Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow-up.
Identifieur interne : 003155 ( Ncbi/Checkpoint ); précédent : 003154; suivant : 003156Phenotype of the 202 adenine deletion in the parkin gene: 40 years of follow-up.
Auteurs : Sharon Hassin-Baer [Israël] ; Nobutaka Hattori ; Oren S. Cohen ; Magdalena Massarwa ; Simon D. Israeli-Korn ; Rivka InzelbergSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.
English descriptors
- KwdEn :
- Adenine, Adult, Age of Onset, Aged, Disability Evaluation, Disease Progression, Family Health, Female, Genotype, Humans, Longitudinal Studies, Male, Middle Aged, Parkinson Disease (genetics), Parkinson Disease (physiopathology), Phenotype, Sequence Deletion (genetics), Severity of Illness Index, Ubiquitin-Protein Ligases (genetics).
- MESH :
- chemical , genetics : Ubiquitin-Protein Ligases.
- chemical : Adenine.
- genetics : Parkinson Disease, Sequence Deletion.
- physiopathology : Parkinson Disease.
- Adult, Age of Onset, Aged, Disability Evaluation, Disease Progression, Family Health, Female, Genotype, Humans, Longitudinal Studies, Male, Middle Aged, Phenotype, Severity of Illness Index.
Abstract
We describe the four decades follow-up of 14 parkin patients belonging to two large eight-generation-long in-bred Muslim-Arab kindreds.
DOI: 10.1002/mds.23456
PubMed: 21506149
Affiliations:
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pubmed:21506149Le document en format XML
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<author><name sortKey="Hassin Baer, Sharon" sort="Hassin Baer, Sharon" uniqKey="Hassin Baer S" first="Sharon" last="Hassin-Baer">Sharon Hassin-Baer</name>
<affiliation wicri:level="1"><nlm:affiliation>The Sagol Neuroscience Center, Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel.</nlm:affiliation>
<country xml:lang="fr">Israël</country>
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<wicri:noRegion>Tel Hashomer</wicri:noRegion>
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<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
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<author><name sortKey="Cohen, Oren S" sort="Cohen, Oren S" uniqKey="Cohen O" first="Oren S" last="Cohen">Oren S. Cohen</name>
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<author><name sortKey="Massarwa, Magdalena" sort="Massarwa, Magdalena" uniqKey="Massarwa M" first="Magdalena" last="Massarwa">Magdalena Massarwa</name>
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<author><name sortKey="Israeli Korn, Simon D" sort="Israeli Korn, Simon D" uniqKey="Israeli Korn S" first="Simon D" last="Israeli-Korn">Simon D. Israeli-Korn</name>
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<author><name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name>
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<author><name sortKey="Cohen, Oren S" sort="Cohen, Oren S" uniqKey="Cohen O" first="Oren S" last="Cohen">Oren S. Cohen</name>
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<author><name sortKey="Massarwa, Magdalena" sort="Massarwa, Magdalena" uniqKey="Massarwa M" first="Magdalena" last="Massarwa">Magdalena Massarwa</name>
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<author><name sortKey="Israeli Korn, Simon D" sort="Israeli Korn, Simon D" uniqKey="Israeli Korn S" first="Simon D" last="Israeli-Korn">Simon D. Israeli-Korn</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Disability Evaluation</term>
<term>Disease Progression</term>
<term>Family Health</term>
<term>Female</term>
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<term>Humans</term>
<term>Longitudinal Studies</term>
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<term>Middle Aged</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (physiopathology)</term>
<term>Phenotype</term>
<term>Sequence Deletion (genetics)</term>
<term>Severity of Illness Index</term>
<term>Ubiquitin-Protein Ligases (genetics)</term>
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<keywords scheme="MESH" type="chemical" xml:lang="en"><term>Adenine</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term>
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<term>Disease Progression</term>
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<term>Longitudinal Studies</term>
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<front><div type="abstract" xml:lang="en">We describe the four decades follow-up of 14 parkin patients belonging to two large eight-generation-long in-bred Muslim-Arab kindreds.</div>
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<name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
<name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name>
<name sortKey="Israeli Korn, Simon D" sort="Israeli Korn, Simon D" uniqKey="Israeli Korn S" first="Simon D" last="Israeli-Korn">Simon D. Israeli-Korn</name>
<name sortKey="Massarwa, Magdalena" sort="Massarwa, Magdalena" uniqKey="Massarwa M" first="Magdalena" last="Massarwa">Magdalena Massarwa</name>
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<country name="Israël"><noRegion><name sortKey="Hassin Baer, Sharon" sort="Hassin Baer, Sharon" uniqKey="Hassin Baer S" first="Sharon" last="Hassin-Baer">Sharon Hassin-Baer</name>
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