A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis (Q42937244)

11 November 2017

A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis (English)

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amyotrophic lateral sclerosis

11 November 2017

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7

Peter M Andersen

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11 November 2017

Anna Birve

1

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11 November 2017

Christoph Neuwirth

2

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11 November 2017

Markus Weber

3

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11 November 2017

Stefan L Marklund

4

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11 November 2017

Ann-Charloth Nilsson

5

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11 November 2017

Per Andreas Jonsson

6

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11 November 2017

13 August 2010

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11 November 2017

Human Molecular Genetics

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11 November 2017

19

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11 November 2017

4201-4206

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11 November 2017

21

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

11 November 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ338

Genetics of motor neuron disorders: new insights into pathogenic mechanisms

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDQ338

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDQ338

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ338

Current status of SOD1 mutations in familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ338

Transgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ338

CuZn-superoxide dismutase, extracellular superoxide dismutase, and glutathione peroxidase in blood from individuals homozygous for Asp90Ala CuZu-superoxide dismutase mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ338

Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ338

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ338

Exon 5 encoded domain is not required for the toxic function of mutant SOD1 but essential for the dismutase activity: identification and characterization of two new SOD1 mutations associated with familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ338

Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ338

Alternative splicing: multiple control mechanisms and involvement in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ338

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ338

Long-range control of gene expression: emerging mechanisms and disruption in disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ338

Minute quantities of misfolded mutant superoxide dismutase-1 cause amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ338

Proteasome inhibition enhances the stability of mouse Cu/Zn superoxide dismutase with mutations linked to familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ338

Rapid disease progression correlates with instability of mutant SOD1 in familial ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ338

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ338

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ338

ALSOD: The Amyotrophic Lateral Sclerosis Online Database

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ338

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ338

21 January 2018

Identifiers

DOI

10.1093/HMG/DDQ338

1 reference

11 November 2017

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