Associated Papers
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease study.
Westenberger A et al.
Brain : a Journal of Neurology, 2024
39087914 (PubMed )
Supplement: awae188_supplementary_data.zip › awae188_Supplementary_Table_6.f..xlsx › Sheet1
Genetic Variations and Neuropathologic Features of Patients with PRKN Mutations.
Seike N et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Characterization of Recessive Parkinson Disease in a Large Multicenter Study.
Lesage S et al.
Annals of Neurology, 2020
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray.
Bacchelli E et al.
Scientific Reports, 2020
PRKN, DJ-1, and PINK1 screening identifies novel splice site mutation in PRKN and two novel DJ-1 mutations.
Ghazavi F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2011
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.
Nuytemans K et al.
Human Mutation, 2010
20506312 (PubMed )
Supplement: humu0031-0763-SD1.pdf
Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles.
Hagenah JM et al.
Journal of Neurology, 2007
Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease.
Hertz JM et al.
European Journal of Neurology, 2006
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