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Translation initiator EIF4G1 mutations in familial Parkinson disease.
Genome-wide analysis of a multi-incident family with autosomal-dominant parkinsonism has implicated a locus on chromosomal region 3q26-q28. Linkage and disease segregation is explained by a missenseExpand
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Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease.
OBJECTIVE Recently, genomic multiplications of alpha-synuclein gene (SNCA) have been reported to cause hereditary early-onset parkinsonism. The objective of this study was to assess the frequency ofExpand
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Expanding the clinical phenotype of SNCA duplication carriers
SNCA duplication is a recognized cause of familial Parkinson's disease (PD). We aimed to explore the genetic and clinical variability in the disease manifestation. Molecular characterization wasExpand
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LRRK2 knockout mice have an intact dopaminergic system but display alterations in exploratory and motor co-ordination behaviors
Mutations in the LRRK2 gene are the most common cause of genetic Parkinson’s disease. Although the mechanisms behind the pathogenic effects of LRRK2 mutations are still not clear, data emerging fromExpand
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Prognosis of Parkinson's disease: Time to stage III, IV, V, and to motor fluctuations
We report a long‐term outcome on a large cohort of Japanese patients with Parkinson's disease (PD). A total of 1,768 (793 men, 975 women) consecutive patients visited our clinic from 1 January 1989Expand
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Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease
Recently, genomic multiplications of α‐synuclein gene (SNCA) have been reported to cause hereditary early‐onset parkinsonism. The objective of this study was to assess the frequency of SNCAExpand
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Genomic investigation of α‐synuclein multiplication and parkinsonism
Copy number variation is a common polymorphic phenomenon within the human genome. Although the majority of these events are non‐deleterious they can also be highly pathogenic. Herein we characterizeExpand
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A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease
Genetic classification of Parkinson's disease (PD) subtypes may become the preferred diagnostic tool for neurologists. Herein we compare clinical features from a large cohort of patients withExpand
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An Epidemiologic Internet Survey of Fibromyalgia and Chronic Pain in Japan
To determine the epidemiologic features and symptom characteristics of fibromyalgia (FM) in Japan, and compare them with those for other chronic pain (CP) diagnoses.
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Association of alpha-, beta-, and gamma-Synuclein with diffuse lewy body disease.
OBJECTIVE To determine the association of the genes that encode alpha-, beta-, and gamma-synuclein (SNCA, SNCB, and SNCG, respectively) with diffuse Lewy body disease (DLBD). DESIGN Case-controlExpand
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