UNIVERSI
TÄ
TS-
BIBLIOTHEK
P
ADERBORN
Anmelden
Menü
Menü
Start
Hilfe
Blog
Weitere Dienste
Neuerwerbungslisten
Fachsystematik Bücher
Erwerbungsvorschlag
Bestellung aus dem Magazin
Fernleihe
Einstellungen
Sprache
Deutsch
Deutsch
Englisch
Farbschema
Hell
Dunkel
Automatisch
Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist
gegebenenfalls
nur via VPN oder Shibboleth (DFN-AAI) möglich.
mehr Informationen...
Universitätsbibliothek
Katalog
Suche
Details
Zur Ergebnisliste
Ergebnis 8 von 405
Datensatz exportieren als...
BibTeX
Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force
Movement disorders, 2016-04, Vol.31 (4), p.436-457
Marras, Connie
Lang, Anthony
van de Warrenburg, Bart P.
Sue, Carolyn M.
Tabrizi, Sarah J.
Bertram, Lars
Mercimek-Mahmutoglu, Saadet
Ebrahimi-Fakhari, Darius
Warner, Thomas T.
Durr, Alexandra
Assmann, Birgit
Lohmann, Katja
Kostic, Vladimir
Klein, Christine
2016
Details
Autor(en) / Beteiligte
Marras, Connie
Lang, Anthony
van de Warrenburg, Bart P.
Sue, Carolyn M.
Tabrizi, Sarah J.
Bertram, Lars
Mercimek-Mahmutoglu, Saadet
Ebrahimi-Fakhari, Darius
Warner, Thomas T.
Durr, Alexandra
Assmann, Birgit
Lohmann, Katja
Kostic, Vladimir
Klein, Christine
Titel
Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force
Ist Teil von
Movement disorders, 2016-04, Vol.31 (4), p.436-457
Ort / Verlag
United States: Blackwell Publishing Ltd
Erscheinungsjahr
2016
Link zum Volltext
Quelle
Wiley Online Library Journals Frontfile Complete
Beschreibungen/Notizen
ABSTRACT The system of assigning locus symbols to specify chromosomal regions that are associated with a familial disorder has a number of problems when used as a reference list of genetically determined disorders,including (I) erroneously assigned loci, (II) duplicated loci, (III) missing symbols or loci, (IV) unconfirmed loci and genes, (V) a combination of causative genes and risk factor genes in the same list, and (VI) discordance between phenotype and list assignment. In this article, we report on the recommendations of the International Parkinson and Movement Disorder Society Task Force for Nomenclature of Genetic Movement Disorders and present a system for naming genetically determined movement disorders that addresses these problems. We demonstrate how the system would be applied to currently known genetically determined parkinsonism, dystonia, dominantly inherited ataxia, spastic paraparesis, chorea, paroxysmal movement disorders, neurodegeneration with brain iron accumulation, and primary familial brain calcifications. This system provides a resource for clinicians and researchers that, unlike the previous system, can be considered an accurate and criterion‐based list of confirmed genetically determined movement disorders at the time it was last updated. © 2016 International Parkinson and Movement Disorder Society
Sprache
Englisch
Identifikatoren
ISSN: 0885-3185
eISSN: 1531-8257
DOI: 10.1002/mds.26527
Titel-ID: cdi_proquest_miscellaneous_1787968547
Format
–
Schlagworte
genetics
,
Humans
,
Movement disorders
,
Movement Disorders - classification
,
Movement Disorders - genetics
,
nomenclature
,
Societies, Medical - standards
Weiterführende Literatur
Empfehlungen zum selben Thema automatisch vorgeschlagen von
bX