Search Results - "Satake, Wataru"
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CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study
Published in Lancet neurology (01-03-2015)“…Summary Background Identification of causative genes in mendelian forms of Parkinson's disease is valuable for understanding the cause of the disease. We did…”
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Genome-wide association study identifies zonisamide responsive gene in Parkinson's disease patients
Published in Journal of human genetics (01-08-2020)“…Long-term treatment of Parkinson's disease (PD) by levodopa leads to motor complication "wearing-off". Zonisamide is a nondopaminergic antiparkinsonian drug…”
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Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease
Published in Nature genetics (01-12-2009)“…To identify susceptibility variants for Parkinson's disease (PD), we performed a genome-wide association study (GWAS) and two replication studies in a total of…”
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Variants in saposin D domain of prosaposin gene linked to Parkinson's disease
Published in Brain (London, England : 1878) (01-04-2020)“…Recently, the genetic variability in lysosomal storage disorders has been implicated in the pathogenesis of Parkinson's disease. Here, we found that variants…”
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Comparative whole transcriptome analysis of Parkinson’s disease focusing on the efficacy of zonisamide
Published in Journal of neurology, neurosurgery and psychiatry (01-05-2022)“…ObjectiveInterindividual variations in responsiveness to zonisamide in patients with Parkinson’s disease (PD) have been observed in clinical settings. To…”
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Successful electroconvulsive therapy for 22q11.2 deletion syndrome with Schizophrenia and Parkinson's disease
Published in Psychiatry and clinical neurosciences (01-11-2022)Get full text
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Trans‐Ethnic Fine‐Mapping of the Major Histocompatibility Complex Region Linked to Parkinson's Disease
Published in Movement disorders (01-08-2021)“…ABSTRACT Background Despite evidence for the role of human leukocyte antigen (HLA) in the genetic predisposition to Parkinson's disease (PD), the complex…”
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Experimentally Shock‐Induced Melt Veins in Basalt: Improving the Shock Classification of Eucrites
Published in Geophysical research letters (16-01-2023)“…Basaltic rocks occur widely on the terrestrial planets and differentiated asteroids, including the asteroid 4 Vesta. We conducted a shock recovery experiment…”
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Bardet-Biedl syndrome and related disorders in Japan
Published in Journal of human genetics (01-10-2020)“…Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by obesity, mental impairment, rod-cone dystrophy, polydactyly, male…”
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Anti-neurofascin 155 Antibody-positive Neuropathy in a Human Immunodeficiency Virus-infected Patient
Published in Internal Medicine (15-02-2024)“…Human immunodeficiency virus (HIV)-associated neuropathy is a common complication of HIV infection and has several clinical subtypes. HIV-associated chronic…”
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Extremely Longitudinally Extensive Transverse Myelitis in a Patient With Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease
Published in Curēus (Palo Alto, CA) (08-05-2024)“…Longitudinally extensive myelitis with 15 or more vertebrae in length is extremely rare, with limited evidence regarding clinical features and therapeutic…”
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Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes
Published in PloS one (01-07-2015)“…Long QT syndrome (LQTS) is an arrhythmogenic disorder that can lead to sudden death. To date, mutations in 15 LQTS-susceptibility genes have been implicated…”
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The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan
Published in PloS one (01-09-2015)“…Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by central obesity, mental impairment, rod-cone dystrophy, polydactyly,…”
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YY1 binds to α-synuclein 3'-flanking region SNP and stimulates antisense noncoding RNA expression
Published in Journal of human genetics (01-11-2013)“…α-synuclein (SNCA) is an established susceptibility gene for Parkinson's disease (PD), one of the most common human neurodegenerative disorders. Increased SNCA…”
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SPTLC2 variants are associated with early‐onset ALS and FTD due to aberrant sphingolipid synthesis
Published in Annals of clinical and translational neurology (01-04-2024)“…Objective Amyotrophic lateral sclerosis (ALS) is a devastating, incurable neurodegenerative disease. A subset of ALS patients manifests with early‐onset and…”
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Redox states of thirteen shergottites as inferred from iron micro X-ray absorption near edge structure of maskelynite
Published in GEOCHEMICAL JOURNAL (01-01-2014)“…We used synchrotron radiation Fe micro-XANES (X-ray Absorption Near Edge Structure) analysis to determine the iron valence of maskelynite (shocked-plagioclase…”
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A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency
Published in American journal of medical genetics. Part A (01-01-2016)“…Glycosylphosphatidylinositol (GPI) anchors tether proteins to the extracellular face of eukaryotic plasma membranes. Defects in the human GPI anchor…”
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Treatment of a case of severe insulin resistance as a result of a PIK3R1 mutation with a sodium–glucose cotransporter 2 inhibitor
Published in Journal of diabetes investigation (01-09-2018)“…A Japanese woman aged in her late 30s with severe insulin resistance and bodily features including a triangular face, prominent forehead, small chin, large and…”
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Mineralogy and petrography of the Almahata Sitta ureilite
Published in Meteoritics & planetary science (01-10-2010)“…– We performed a battery of analyses on 17 samples of the Almahata Sitta meteorite, identifying three main lithologies and several minor ones present as…”
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Bardet–Biedl syndrome and related disorders in Japan
Published in Journal of human genetics (01-10-2020)Get full text
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