DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease

Objective DNAJC6 mutations were recently described in two families with autosomal recessive juvenile parkinsonism (onset age

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Bibliographische Detailangaben
Veröffentlicht in:	Annals of neurology 2016-02, Vol.79 (2), p.244-256
Hauptverfasser:	Olgiati, Simone, Quadri, Marialuisa, Fang, Mingyan, Rood, Janneke P.M.A., Saute, Jonas A., Chien, Hsin Fen, Bouwkamp, Christian G., Graafland, Josja, Minneboo, Michelle, Breedveld, Guido J., Zhang, Jianguo, Verheijen, Frans W., Boon, Agnita J.W., Kievit, Anneke J.A., Jardim, Laura Bannach, Mandemakers, Wim, Barbosa, Egberto Reis, Rieder, Carlos R.M., Leenders, Klaus L., Wang, Jun, Bonifati, Vincenzo
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age Age of Onset Aged Aged, 80 and over Autosomal recessive inheritance Auxilins - metabolism Basal ganglia Central nervous system diseases Dopamine receptors Endocytosis Female Fibroblasts Fibroblasts - metabolism Heredity Homozygosity HSP40 Heat-Shock Proteins - genetics Humans Levodopa Linkage analysis Male Middle Aged Movement disorders Mutation Neurodegenerative diseases Parkinson's disease Parkinsonian Disorders - genetics Parkinsonian Disorders - metabolism Pathogenesis Patients Peptide mapping Phenotype Ribonucleic acid RNA Side effects Splicing Synaptic vesicles Wheelchairs Young Adult
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Beschreibung
Zusammenfassung:	Objective DNAJC6 mutations were recently described in two families with autosomal recessive juvenile parkinsonism (onset age
ISSN:	0364-5134 1531-8249
DOI:	10.1002/ana.24553