(Q47716521)

5 February 2018

title

No association between VAPB mutations and familial or sporadic ALS in Sweden, Portugal and Iceland (English)

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5 February 2018

amyotrophic lateral sclerosis

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2

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5 February 2018

Mamede de Carvalho

6

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5 February 2018

Caroline Ingre

object named as

Caroline Ingre

1

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Olof Danielsson

object named as

Olof Danielsson

5

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Peter M Andersen

8

object named as

Peter M Andersen

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5 February 2018

Anna Birve

3

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5 February 2018

Rayomand Press

4

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5 February 2018

Grétar Guđmundsson

7

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5 February 2018

publication date

23 August 2013

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5 February 2018

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

published in

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5 February 2018

volume

14

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5 February 2018

issue

7-8

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5 February 2018

page(s)

620-627

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5 February 2018

Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy

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1 reference

https://api.crossref.org/works/10.3109%2F21678421.2013.822515

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

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Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?

21 January 2018

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

21 January 2018

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Expanding the phenotypes of the Pro56Ser VAPB mutation: proximal SMA with dysautonomia.

21 January 2018

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

21 January 2018

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

21 January 2018

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Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins

21 January 2018

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Identification of a human homologue of the vesicle-associated membrane protein (VAMP)-associated protein of 33 kDa (VAP-33): a broadly expressed protein that binds to VAMP

21 January 2018

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https://api.crossref.org/works/10.3109%2F21678421.2013.822515

ERG30, a VAP-33-related protein, functions in protein transport mediated by COPI vesicles

21 January 2018

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Motor neuron disease-associated mutant vesicle-associated membrane protein-associated protein (VAP) B recruits wild-type VAPs into endoplasmic reticulum-derived tubular aggregates.

21 January 2018

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Vesicle associated membrane protein B (VAPB) is decreased in ALS spinal cord.

21 January 2018

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Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis

21 January 2018

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Heritability of brain ventricle volume: converging evidence from inconsistent results

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A method and server for predicting damaging missense mutations

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

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SMART, a simple modular architecture research tool: identification of signaling domains

21 January 2018

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PROSITE, a protein domain database for functional characterization and annotation

21 January 2018

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

21 January 2018

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A Survey of Exact Inference for Contingency Tables

21 January 2018

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ALS-linked P56S-VAPB, an aggregated loss-of-function mutant of VAPB, predisposes motor neurons to ER stress-related death by inducing aggregation of co-expressed wild-type VAPB.

21 January 2018

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The amyotrophic lateral sclerosis 8 protein VAPB is cleaved, secreted, and acts as a ligand for Eph receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F21678421.2013.822515

Sporadic ALS is not associated with VAPB gene mutations in Southern Italy

21 January 2018

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Evidence for an oligogenic basis of amyotrophic lateral sclerosis

21 January 2018

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Proposed criteria for familial amyotrophic lateral sclerosis

21 January 2018

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10.3109/21678421.2013.822515

21 January 2018

Identifiers

DOI

1 reference

5 February 2018

1 reference

5 February 2018