Leucine-rich repeat kinase 2 gene-associated disease: redefining genotype-phenotype correlation.
Identifieur interne : 001A23 ( Main/Exploration ); précédent : 001A22; suivant : 001A24Leucine-rich repeat kinase 2 gene-associated disease: redefining genotype-phenotype correlation.
Auteurs : Christian Wider [États-Unis] ; Dennis W. Dickson ; Zbigniew K. WszolekSource :
- Neuro-degenerative diseases [ 1660-2862 ] ; 2010.
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, DNA-Binding Proteins (metabolism), Family Health, Female, Genetic Predisposition to Disease, Genome-Wide Association Study (methods), Genotype, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Mutation (genetics), Parkinson Disease (genetics), Parkinson Disease (metabolism), Parkinson Disease (physiopathology), Phenotype, Protein-Serine-Threonine Kinases (genetics), Ubiquitin (metabolism), tau Proteins (metabolism).
- MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- chemical , metabolism : DNA-Binding Proteins, Ubiquitin, tau Proteins.
- genetics : Mutation, Parkinson Disease.
- metabolism : Parkinson Disease.
- methods : Genome-Wide Association Study.
- physiopathology : Parkinson Disease.
- Adult, Aged, Aged, 80 and over, Family Health, Female, Genetic Predisposition to Disease, Genotype, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Male, Middle Aged, Phenotype.
Abstract
Leucine-rich repeat kinase 2 (LRRK2) has emerged as the most prevalent genetic cause of Parkinson's disease (PD) among Caucasians. Patients carrying an LRRK2 mutation display significant variability of clinical and pathologic phenotypes across and within affected families.
DOI: 10.1159/000289232
PubMed: 20197701
Affiliations:
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Le document en format XML
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Dickson</name></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K" last="Wszolek">Zbigniew K. Wszolek</name></author></analytic><series><title level="j">Neuro-degenerative diseases</title><idno type="eISSN">1660-2862</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>DNA-Binding Proteins (metabolism)</term><term>Family Health</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genome-Wide Association Study (methods)</term><term>Genotype</term><term>Humans</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (metabolism)</term><term>Parkinson Disease (physiopathology)</term><term>Phenotype</term><term>Protein-Serine-Threonine Kinases (genetics)</term><term>Ubiquitin (metabolism)</term><term>tau Proteins (metabolism)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein-Serine-Threonine Kinases</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>DNA-Binding Proteins</term><term>Ubiquitin</term><term>tau Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genome-Wide Association Study</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Family Health</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Leucine-Rich Repeat Serine-Threonine Protein Kinase-2</term><term>Male</term><term>Middle Aged</term><term>Phenotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Leucine-rich repeat kinase 2 (LRRK2) has emerged as the most prevalent genetic cause of Parkinson's disease (PD) among Caucasians. Patients carrying an LRRK2 mutation display significant variability of clinical and pathologic phenotypes across and within affected families.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Floride</li></region></list><tree><noCountry><name sortKey="Dickson, Dennis W" sort="Dickson, Dennis W" uniqKey="Dickson D" first="Dennis W" last="Dickson">Dennis W. Dickson</name><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K" last="Wszolek">Zbigniew K. Wszolek</name></noCountry><country name="États-Unis"><region name="Floride"><name sortKey="Wider, Christian" sort="Wider, Christian" uniqKey="Wider C" first="Christian" last="Wider">Christian Wider</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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