Homozygous SMN2 deletion is a protective factor in the Swedish ALS population (Q35899380)

11 August 2017

Homozygous SMN2 deletion is a protective factor in the Swedish ALS population (English)

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amyotrophic lateral sclerosis

11 August 2017

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Caroline Ingre

2

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Peter M Andersen

10

object named as

Peter M Andersen

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11 August 2017

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Philippe Corcia

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11 August 2017

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Patrick Vourc'h

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11 August 2017

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Christian R Andres

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11 August 2017

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William Camu

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11 August 2017

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Catherine Antar

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11 August 2017

Charlotte Veyrat-Durebex

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object named as

Charlotte Veyrat-Durebex

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11 August 2017

Yves-Olivier Guettard

8

object named as

Yves-Olivier Guettard

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11 August 2017

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Julien Praline

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11 August 2017

Helene Blasco

3

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11 August 2017

Rayomand Press

4

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11 August 2017

language of work or name

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25 January 2012

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European Journal of Human Genetics

11 August 2017

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5

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11 August 2017

588-591

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https://scigraph.springernature.com/pub.10.1038/ejhg.2011.255

11 August 2017

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cites work

Advanced statistical methods to study the effects of gastric tube and non-invasive ventilation on functional decline and survival in amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330228

Recent advances in the genetics of amyotrophic lateral sclerosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330228

A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330228

The epidemiology of ALS and the role of population-based registries

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330228

APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330228

Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330228

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330228

Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330228

Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330228

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330228

Genetics. The elusive ALS genes

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330228

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3330228

SMN1 gene, but not SMN2, is a risk factor for sporadic ALS

24 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.255

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.255

Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS

21 January 2018

1 reference

12 December 2020

Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): a potential susceptibility factor for adult-onset lower motor neuron disease

1 reference

12 December 2020

Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease

1 reference

12 December 2020

De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

1 reference

12 December 2020

Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease

1 reference

12 December 2020

Differential SMN2 expression associated with SMA severity

1 reference

12 December 2020

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

1 reference

12 December 2020

Spinal muscular atrophy: the RNP connection

1 reference

12 December 2020

Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis

1 reference

12 December 2020

Respiratory onset in an ALS family with L144F SOD1 mutation

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2011.255

1 reference

Dimensions Publication ID

11 August 2017

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1 reference

11 August 2017

1 reference