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DNAJC6 Mutations Associated with Early-Onset Parkinson's Disease
Simone Olgiati
, Marialuisa Quadri
, Mingyan Fang
, Janneke P.M.A. Rood
, Jonas A. Saute
, Hsin Fen Chien
, Christian G. Bouwkamp
, Josja Graafland
, Michelle Minneboo
, Guido J. Breedveld
, Jianguo Zhang
, Frans W. Verheijen
, Agnita J.W. Boon
, Anneke J.A. Kievit
, Laura Bannach Jardim
, Wim Mandemakers
, Egberto Reis Barbosa
, Carlos R.M. Rieder
, Klaus L. Leenders
, Jun Wang
Vincenzo Bonifati
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Ordina per
Peso
Alfabetico
Biochemistry, Genetics and Molecular Biology
Autosomal Recessive Inheritance
100%
Gene Linkage
100%
Exome Sequencing
100%
Open Reading Frame
50%
Steady State
50%
Endocytosis
50%
Dopaminergic
50%
Linkage Analysis
50%
Homozygosity
50%
RNA Splicing
50%
Runs Of Homozygosity
50%
Auxilin
50%
Fibroblast
50%
Keyphrases
Early Parkinson's Disease
100%
DNAJC6
100%
Parkinson's Disease
25%
Idiopathic Parkinson's Disease
25%
Upstream Open Reading Frame (uORF)
12%
Disease Progression
12%
Fibroblasts
12%
Steady State
12%
Autosomal Recessive
12%
Early Onset
12%
Age of Onset
12%
Clinical Diagnosis
12%
Sporadic Patient
12%
Linkage Analysis
12%
Non-coding
12%
Symptom Onset
12%
Pathogenic Variants
12%
Rapid Progression
12%
Whole Exome Sequencing
12%
Disease Pathogenesis
12%
Autosomal Recessive Inheritance
12%
Monogenic
12%
Levodopa
12%
RNA Splicing
12%
Exome Sequencing
12%
Dopaminergic Therapy
12%
Novel Form
12%
Co-segregation
12%
Sequencing Studies
12%
Protein Studies
12%
Juvenile Parkinsonism
12%
Synaptic Vesicle Exocytosis
12%
Homozygosity Mapping
12%
Neuropsychiatric Adverse Events
12%
Auxilin
12%
Runs of Homozygosity
12%
Synaptic Vesicle Trafficking
12%
Linkage Region
12%
Wheelchair
12%