ガングリオシド蓄積症とシグナル伝達 (特集脳と糖脂質)

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GM1-ガングリオシドーシスに対するケミカルシャペロン療法のマウスモデル細胞を用いた解析
ガングリオシド蓄積症とシグナル伝達 (特集脳と糖脂質)
アストロサイトのオートファジーとmTOR (特集 mTORをめぐるシグナルタンパク)
細胞移植によるライソゾーム病脳病変の長期治療の可能性についての検討
遺伝子診断の実際 (特大号/先天代謝異常症--日常診療で必須の知識) -- (診断の進歩)
G_ガングリオシドーシス神経変性分子メカニズムの解明とケミカルシャペロン法の研究
ヒトG_ガングリオシドーシス変異とケミカルシャペロン法の検討
中年で発症したシアリドーシスI型の1例
末梢血泡沫細胞と頭部MRIでの髄鞘化遅延を認めたGM1ガングリオシドーシスの1例
Developmental Changes of Ni^ Sensitivity and Automaticity in Nkx2.5-Positive Cardiac Precursor Cells From Murine Embryonic Stem Cell
State-Dependent Blocking Actions of Azimilide Dihydrochloride (NE-10064) on Human Cardiac Na^+ Channels
FRS-091 Impairment of Ubiquitin-Proteasome System Caused by a Missense MYBPC3 Mutation and Associated with Cardiac Dysfunction in Hypertrophic Cardiomyopathy(FRS19,Genetic Abnormalities in Cardiac Hypertrophy and Cardiomyopathy (M),Featured Research Sessi
1 Role of the Ubiquitin Proteasome System in the Development of Heart Failure in Hypertrophic Cardiomyopathy(Young Investigator's Award for International Students Finalists Lecture (YIA International),Special Program,The 72nd Annual Scientific Meeting of
Subtype Switching of T-Type Ca^ Channels From Cav3.2 to Cav3.1 During Differentiation of Embryonic Stem Cells to Cardiac Cell Lineage
Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin : A new syndrome?
Allele Frequency of Human Endothelial Nitric Oxide Synthase Gene Polymorphism in Abdominal Aortic Aneurysm
Anxiety traits associated with a polymorphism in the serotonin transporter gene regulatory region in the Japanese
Antisense suppression of TSC1 gene product, hamartin, enhances neurite outgrowth in NGF-treated PC12h cells
Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients
Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex
A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome
Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome
自閉症の遺伝子解明の現状 (特集発達障害の新たな遺伝子)
A Cell Line Derived from Sphingomyelinosis Mouse Shows Alterations in Intracellular Cholesterol Metabolism Similar to Those in Type C Niemann-Pick Disease
大脳病変が半球性に急性発症、急性増悪を呈した Tay-Sachs 病の1幼児例
筋強直性ジストロフィー症 (特集筋疾患の病態と診断,治療戦略の最前線) -- (病態と診断)
Prenatal diagnosis of congenital myotonic dystrophy in two Japanese families: direct mutation analysis by a non-radioisotope PCR method and haplotype analysis with flanking DNA markers
授乳を介して 1,2,3,4-tetrachlorodibenzo-ρ-dioxin (1,2,3,4-TCDD) に暴露された新生仔ラット肝における抗酸化酵素 (antioxidant enzymes, AOE) mRNAの反応
Effect of lactational exposure to 1, 2, 3, 4-tetrachlorodibenzo-p-dioxin on cytochrome P-450 1A1 mRNA in the neonatal rat liver: Quantitative analysis by the competitive RT-PCR method
Analysis of the CAG Repeat Number in a patient with Huntington's Disease
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex
Sonic hedgehog expression in Gli3 depressed mouse embryo, Pdn/Pdn
Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese males
MOLECULAR EPIDEMIOLOGY OF TUBEROUS SCLEROSIS
序論
先天代謝異常症 (特集小児科医に役立つ臨床遺伝学) -- (分子遺伝学の基礎と臨床:bedsideからbenchへ)
遺伝子多型の新技術について
精神遅滞
Integration of a transposon into the Gli3 gene in the Pdn mouse
Regulation of Cigarette Smoke-Induced Cytochrome P4501A1 Gene Expression in Osteogenic Disorder Shionogi Rat Liver and in Lung by Large Ascorbic Acid Dose(Biochemistry & Molecular Biology)
Altered Sensitivities to Potential Inhibitors of Cholesterol Biosynthesis in Niemann-Pick Type C Fibroblasts
脆弱X症候群の分子機構と治療 (第1土曜特集精神発達遅滞・自閉症の分子医学) -- (既知の遺伝子異常による発達障害・精神遅滞の分子医学)
The Level of Orally Ingested Vitamin C Affected the Expression of Vitamin C Transporters and Vitamin C Accumulation in the Livers of ODS Rats

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