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Titel:

Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.

Dokumenttyp:
Article; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Vollstedt, Eva-Juliane; Schaake, Susen; Lohmann, Katja; Padmanabhan, Shalini; Brice, Alexis; Lesage, Suzanne; Tesson, Christelle; Vidailhet, Marie; Wurster, Isabel; Hentati, Faycel; Mirelman, Anat; Giladi, Nir; Marder, Karen; Waters, Cheryl; Fahn, Stanley; Kasten, Meike; Brüggemann, Norbert; Borsche, Max; Foroud, Tatiana; Tolosa, Eduardo; Garrido, Alicia; Annesi, Grazia; Gagliardi, Monica; Bozi, Maria; Stefanis, Leonidas; Ferreira, Joaquim J; Correia Guedes, Leonor; Avenali, Micol; Petrucci, Sim...     »
Abstract:
BACKGROUND: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is limited. OBJECTIVE: The objectives are to (1) establish an international cohort of affected and unaffec...     »
Zeitschriftentitel:
Mov Disord
Jahr:
2023
Band / Volume:
38
Heft / Issue:
2
Seitenangaben Beitrag:
286-303
Volltext / DOI:
doi:10.1002/mds.29288
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/36692014
Print-ISSN:
0885-3185
TUM Einrichtung:
183; Institut für Humangenetik (Prof. Winkelmann)
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