Tatsushi Toda

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Publications in SciGraph latest 50 shown

  • 2018-12 Cell surface flip-flop of phosphatidylserine is critical for PIEZO1-mediated myotube formation in NATURE COMMUNICATIONS
  • 2018-03 Low signal intensity in motor cortex on susceptibility-weighted MR imaging is correlated with clinical signs of amyotrophic lateral sclerosis: a pilot study in JOURNAL OF NEUROLOGY
  • 2017-11 Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan in JOURNAL OF HUMAN GENETICS
  • 2017-09 Novel missense mutation in DLL4 in a Japanese sporadic case of Adams–Oliver syndrome in JOURNAL OF HUMAN GENETICS
  • 2017-09 Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams–Oliver syndrome in JOURNAL OF HUMAN GENETICS
  • 2017-02 Ichiro Kanazawa, MD, PhD, 1941–2016 in JOURNAL OF HUMAN GENETICS
  • 2016-08 Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation in JOURNAL OF HUMAN GENETICS
  • 2016-04 Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother in JOURNAL OF HUMAN GENETICS
  • 2015-12 Prenatal genetic testing for familial severe congenital protein C deficiency in HUMAN GENOME VARIATION
  • 2015-12 A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy in HUMAN GENOME VARIATION
  • 2015-07 Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression in SCIENTIFIC REPORTS
  • 2014-12 TRPV2 is critical for the maintenance of cardiac structure and function in mice in NATURE COMMUNICATIONS
  • 2014-12 Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex in ORPHANET JOURNAL OF RARE DISEASES
  • 2013-12 AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycan in SCIENTIFIC REPORTS
  • 2013-11 YY1 binds to α-synuclein 3′-flanking region SNP and stimulates antisense noncoding RNA expression in JOURNAL OF HUMAN GENETICS
  • 2013-09 Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis in JOURNAL OF HUMAN GENETICS
  • 2013-08 Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients in MOLECULAR GENETICS AND GENOMICS
  • 2013-07 Inhibition of Protein Misfolding/Aggregation Using Polyglutamine Binding Peptide QBP1 as a Therapy for the Polyglutamine Diseases in NEUROTHERAPEUTICS
  • 2013-06 A novel mutation in the C2 domain of protein kinase C gamma associated with spinocerebellar ataxia type 14 in JOURNAL OF NEUROLOGY
  • 2012-08 Screening of genes involved in chromosome segregation during meiosis I: in vitro gene transfer to mouse fetal oocytes in JOURNAL OF HUMAN GENETICS
  • 2011-10 Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy in NATURE
  • 2011-04 Genetic and clinical analysis in a Chinese parkinsonism-predominant spinocerebellar ataxia type 2 family in JOURNAL OF HUMAN GENETICS
  • 2011-02 Defective glycosylation of α-dystroglycan contributes to podocyte flattening in KIDNEY INTERNATIONAL
  • 2010-05 Screening of genes involved in chromosome segregation during meiosis I: toward the identification of genes responsible for infertility in humans in JOURNAL OF HUMAN GENETICS
  • 2009-12 Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease in NATURE GENETICS
  • 2008-12 LRRK2 P755L variant in sporadic Parkinson’s disease in JOURNAL OF HUMAN GENETICS
  • 2008-08 Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation in NATURE NEUROSCIENCE
  • 2008-08 Calbindin 1, fibroblast growth factor 20, and α-synuclein in sporadic Parkinson’s disease in HUMAN GENETICS
  • 2008 Fukutin and Fukuyama Congenital Muscular Dystrophy in EXPERIMENTAL GLYCOSCIENCE
  • 2007-07-23 Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia in JOURNAL OF HUMAN GENETICS
  • 2007-04 A toxic monomeric conformer of the polyglutamine protein in NATURE STRUCTURAL & MOLECULAR BIOLOGY
  • 2006-10-31 The genetic and molecular basis of muscular dystrophy: roles of cell–matrix linkage in the pathogenesis in JOURNAL OF HUMAN GENETICS
  • 2005-12 Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation in HUMAN GENETICS
  • 2005-02 Humanin attenuates apoptosis induced by DRPLA proteins with expanded polyglutamine stretches in JOURNAL OF MOLECULAR NEUROSCIENCE
  • 2003-10 Toward identification of susceptibility genes for sporadic Parkinson’s disease in JOURNAL OF NEUROLOGY
  • 2003 Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan in JOURNAL OF HUMAN GENETICS
  • 2002-06-01 Identification of CAG repeat-containing genes expressed in human brain as candidate genes for autosomal dominant spinocerebellar ataxias and other neurodegenerative diseases in JOURNAL OF HUMAN GENETICS
  • 2000-12 Age and origin of the FCMD 3′-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population in HUMAN GENETICS
  • 1999-12 Fukuyama-type congenital muscular dystrophy: the first human disease to be caused by an ancient retrotransposal integration in JOURNAL OF MOLECULAR MEDICINE
  • 1999-08-23 Spermatogenic ability is different among males in different Y chromosome lineage in JOURNAL OF HUMAN GENETICS
  • 1999-07-01 Genetic variations on the Y chromosome in the Japanese population and implications for modern human Y chromosome lineage in JOURNAL OF HUMAN GENETICS
  • 1998-09 Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD) in HUMAN GENETICS
  • 1998-07 An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy in NATURE
  • 1997-03 Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy in HUMAN GENETICS
  • 1996-12 A novel (CA)n polymorphism on 6p21.1-21.2 in JOURNAL OF HUMAN GENETICS
  • 1996-01 Are breaches in the glia limitans the primary cause of the micropolygyria in Fukuyama-type congenital muscular dystrophy (FCMD)? – Pathological study of the cerebral cortex of an FCDM fetus in ACTA NEUROPATHOLOGICA
  • 1995-12 Dinucleotide repeat polymorphism on chromosome 9q32 in JOURNAL OF HUMAN GENETICS
  • 1994-05 Corrigendum: Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31–33 in NATURE GENETICS
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