「A clinical and genetic study of SPG31 in Japan」の関連論文
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FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients
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UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes
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Case report: Late middle-aged features of FAM111A variant, Kenny–Caffey syndrome type 2-suggestive symptoms during a long follow-up
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Myelodysplastic syndrome with trisomy 8 presenting periodic fever and multiple MEFV gene variants outside exon 10: a case report
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Lack of association between seropositivity of vasculopathy-related viruses and moyamoya disease
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Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
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4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
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A cerebrospinal fluid microRNA analysis: Progressive supranuclear palsy
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Clinical and genetic features of cystic fibrosis in Japan
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Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification
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Molecular genetic study of the FMR1 CGG repeat configurations in the Japanese population and patients with Fragile X-Associated Tremor/Ataxia Syndrome
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Prenatal diagnosis of severe mitochondrial disease caused by nuclear gene defects: a study in Japan
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Differentiation of Hypertrophic Chondrocytes from Human iPSCs for the In Vitro Modeling of Chondrodysplasias
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Characteristics of cortical spreading depression and c-Fos expression in transgenic mice having a mutation associated with familial hemiplegic migraine 2 (本文)
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Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
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The ocular involvement did not accompany with the genital ulcer or the gastrointestinal symptoms at the early stage Behcet’s disease
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Genomic analysis for the prediction of prognosis in small-bowel cancer
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Genomic analysis for the prediction of prognosis in small-bowel cancer
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Generalized Pustular Psoriasis: Clinical Management and Update on Autoinflammatory Aspects
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Pathological gait in Rett syndrome: Quantitative evaluation using three-dimensional gait analysis
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Interactions of amyloid coaggregates with biomolecules and its relevance to neurodegeneration
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Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
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Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
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Dilated cardiomyopathy-linked heat shock protein family D member 1 mutations cause up-regulation of reactive oxygen species and autophagy through mitochondrial dysfunction (本文)
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Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
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Temporal arteritis with focal pachymeningitis: a deceptive association
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Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor
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Constitutive activation of mTORC1 signaling induced by biallelic loss-of-function mutations in SZT2 underlies a discernible neurodevelopmental disease
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Development of Remote Inflammation through Interneuron Network in the Spinal Cord
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Failure of internal fixation for ankle joint Charcot neuroarthropathy with beta(2)-microglobulin amyloidosis: a case report
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Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease
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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
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Combined Hypophysitis and Type 1 Diabetes Mellitus Related to Immune Checkpoint Inhibitors
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Genome-wide association study of IgA nephropathy using 23 465 microsatellite markers in a Japanese population
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Genomic analysis of multiple myeloma using targeted capture sequencing in the Japanese cohort
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Hereditary Congenital Methemoglobinemia Diagnosed at the Age of 79 Years: A Case Report
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Paraproteinemia and neuropathy
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The association of thyroglobulin single nucleotide polymorphism with miniature dachshunds-specific inflammatory colorectal polyps and its involvement in interleukin-6 amplifier induced chronic inflammation
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MicroRNA profiling in adults with high-functioning autism spectrum disorder
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Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing
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Identification of a novel causative mutation in KRT1 in diffuse palmoplantar keratoderma, facilitated by whole-exome sequencing
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Usefulness of interleukin-18 as a diagnostic biomarker to differentiate adult-onset Still’s disease with/without macrophage activation syndrome from other secondary hemophagocytic lymphohistiocytosis in adults
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Development of highly efficient methods for comprehensive pathogen detection using next generation sequencing
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TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum
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Acute bilateral hypotropia and esotropia complex as first manifestation of multiple sclerosis: a case report
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Beneficial screening of Fabry disease in patients with hypohidrosis
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Serum neurofilament light chain in chronic inflammatory demyelinating polyneuropathy
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An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome
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Examination of the body composition of patients with Werner syndrome using bioelectrical impedance analysis