V-mediated ALS: absence of a closely linked modifier gene and origination in Asia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Age and founder effect of SOD1 A4V mutation causing ALS

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS)

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Sequence variants in human neurofilament proteins: absence of linkage to familial amyotrophic lateral sclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Analysis of the KSP repeat of the neurofilament heavy subunit in familiar amyotrophic lateral sclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Paraoxonase gene polymorphisms and sporadic ALS

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Increased incidence of the Hfe mutation in amyotrophic lateral sclerosis and related cellular consequences

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

HFE mutations are not strongly associated with sporadic ALS

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Association of APOE with age at onset of sporadic amyotrophic lateral sclerosis.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2011.150

Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis

31 March 2020

1 reference

12 December 2020

Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis

1 reference

12 December 2020

FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS.

1 reference

12 December 2020

Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations

1 reference

12 December 2020

The simulation of mendelism

1 reference

12 December 2020

Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis

1 reference

12 December 2020

10.1038/NRNEUROL.2011.150

Identifiers

DOI

1 reference

25 August 2017

1 reference