Double homozygous mutations (R275W and M432V) in the ParkinGene associated with late-onset Parkinson's disease.
Identifieur interne : 000282 ( PubMed/Corpus ); précédent : 000281; suivant : 000283Double homozygous mutations (R275W and M432V) in the ParkinGene associated with late-onset Parkinson's disease.
Auteurs : Jonathan Carr ; Ilaria Guella ; Chelsea Szu-Tu ; Sihaam Boolay ; Brigitte Glanzmann ; Matthew J. Farrer ; Soraya BardienSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2016.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Ubiquitin-Protein Ligases.
- genetics : Late Onset Disorders, Mutation, Parkinson Disease.
- Aged, Female, Genetic Predisposition to Disease, Homozygote, Humans, Male, Middle Aged, Pedigree.
DOI: 10.1002/mds.26524
PubMed: 26860075
Links to Exploration step
pubmed:26860075Le document en format XML
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<author><name sortKey="Carr, Jonathan" sort="Carr, Jonathan" uniqKey="Carr J" first="Jonathan" last="Carr">Jonathan Carr</name>
<affiliation><nlm:affiliation>Division of Neurology, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.</nlm:affiliation>
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<author><name sortKey="Guella, Ilaria" sort="Guella, Ilaria" uniqKey="Guella I" first="Ilaria" last="Guella">Ilaria Guella</name>
<affiliation><nlm:affiliation>Centre for Applied Neurogenetics, Djavad Mowafhagian Centre for Brain Health, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:affiliation>
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<author><name sortKey="Szu Tu, Chelsea" sort="Szu Tu, Chelsea" uniqKey="Szu Tu C" first="Chelsea" last="Szu-Tu">Chelsea Szu-Tu</name>
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<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J" last="Farrer">Matthew J. Farrer</name>
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<term>Late Onset Disorders (genetics)</term>
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<term>Parkinson Disease (genetics)</term>
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<term>Genetic Predisposition to Disease</term>
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