「A clinical and genetic study of SPG31 in Japan」の関連論文
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Latest classification of ependymoma in the molecular era and advances in its treatment: a review
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Iinfluence of plasma cytokine levels on the conversion risk from MCI to dementia in the Alzheimer's disease neuroimaging initiative database
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Wilson’s disease model establishment from human induced pluripotent stem cells
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Safety comparisons among monoamine oxidase inhibitors against Parkinson’s disease using FDA adverse event reporting system
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Alterations in DNA methylation rates of brain-derived neurotrophic factor in patients with schizophrenia.
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Alterations in DNA methylation rates of brain-derived neurotrophic factor in patients with schizophrenia.
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Lack of impact of the ALDH2 rs671 variant on breast cancer development in Japanese BRCA1/2‐mutation carriers
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HLA-B*51:01 and CYP2C9*3 are risk factors for phenytoin-induced eruption in the Japanese population: analysis of data from the Biobank Japan Project
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The prevalence and characteristics of hypouricemia: a descriptive study of medical check-up and administrative claims data
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Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation
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Congenital Dysfibrinogenemia Presented with Massive Hematomas Formed after Hysterectomy
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Associations between parental bonding during childhood and functional recovery in patients with schizophrenia
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Analysis of immunologic comorbidities in ulcerative colitis patients: a tool to prevent exacerbations in ulcerative colitis cases
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Visualizing prolonged hyperperfusion in post-stroke epilepsy using postictal subtraction SPECT
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Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis
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Involvement of brain structures in childhood epilepsy with centrotemporal spikes
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Investigation of the current situation regarding diagnosis and treatment of Alport syndrome in Asian countries: results of survey of the Asian Paediatric Nephrology association (AsPNA) tubular and inherited working group
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Optimized sonoreactor for accelerative amyloid-fibril assays through enhancement of primary nucleation and fragmentation
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GOS2 regulates innate immunity of Kawasaki disease via IncRNA RP1-280 10.1
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Cholinergic Urticaria: Subtype Classification and Clinical Approach
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Genome-wide association study of serum prostate-specific antigen levels based on 1000 Genomes imputed data in Japanese : the Japan Multi-Institutional Collaborative Cohort Study
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A case of Cockayne syndrome with unusually mild clinical manifestations
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Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo
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A study of pathophysiological roles of immune system-related receptors that regulate intestinal mucosal barrier function in inflammatory bowel disease model
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A case of eosinophilic polyangiitis with granulomatosis that evolved to cardiac arrest due to advanced atrioventricular block
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Elderly patient with 5q spinal muscular atrophy type 4 markedly improved by Nusinersen
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Study profile of The Tohoku Medical Megabank Community-Based Cohort Study.
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Comprehensive analysis of full-length transcripts reveals novel splicing abnormalities and oncogenic transcripts in liver cancer
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Studies on the pathological mechanism of alopecia areata in C3H/HeJ mouse model
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Primary functional brain connections associated with melancholic major depressive disorder and modulation by antidepressants
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Primary functional brain connections associated with melancholic major depressive disorder and modulation by antidepressants
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The Immunology of Takotsubo Syndrome
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Unique reticular hyperkeratotic eruptions seen in a patient with Darier's disease and attention deficit hyperactivity disorder
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Complete resection and untethering of the cervical and thoracic spinal dermal sinus tracts in adult patients
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思春期早発症の9歳女児に急性発症した上腸間膜動脈症候群の1例
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EYS is a major gene involved in retinitis pigmentosa in Japan: Genetic landscapes revealed by stepwise genetic screening.
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Systemic Supplementation of Collagen VI by Neonatal Transplantation of iPSC-Derived MSCs Improves Histological Phenotype and Function of Col6-Deficient Model Mice
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Immunohistochemical assessment of sex-determining region Y (SRY)-related high mobility group (HMG)-box 2 (Sox2) and Krüppel-like factor 4 (Klf4) in ameloblastomas
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Diagnosis and Characterization of Endoscopic Findings in XIAP Deficiency
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Interventions to improve locomotive syndrome: a systematic review and meta-analysis of randomized controlled trials
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α-Synuclein BAC transgenic mice exhibit RBD-like behaviour and hyposmia: a prodromal Parkinson’s disease model
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Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants
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Active role of the central amygdala in widespread mechanical sensitization in rats with facial inflammatory pain
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An autopsy case of primary gliosarcoma with multiple extracranial metastases: pathology after administration of bevacizumab and genetic profile
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Long-term Effect of Regular Physical Activity and Exercise Habits in Patients With Early Parkinson Disease
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Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency
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The Natural History of Spontaneously Occurred Endometriosis in Cynomolgus Monkeys by Monthly Follow-Up Laparoscopy for Two Years.
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A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease
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Pathogenic mutation of TDP-43 impairs RNA processing in a cell type-specific manner : implications for the pathogenesis of ALS/FTLD (本文)
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Severe neurodevelopmental disorder caused by an MEF2C nonsense mutation