「Mutation spectrum and health status in skeletal muscle channelopathies 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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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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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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A clinical and genetic study of SPG31 in Japan
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Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification
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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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UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes
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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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Myelodysplastic syndrome with trisomy 8 presenting periodic fever and multiple MEFV gene variants outside exon 10: a case report
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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
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Wilson’s disease model establishment from human induced pluripotent stem cells
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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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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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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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Clinical and genetic features of cystic fibrosis in Japan
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Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
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Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly
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Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants
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Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes
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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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Myh9 R702C is associated with erythroid abnormality with splenomegaly in mice
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Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
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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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Reverse Genetic Studies on Mitochondrial tRNA-related Disorders
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A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism
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SAK3 Administration Improves Spine Abnormalities and Cognitive Deficits in AppNL-G-F/NL-G-F Knock-in Mice by Increasing Proteasome Activity through CaMKII/Rpt6 Signaling
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Two sporadic cases of childhood-onset Hailey-Hailey disease with superimposed mosaicism
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Novel SLC30A2 mutations in the pathogenesis of transient neonatal zinc deficiency
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Involvement of brain structures in childhood epilepsy with centrotemporal spikes
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Serum neurofilament light chain in chronic inflammatory demyelinating polyneuropathy
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All reported non-canonical splice site variants in GLA cause aberrant splicing
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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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Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing
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Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia
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Congenital Dysfibrinogenemia Presented with Massive Hematomas Formed after Hysterectomy
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Analyses of genetic and retinal lesions in Ccdc85c knockout rats: a rat model of genetic hydrocephalus
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Automated screening procedure for the phenotypes of congenital fibrinogen disorders using novel parameters, |min1|c and Ac/|min1|c, obtained from clot waveform analysis using the Clauss method
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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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Elderly patient with 5q spinal muscular atrophy type 4 markedly improved by Nusinersen
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The landscape of genetic aberrations in myxofibrosarcoma
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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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Lack of association between seropositivity of vasculopathy-related viruses and moyamoya disease
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Genetic and Epigenetic Pathogenesis of Acromegaly
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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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Pathological gait in Rett syndrome: Quantitative evaluation using three-dimensional gait analysis
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Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19
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Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers