(Q34633983)

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A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.

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24 February 2020

A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias (English)

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24 February 2020

juvenile amyotrophic lateral sclerosis

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amyotrophic lateral sclerosis

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based on heuristic

inferred from title

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based on heuristic

inferred from title

2

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24 February 2020

David L. Silver

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24 February 2020

Asraf Hussain Hashmi

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24 February 2020

12

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24 February 2020

Chiea Chuen Khor

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24 February 2020

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Saima Siddiqi

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24 February 2020

Anthony Vu

3

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24 February 2020

Saad Azim

4

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24 February 2020

Atika Mansoor

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24 February 2020

Stacey Kiat Hong Tay

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24 February 2020

Sumiya Abbasi

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24 February 2020

Jamal Janjua

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24 February 2020

Sumbal Khalid

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24 February 2020

Gene W Yeo

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24 February 2020

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4 December 2014

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24 February 2020

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24 February 2020

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24 February 2020

12

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24 February 2020

e113258

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24 February 2020

copyright license

Creative Commons Attribution 4.0 International

4 December 2014

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April 2022 Public Data File from Crossref

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0 references

ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256290

7 July 2018

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256290

7 July 2018

An Italian kindred with FALS due to c.149T>C mutation in the SOD1 gene: case report of an affected family member

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256290

7 July 2018

The changing scene of amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256290

7 July 2018

RNA quality control and protein aggregates in amyotrophic lateral sclerosis: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256290

7 July 2018

An integrated map of genetic variation from 1,092 human genomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256290

7 July 2018

Exome sequencing as a tool for Mendelian disease gene discovery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256290

7 July 2018

Computational and statistical approaches to analyzing variants identified by exome sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256290

7 July 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256290

7 July 2018

Exome sequencing identifies the cause of a mendelian disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256290

7 July 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256290

7 July 2018

PLINK: a tool set for whole-genome association and population-based linkage analyses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256290

7 July 2018

The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256290

7 July 2018

Statistical features of human exons and their flanking regions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256290

7 July 2018

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256290

7 July 2018

Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4256290

7 July 2018

Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0113258

21 January 2018

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0113258

21 January 2018

Volumetric analysis reveals corticospinal tract degeneration and extramotor involvement in ALS.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0113258

21 January 2018

Identifiers

10.1371/JOURNAL.PONE.0113258

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25474699%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

2014PLoSO...9k3258S

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Europe PubMed Central

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24 February 2020

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Europe PubMed Central

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24 February 2020

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