About: Early onset Parkinsonism associated with an intronic SOD1 mutation

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scholarly article by Imen Kacem et al published May 2012 in Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) article scientifique publié en 2012 (fr) наукова стаття, опублікована в травні 2012 (uk) im Mai 2012 veröffentlichter wissenschaftlicher Artikel (de) scholarly article by Imen Kacem et al published May 2012 in Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders (en)
publication date	wds:Q58184265-140FD2FB-EBA3-49E2-80C9-DE1C8EE9A865
publication date	2012-05-01 00:00:00Z (xsd:dateTime)
cites work	wds:Q58184265-1003809A-81FB-4335-9BA6-410D44E5B784 wds:Q58184265-16D0D107-EA46-4062-99E3-A12DEC9361A4 wds:Q58184265-341DEEC2-2895-4F6D-BD26-A1CB976E6B70 wds:Q58184265-35141F83-BEE4-4F8B-B89D-E5F08A381C38 wds:Q58184265-3A7E678F-28AA-4B2B-A877-D700FBE6A2CC wds:Q58184265-3C4B9EAF-1EF0-42D5-B8C1-262DDB82CB59 wds:Q58184265-4434935D-94A7-420C-AFCB-5AABCDD38606 wds:Q58184265-4CD882F5-2CE1-47A5-8381-911A1EAB6F53 wds:Q58184265-6BAD9A3D-407D-4DB9-A7DB-E253455E26AF wds:Q58184265-6F15100C-1CC4-4E19-9F74-614D51B1ADAF wds:Q58184265-72855AD4-10C6-4D98-9F57-F51FBC51668D wds:Q58184265-AB1397B8-4383-437D-9A8F-9D4FFDE0B77B wds:Q58184265-BEB4C1B9-DC77-4E8D-AF6E-8675BA7DC948 wds:Q58184265-CE21788B-BEEA-4299-985D-D87D4CB38796 wds:Q58184265-D933A864-176D-461C-8D5C-5010D0DCFC7E wds:Q58184265-E959126E-A5A3-4E25-B250-F758B36E2859
cites work	Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia A mutation that creates a pseudoexon in SOD1 causes familial ALS. Evidence for a dopaminergic deficit in sporadic amyotrophic lateral sclerosis on positron emission scanning The combination of dopa-responsive parkinsonian syndrome and motor neuron disease Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation Extrapyramidal involvement in amyotrophic lateral sclerosis: backward falls and retropulsion Sporadic and familial parkinsonism and motor neuron disease. Aggregation of neurodegenerative disease in ALS kindreds Case-control studies on ceruloplasmin and superoxide dismutase (SOD1) in neurodegenerative diseases: a short review Chorea-ballism associated with familial amyotrophic lateral sclerosis. A clinical, genetic, and neuropathological study Amyotrophic lateral sclerosis with dementia showing clinical parkinsonism and severe degeneration of the substantia nigra: report of an autopsy case.
author name string	wds:Q58184265-17242A76-1E40-41C9-A7A8-FB32340512F8 wds:Q58184265-518B5113-3610-4964-9324-47635575B3F0 wds:Q58184265-52D80B87-28D2-4DF6-BC69-A2546FFF3147 wds:Q58184265-8442396D-3364-4904-95BB-9AC238E01E10 wds:Q58184265-E93AF277-5906-4A6E-BC84-A0F775BFB9F6
author name string	Philippe Couratier Frédéric Torny Imen Kacem Benoît Funalot Géraldine Lautrette
rdfs:label	Early onset Parkinsonism associated with an intronic SOD1 mutation (en) Early onset Parkinsonism associated with an intronic SOD1 mutation (nl)
skos:prefLabel	Early onset Parkinsonism associated with an intronic SOD1 mutation (en) Early onset Parkinsonism associated with an intronic SOD1 mutation (nl)
name	Early onset Parkinsonism associated with an intronic SOD1 mutation (en) Early onset Parkinsonism associated with an intronic SOD1 mutation (nl)
author	wds:Q58184265-503C6348-EE2D-4E64-AC29-F5ECAF2865CF
author	Peter M Andersen
title	wds:Q58184265-CD139418-F0B5-49D3-BA5E-35DAFE68F705
title	Early onset Parkinsonism associated with an intronic SOD1 mutation (en)
page(s)	wds:Q58184265-838EA2A0-E17C-4176-A2F7-B38D86CABC05
page(s)	315-317
instance of	wds:Q58184265-64141A41-E2AE-47B2-86DE-40F47C646EBB
instance of	scholarly article
main subject	wds:Q58184265-220C5451-1208-41BF-B7B7-1CE3616F1C46 wds:Q58184265-5D953421-7D70-4354-A818-50B8F6566D8E
main subject	parkinsonian syndrome Parkinson's disease
PubMed ID	wds:Q58184265-2040FFCF-137B-4086-9E0A-F8FFE8A62F07
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/22214312
PubMed ID	22214312
published in	wds:Q58184265-88915AF3-A4EC-483B-B453-EF4FF66D7E02
published in	Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders
issue	wds:Q58184265-3B6385C5-A7EE-4798-98B9-8ADF7CA39E34
volume	wds:Q58184265-51B40C02-FDFF-4E9A-971E-C04C24A216B7
issue	3
volume	13
DOI	wds:Q58184265-7885BBBF-B770-4890-8431-FE73678769BF
DOI	http://dx.doi.org/10.3109/17482968.2011.623301
DOI	10.3109/17482968.2011.623301
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q58184265
is cites work of	Amyotrophic lateral sclerosis-like superoxide dismutase 1 proteinopathy is associated with neuronal loss in Parkinson's disease brain Large C9orf72 repeat expansions are not a common cause of Parkinson's disease No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden
is cites work of	wds:Q38773599-4A4D6977-651D-4A6D-B8BB-52963EF1637F wds:Q35984663-0B2DB6B7-74E5-4471-B287-8910C62AAD1F wds:Q44790863-5435D92F-A41D-43BF-84FD-1677F2D4E974

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