(Q37186738)

18 August 2017

A mechanism for low penetrance in an ALS family with a novel SOD1 deletion (English)

1 reference

amyotrophic lateral sclerosis

18 August 2017

1 reference

11

E Rogaeva

1 reference

18 August 2017

L Zinman

1

1 reference

18 August 2017

H N Liu

2

1 reference

18 August 2017

C Sato

3

1 reference

18 August 2017

Y Wakutani

4

1 reference

18 August 2017

A F Marvelle

5

1 reference

18 August 2017

D Moreno

6

1 reference

18 August 2017

K E Morrison

7

1 reference

18 August 2017

K L Mohlke

8

1 reference

18 August 2017

J Bilbao

9

1 reference

18 August 2017

J Robertson

10

1 reference

18 August 2017

language of work or name

English

0 references

publication date

1 March 2009

1 reference

18 August 2017

7

1 reference

inferred from page(s)

published in

Neurology

1 reference

18 August 2017

72

1 reference

18 August 2017

1153-1159

1 reference

18 August 2017

13

1 reference

describes a project that uses

18 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2680064/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approach.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680064

Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680064

ESEfinder: A web resource to identify exonic splicing enhancers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680064

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680064

From Charcot to Lou Gehrig: deciphering selective motor neuron death in ALS

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680064

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680064

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680064

A catalogue of splice junction sequences

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680064

An immunological epitope selective for pathological monomer-misfolded SOD1 in ALS.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680064

Sporadic amyotrophic lateral sclerosis and breast cancer: Hyaline conglomerate inclusions lead to identification of SOD1 mutation

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680064

Alternative splicing in disease and therapy

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680064

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680064

Multiple transcripts of the human Cu,Zn superoxide dismutase gene.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680064

Amyotrophic lateral sclerosis associated with genetic abnormalities in the gene encoding Cu/Zn superoxide dismutase: molecular pathology of five new cases, and comparison with previous reports and 73 sporadic cases of ALS.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680064

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2680064

Aberrant splicing of human Cu/Zn superoxide dismutase (SOD1) RNA transcripts

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19332692

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19332692

12 December 2020

inferred from PubMed ID database lookup

Evidence that TDP-43 is not the major ubiquitinated target within the pathological inclusions of amyotrophic lateral sclerosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19332692

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1212/01.WNL.0000345363.65799.35

1 reference

18 August 2017

1 reference

18 August 2017

1 reference