「SMN promotes mitochondrial metabolic maturation during myogenesis by regulating the MYOD-miRNA axis」の関連論文
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SMN promotes mitochondrial metabolic maturation during myogenesis by regulating the MYOD-miRNA axis
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Elderly patient with 5q spinal muscular atrophy type 4 markedly improved by Nusinersen
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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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Optimal conditions for graft survival and reinnervation of denervated muscles after embryonic motoneuron transplantation into peripheral nerves undergoing Wallerian degeneration
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Human recombinant erythropoietin improves motor function in rats with spinal cord compression-induced cervical myelopathy
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Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy
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Human induced pluripotent stem cells generated from a patient with idiopathic basal ganglia calcification
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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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Elucidation of Mechanisms Underlying the Preventive Effects of Olive Fruit-Derived Maslinic Acid on Muscle Atrophy
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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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The ACTN3 577XX Null Genotype Is Associated with Low Left Ventricular Dilation-Free Survival Rate in Patients with Duchenne Muscular Dystrophy
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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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FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients
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Spinal Muscular Atrophy Type 3 Showing a Specific Pattern of Selective Vulnerability on Muscle Ultrasound.
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PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan
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A clinical and genetic study of SPG31 in Japan
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Mutation spectrum and health status in skeletal muscle channelopathies in Japan
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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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The stimulator of interferon genes (STING) pathway is upregulated in striatal astrocytes of patients with multiple system atrophy
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Studies on Effects of the Selective Androgen Receptor Modulator on Androgen-Depleted Sarcopenia and Cachexia Models
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Cell migration is impaired in XPA-deficient cells
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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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A case of Cockayne syndrome with unusually mild clinical manifestations
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4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay
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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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Study of Mitochonic Acid 5 to improve neuromuscular dysfunction associated with aging and diseases using C. elegans
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Early mobilization in spinal cord injury promotes changes in microglial dynamics and recovery of motor function
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Cryptotanshinone is a candidate therapeutic agent for interstitial lung disease associated with a BRICHOS-domain mutation of SFTPC
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Pathological gait in Rett syndrome: Quantitative evaluation using three-dimensional gait analysis
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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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UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes
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Ablation of interleukin-19 improves motor function in a mouse model of amyotrophic lateral sclerosis
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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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Biclonal Gammopathy as a Misleading Indicator to Diagnose POEMS Syndrome: An Autopsy Case Report and a Review of the Literature
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Beneficial screening of Fabry disease in patients with hypohidrosis
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C188-9, a specific inhibitor of STAT3 signaling, prevents thermal burn-induced skeletal muscle wasting in mice
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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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Serum neurofilament light chain in chronic inflammatory demyelinating polyneuropathy
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Systematic Review of Clinical Characteristics and Genotype-Phenotype Correlation in LAMB2-Associated Disease
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Cardiac Conduction Disorders as Markers of Cardiac Events in Myotonic Dystrophy Type 1.
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Myh9 R702C is associated with erythroid abnormality with splenomegaly in mice
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Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant
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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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A case of paroxysmal kinesigenic dyskinesia suspected to be reflex epilepsy
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Circulatory C-type natriuretic peptide reduces mucopolysaccharidosis-associated craniofacial hypoplasia in vivo
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Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers
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Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes
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Active role of the central amygdala in widespread mechanical sensitization in rats with facial inflammatory pain
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Case of osteopetrosis with multiple impacted primary and permanent teeth diagnosed at eight years old
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