Severe infantile myotubular myopathy with complete atrioventricular block

スポンサーリンク

概要

• 論文の詳細を見る
• 2008-10-01

著者

• NONAKA Ikuya

  Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurolo

• IRIE Hiroshi

  Department of Materials Engineering, School of Engineering, The University of Tokyo

• FUKUSATO Toshio

  Department of Pathology, Teikyo University School of Medicine

• Fukusato Toshio

  Department Of Pathology Gunma University Hospital

• Irie Hiroshi

  Department Of Anatomy Teikyo University School Of Medicine

• YANAGAWA Yukishige

  Department of Pediatrics, Teikyo University School of Medicine

• MORI Yosuke

  Department of Medicine, Moka Hospital

• TAKEDA Goichi

  Department of Physics and Electronics, Osaka Prefecture University

• Mori Yosuke

  Department Of Hypertension And Cardioprenal Medicine Dokkyo University School Of Medicine

• Nonaka Ikuya

  Department Of Child Neurology National Center Hospital For Mental Mervous And Muscular Disorders Ncn

• Takeda Goichi

  Department Of Pediatrics Teikyo University School Of Medicine

• HIKITA Toshiyuki

  Department of Pediatrics, Teikyo University School of Medicine

• WAKITA Suguru

  Department of Pediatrics, Teikyo University School of Medicine

• NAKAMOTO Natsue

  Department of Pediatrics, Teikyo University School of Medicine

• AKIYAMA Kaori

  Department of Pediatrics, Teikyo University School of Medicine

• OGITA Kaori

  Department of Pediatrics, Teikyo University School of Medicine

• Yanagawa Yukishige

  Department Of Paediatrics Teikyo University School Of Medicine

• Ogita Kaori

  Department Of Pediatrics Teikyo University School Of Medicine

• Wakita Suguru

  Department Of Pediatrics Teikyo University School Of Medicine

• Wakita Suguru

  Department Of Pediatrics Teikyo University Hospital

• Akiyama Kaori

  Department Of Pediatrics Teikyo University School Of Medicine

• Nakamoto Natsue

  Department Of Pediatrics Teikyo University School Of Medicine

• Nonaka Ikuya

  Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology

• Hikita Toshiyuki

  Department Of Pediatrics Teikyo University School Of Medicine

• MORI Yosuke

  Department of Pediatrics, Teikyo University School of Medicine

• Mori Yosuke

  Department of Applied Physics, Graduate School of Engineering, Tohoku University, Sendai 980-8579, Japan

関連論文

• A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
• Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions
• A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I
• PE-251 Ventricular Gradient Variability is Useful Index for Detecting the Presence of Ischemic Heart Disease(ECG/Body surface potential mapping/Holter-5 (A) PE42,Poster Session (English),The 70th Anniversary Annual Scientific Meeting of the Japanese Circu
• OJ-133 Brachial Ankle Pulse Wave Velocity versus Cardio Ankle Vascular Index as a Predictor of the Presence of Coronary Artery Disease(Atherosclerosis, clinical-4 (H) OJ23,Oral Presentation (Japanese),The 70th Anniversary Annual Scientific Meeting of the
• Detection of Atrial Tachyarrhythmia Using Plasma N-Terminal Pro-Atrial Natriuretic Peptide (N-ANP) in Patients without Demonstrable Heart Disease
• Experimental Evidence for Invalidity of Matthiessen's Rule for MOS Inversion Layer Mobility Analysis through Hall Factor Measurement
• TiO_2 Photocatalysis : A Historical Overview and Future Prospects
• Solid pseudopapillary tumor of the pancreas with metastases to the lung and liver
• Myolipoma of the retroperitoneum
• Liver Injury Induced by Levothyroxine in a Patient with Primary Hypothyroidism
• Severe infantile congenital myopathy with nemaline and cytoplasmic bodies: a case report
• Distal myopathy with rimmed vacuoles in a case of opercular syndrome
• Betaxolol Inhibits Extracellular Signal-Regulated Kinase and P70S6 Kinase Activities and Gene Expressions of Platelet-Derived Growth Factor A-Chain and Transforming Growth Factor-β_1 in Dahl Salt-Sensitive Hypertensive Rats
• Benidipine Inhibits Expression of ET-1 and TGF-β1 in Dahl Salt-Sensitive Hypertensive Rats
• Effects of TCV-116 on Endothelin-1 and PDGF A-Chain Expression in Angiotensin II-Induced Hypertensive Rats
• A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom
• Etiology and clinical study of community-acquired pneumonia in 157 hospitalized children
• Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B_1 and B_2
• Recurrent pain attacks in a 3-year-old patient with myoclonus epilepsy associated with ragged-red fibers(MERRF):a single-photon emission computed tomographic(SPECT)and electrophysiological study
• Long-term therapy with cytochrome c, flavin mononucleotide and thiamine diphosphate for a patient with Kearns-Sayre syndrome
• Functional and Morphological Abnormalities of Mitochondria in Human Cells Containing Mitochondrial DNA with Pathogenic Point Mutations in tRNA Genes
• Primary hepatic somatostatinoma developed in a patient with von Recklinghausen's disease
• Interobserver variation in the histopathological assessment of nonalcoholic steatohepatitis
• Extrahepatic Portal-Systemic Encephalopathy without Portal Hypertension
• PJ-783 Plasma Adrenomedullin Levels as a Prognostic Marker in Patients with Chronic Stable Cardiovascular Disease : a Long-term Followup Study(Neurohumoral factors-3 (H) PJ137,Poster Session (Japanese),Poster Session (Japanese),The 70th Anniversary Annual
• Chronic Administration of Combined Vasopeptidase Inhibition and Adrenomedullin has Renoprotective Effect in Dahl Salt-sensitive Rat via Inhihibition of Oxidative Stress(Kidney/Renal Circulation 1 (H), The 69th Annual Scientific Meeting of the Japanese Cir
• A case of Walker-Warburg syndrome
• Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis
• A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy
• Laft Ventricular Mass Relates to Average Systolic Blood Pressure, But Not Loss of Circadian Blood Pressure in Stable Hemodialysis Patinents : an Ambulatory 48-Hour Blood Pressure Study
• Role of cyclosporin A in remitting nephrotic syndrome in a Japanese patient infected with human immunodeficiency virus type 1
• Effect of Coronary Artery Stenosis on the Plasma ANP, N-Terminal Proatrial Natriuretic Peptide (N-ANP), and BNP in Ischemic Heart Disease (Coronary Circulation, Basic/Clinical 4 (IHD), The 69th Annual Scientific Meeting of the Japanese Circulation Society
• PJ-070 Cardiorenoprotective Effect of Fasudil, a Specific Rho-kinase Inhibitor, in Severe Hypertensive Rats(Hypertension, basic-4 (H) PJ12,Poster Session (Japanese),The 70th Anniversary Annual Scientific Meeting of the Japanese Circulation Society)
• PE-417 Level of Kidney Function as a Predictor for Mortality in Patients with Stable Chronic Cardiovascular Disease : Long-term Follow-up Study(Kidney/Renal circulation-2 (H) PE70,Poster Session (English),The 70th Anniversary Annual Scientific Meeting of
• Cardiorenoprotective Effect of Fasudil, a Specific Rho-kinase Inhibitor, in Malignant Hypertensive Rat(Kidney/Renal Circulation 1 (H), The 69th Annual Scientific Meeting of the Japanese Circulation Society)
• Carcinosarcoma of the Liver
• Pressure Dependence of Direct Band Gap at Γ Point in Solids
• Vertically Aligned Carbon Nanotubes Grown at Low Temperatures for Use in Displays
• A Patient with mitochondrial myopathy associated with isolated succinate dehydrogenase deficiency
• Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene
• Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications
• Early onset distal muscular dystrophy with normal dysferlin expression
• A case of congenital neuromuscular disease with uniform type 1 fibers
• Combination treatment with penicillamine and trientine in a patient with Wilson's disease
• Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement
• Indications and Proplems of Coronary Artery Bypass Grafting Without Cardiopulmonary Bypass
• Familial reducing body myopathy
• Cardioprotective Effect of Adrenomedullin in Heart Failure
• Hepatitis B and C virus infection and p53 mutations in human hepatocellular carcinoma in Harbin, Heilongjian Province, China
• Intravenous Arginine Dramatically Improved Hyperammonemia in a Patient with Late-onset Ornithine Transcarbamylase Deficiency
• Gastrointestinal stromal tumor in the duodenum exhibiting hemangiopericytoma-like histological pattern
• Amplification of c-myc and cyclin D1 genes in primary and metastatic carcinomas of the liver
• Leigh syndrome caused by mitochondrial DNA G13513A mutation : frequency and clinical features in Japan
• The First Molecular Evidence That Autophagy Relates Rimmed Vacuole Formation in Chloroquine Myopathy
• INFLUENCE OF DIABETES MELLITUS ON COTONARY ARTERY BYPASS GRAFT SURGERY
• Novel Biosensor for the Rapid Measurement of Estrogen Based on a Ligand-Receptor Interaction
• Plasmablastic lymphoma of the retroperitoneum in an HIV-negative patient
• Severe infantile myotubular myopathy with complete atrioventricular block
• OJ-441 Chronic effect of combined endopeptidase inhibition and adrenomedullin (AM) in heart failure (HF) in rats.(Heart Failure, Basic 3 (M) : OJ54)(Oral Presentation (Japanese))
• OJ-008 Response of adrenomedullin system to cytokine stimulation in rat cardiac fibroblasts : Role of adrenomedullin as an autocrine factor(Neurohumoral Factors 1 (H) : OJ2)(Oral Presentation (Japanese))
• Involvement of Rho-kinase pathway for angiotensin II-induced PAI-1 gene expression and cardiovascular remodeling in hypertensive rats
• Two Molecular Forms of Adrenomedullin (AM) in Pericardial Fluids are Increased in Patients with Valvular Heart Disease
• A follow-up study of congenital non-progressive myopathies
• Sarcomatoid carcinoma with components of small cell carcinoma and undifferentiated carcinoma of the gallbladder
• Delayed gyration with pontocerebellar hypoplasia type 1
• Bilateral occipital cortical dysplasia and white matter T2 hyperintensity with mild non-specific myopathy : Two sibling cases
• Tourette's syndrome in Taiwan : an epidemiological study of tic disorders in an elementary school at Taipei County
• Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
• A case of intraneural perineurioma presenting with monomelic atrophy in a child
• Central core disease and congenital neuromuscular disease with uniform type 1 fibers in one family
• Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy
• Sarcomatous dermatofibrosarcoma protuberans metastasized to the lung : Preservation of CD34 expression in tumor cells
• Congenital familial myopathy with type 2 fiber hypoplasia and type 1 fiber predominance
• Colon Diseases in Recent Years in Japan : From the Viewpoint of a Pathologist
• Co-existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy
• Engineering of a Novel Oral Herpesvirus Vaccine Using Gene Therapy
• Effective prophylactic therapy for cyclic vomiting syndrome in children using valproate
• The significance of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders
• Bioaffinity Sensor to Anti-DNA Antibodies Using DNA Modified Au Electrode
• Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report
• Delayed Effect of Thorotrast Deposition in Humans : Carcinogenesis and Suppression of the Reticuloendothelial System
• C-1-3 The Structure of Bowdensine(Alkaloids and alkaloid biosynthesis)
• Mitochondrial Encephalomyopathy with Elderly Onset of Stroke-Like Episodes
• Application of a new histological staging and grading system for primary biliary cirrhosis to liver biopsy specimens : Interobserver agreement
• Marked Eosinophilia as the First Manifestation of Sclerosing Cholangitis
• Myopathy and neurogenic muscular atrophy in unexpected cardiopulmonary arrest
• ヨウ素欠乏による甲状腺機能低下症と経腸栄養剤のヨウ素濃度の検討
• Mitochondrial Encephalomyopathy Associated with Diabetes Mellitus, Cataract, and Corpus Callosum Atrophy
• Low-Temperature Growth of Vertically Aligned Carbon Nanotubes Using Binary Catalysts
• A case of congenital axonal neuropathy associated with West syndrome
• TiO2 Photocatalysis: A Historical Overview and Future Prospects
• Effects of Epigallocatechin-3-gallate (EGCG) on A549 Lung Cancer Tumor Growth and Angiogenesis
• Vertically Aligned Carbon Nanotubes Grown at Low Temperatures for Use in Displays
• Peripheral neuroepithelioma in the abdominal wall developed in the patient with hepatocellular carcinoma: A case report.
• Localization and developmental changes of mRNA for CDP-diacylglycerol synthase in rat central nervous system.
• Biliary excretion of bile acids and organic anions in rats with dichloroethylene-induced bile canalicular injury
• The First Molecular Evidence That Autophagy Relates Rimmed Vacuole Formation in Chloroquine Myopathy.
• Histopathological characteristics of non-alcoholic fatty liver disease in children : Comparison with adult cases
• Fibrosis score consisting of serum markers successfully predicts pathological fibrotic stages of chronic hepatitis B

もっと見る 閉じる

スポンサーリンク