About: VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient

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About: VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient Goto Sponge Distinct Permalink

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scientific article published on 09 August 2012

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в грудні 2012 (uk) im Dezember 2012 veröffentlichter wissenschaftlicher Artikel (de) scientific article published on 09 August 2012 (en) artículu científicu espublizáu n'agostu de 2012 (ast)
publication date	wds:Q59116582-3B88575F-943D-4852-A451-B17D26C0E563
publication date	2012-08-09 00:00:00Z (xsd:dateTime)
author name string	wds:Q59116582-3081AD4B-78B4-4A32-BA9C-1F2A3FD9ADAA wds:Q59116582-5FFB0E57-AFF7-466C-8A6B-29F5FC7C3460 wds:Q59116582-78D71E2B-535C-4CA6-991F-58A1847FFF8D wds:Q59116582-8D6494B5-8D8A-48A0-AF32-75A81A6B2264 wds:Q59116582-B64D89E5-A9E8-4A16-A498-0333ED3FD0B2 wds:Q59116582-BC21C99F-F992-48F8-B581-0064FCDCD1D3
author name string	Anneke J van der Kooi Marianne de Visser Jan H Veldink Wouter van Rheenen Jelena Medic Helenius J Schelhaas
rdfs:label	VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient (en) VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient (nl)
skos:prefLabel	VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient (en) VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient (nl)
name	VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient (en) VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient (nl)
author	wds:Q59116582-15CB080B-C468-409C-8B78-4F721EFC70B4 wds:Q59116582-22EC0C26-8C8D-459D-94A0-8BE24C0755DB wds:Q59116582-83D803A4-C24A-4ECA-8474-AAC9641ABC07 wds:Q59116582-881DEA7D-92C6-4F6B-B1F1-2BF6FBB67554
author	Leonard H van den Berg Marka van Blitterswijk Max Koppers M A van Es
title	wds:Q59116582-3A2404CC-99FC-41DB-98DD-86CF27BF9175
title	VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient (en)
page(s)	wds:Q59116582-9EA8A30A-3B1F-4015-97D3-BAE8C7124FA1
page(s)	2950.e1-4
instance of	wds:Q59116582-9B100DC3-2123-4142-A312-03EB47CB6D6B
instance of	scholarly article
main subject	wds:Q59116582-69B0ABEE-934F-4A91-9E41-F820B41FB013 wds:Q59116582-92AC480E-0024-468D-A9A0-20B088CA6AAB
main subject	amyotrophic lateral sclerosis Patients
PubMed ID	wds:Q59116582-265ECC1A-E34A-4160-B93C-9791147914AE
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/22878164
PubMed ID	22878164
published in	wds:Q59116582-AD4C0857-811E-4611-915D-ACCB128A1DF7
published in	Neurobiology of Aging
issue	wds:Q59116582-F084DD24-886B-40A4-85E5-EC92C1CE2372
volume	wds:Q59116582-F1BADD3F-99E4-4D88-9F1C-0574E88B6CED
issue	12
volume	33
DOI	wds:Q59116582-F9A8FFFD-86D4-4F6A-9352-DF9D7945ED0D
DOI	http://dx.doi.org/10.1016/J.NEUROBIOLAGING.2012.07.004
DOI	10.1016/J.NEUROBIOLAGING.2012.07.004
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q59116582
is cites work of	Identification of epigenetically altered genes in sporadic amyotrophic lateral sclerosis A fruitful endeavor: modeling ALS in the fruit fly Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72-ALS. Increased levels of phosphoinositides cause neurodegeneration in a Drosophila model of amyotrophic lateral sclerosis Pathogenesis of FUS-associated ALS and FTD: insights from rodent models How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease Autophagy and Neurodegeneration: Insights from a Cultured Cell Model of ALS C9ORF72 mutations in neurodegenerative diseases Gain-of-function mutations in the ALS8 causative gene VAPB have detrimental effects on neurons and muscles Neuronal overexpression of human VAPB slows motor impairment and neuromuscular denervation in a mouse model of ALS. The genotype-phenotype landscape of familial amyotrophic lateral sclerosis in Australia. Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature. Gene discovery in amyotrophic lateral sclerosis: implications for clinical management Amyotrophic lateral sclerosis-linked mutant VAPB inclusions do not interfere with protein degradation pathways or intracellular transport in a cultured cell model Network analyses reveal novel aspects of ALS pathogenesis The genetics of amyotrophic lateral sclerosis: current insights Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Continuum OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia. Expression of microRNAs in human post-mortem amyotrophic lateral sclerosis spinal cords provides insight into disease mechanisms Atypical familial amyotrophic lateral sclerosis with initial symptoms of pain or tremor in a Chinese family harboring VAPB-P56S mutation. A context-based ABC model for literature-based discovery Why Quantification Matters: Characterization of Phenotypes at the Drosophila Larval Neuromuscular Junction A novel mutation of VAPB in one Chinese familial amyotrophic lateral sclerosis pedigree and its clinical characteristics. VAPB ER-Aggregates, A Possible New Biomarker in ALS Pathology
is cites work of	wds:Q28067147-93EC16EF-8852-4FCF-85FC-ED6C26E18EA1 wds:Q48269119-156A2B46-B271-4897-9495-B9AFC241AE14 wds:Q27324123-37EBD042-E3ED-48FF-ABF1-F59B11247FA8 wds:Q38782125-66B42A21-2FCF-4C27-B593-65E79F3A4782 wds:Q50243882-184E132E-3DFD-4B8C-BD4F-030531037199 wds:Q64095142-19FEA852-7FE2-417D-9459-6301128158B0 wds:Q90530653-B35F3D2B-3972-44F3-B8A7-ED933AD3D001 wds:Q34541013-424734A9-C9B0-47DE-B378-0D34B4B70BF7 wds:Q36908231-70244103-255C-4749-AE69-9FBF84946EDC wds:Q41821215-DC65139E-16CE-4006-9705-5A9AC06B42B8 wds:Q47673916-5C290C7A-FFFE-4751-9DB3-56BAC654EE6B wds:Q40345993-8A2D3206-9B1B-43A6-8ED2-38E631520EC7 wds:Q37187461-8EBD2BEF-1B8E-4D19-889E-A51A763C72B8 wds:Q92635935-789B90D1-9946-4E9A-91B2-C539D701751E wds:Q36601006-9DC60522-7B6C-48D8-809C-9D56605F194F wds:Q35234991-9DB4036F-C0B6-4A03-AD4C-F930A045FB29 wds:Q51601392-6613D3F9-25CB-4B1B-AC83-779A836A6E80 wds:Q33653996-A4531CDD-6BFE-4CB4-91C4-9F202C954BE6

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