PJ-442 Fukutin Gene Mutations Cause Dilated Cardiomyopathy with Minimal Muscle Weakness(Cardiomyopathy, basic/clinical-6, The 71st Annual Scientific Meeting of the Japanese Circulation Society)

スポンサーリンク

概要

• 論文の詳細を見る
• 2007-03-01

著者

• Nishino Ichizo

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

• MURAKAMI Terumi

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

• HAYASHI Yukiko

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

• Nunoda Shinichi

  Department of Medicine, Tokyo Women's Medical University Medical Center East

• Kotooka Norihiko

  Division of Cardiovascular Medicine, Saga University Faculty of Medicine

• Osawa Makiko

  Department of Pediatrics, Tokyo Women's Medical University

• Hayashi Yukiko

  Department Of Neuromuscular Research National Institute Of Neuroscience

• Kotooka Norihiko

  Division Of Cardiovascular Medicine Saga University Faculty Of Medicine

• Nunoda Shinichi

  Department Of Medicine Tokyo Women's Medical University Medical Center East

• Nunoda Shinichi

  Department Of Internal Medicine Kofu National Hospital

• Nishino Ichizo

  Department Of Neuromuscular Research National Institute Of Neuroscience

• Nishino Ichizo

  Department Of Neuromuscular Disorders National Institute Of Neuroscience National Center Of Neurolog

• Murakami Terumi

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

• Murakami Terumi

  Department Of Pediatrics Tokyo Women's Medical University

• Hayashi Yukiko

  Department Of Internal Medicine Asama General Hospital

• Osawa Makiko

  Department Of Pediatrics Faculty Of Medicine Tokyo Women's Medical University

• Kotooka Norihiko

  Division of Cardiology, Department of Internal Medicine, National Cardiovascular Center

関連論文

• A Case of a Type 1 Diabetes Child with a Type 1 Diabetic Mother
• Evaluation of Cardiac Allograft Vasculopathy by Multidetector Computed Tomography and Whole-Heart Magnetic Resonance Coronary Angiography
• A novel POMT2 mutation causes mild congenital muscular dystrophy with normal brain MRI
• Mutational Analysis of Fukutin Gene in Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy(Molecular Cardiology)
• 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
• Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling
• Subcellular Localization of Fukutin and Fukutin-Related Protein in Muscle Cells
• Localization of Calpain 3 in Human Skeletal Muscle and Its Alteration in Limb-Girdle Muscular Dystrophy 2A Muscle
• PJ-546 Exercise Tolerability and QOL in Japanese Heart Transplant Patients(PJ092,Transplantation/LVAD/Cardiovascular Surgery/CABG (M/IHD),Poster Session (Japanese),The 73rd Annual Scientific Meeting of The Japanese Circulation Society)
• PE-243 Cystatin-C as a Significant Marker of Kidney Dysfunction in Japanese Heart Transplant Patients(PE041,Transplantation/LVAD (M),Poster Session (English),The 73rd Annual Scientific Meeting of The Japanese Circulation Society)
• PE-242 Serial Assessment of the Characteristics in Cardiac Allograft Vasculopathy by Use of IVUS(PE041,Transplantation/LVAD (M),Poster Session (English),The 73rd Annual Scientific Meeting of The Japanese Circulation Society)
• OE-153 Detection of Cardiac Allograft Vasculopathy by Multi-detector CT and Whole-heart MR Coronary Angiography(Transplantation/LVAD (IHD),Oral Presentation(English),The 72nd Annual Scientific Meeting of the Japanese Circulation Society)
• PJ-791 Fractal Analysis of Heart Rate Variability and Mortality in Elderly Community-dwelling People : LILAC study(Preventive medicine/Epidemiology/Education-8 (H) PJ139,Poster Session (Japanese),The 70th Anniversary Annual Scientific Meeting of the Japan
• PJ-702 Common Carotid Intima-media Thickness is Predictive of All-cause and Cardiovascular Mortality in Elderly Community-dwelling People : LILAC study(Preventive medicine/Epidemiology/Education-6 (H) PJ118,Poster Session (Japanese),The 70th Anniversary A
• Association between geriatric functional assessments and heart rate variability
• Functional and scintigraphic assessment of sympathetic reinnervation after heart transplantation
• Evaluation of Cardiac Allograft Vasculopathy by Multidetector Computed Tomography and Whole-Heart Magnetic Resonance Coronary Angiography
• A new clinicopathological entity of IgG4-related autoimmune disease
• PJ-341 Image Quality of Coronary Computed Tomographic Angiography without Beta-blocker Administration for Heart Transplant Recipients(PJ058,CT/MRI (Coronary/Vascular) 1 (I),Poster Session (Japanese),The 73rd Annual Scientific Meeting of The Japanese Circu
• OE-086 Cardiac MR Measurement of Peak Left Ventricular Filling Rate for Noninvasive Screening of Cardiac Allograft Vasculopathy in Heart Transplant Recipients(OE15,Cardiac Function (Clinical) (M),Oral Presentation (English),The 73rd Annual Scientific Meet
• PJ-442 Fukutin Gene Mutations Cause Dilated Cardiomyopathy with Minimal Muscle Weakness(Cardiomyopathy, basic/clinical-6, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
• PE-268 Ultrasonic Tissue Characterization As One of the Markers to Assess Acute or Chronic Rejection in Japanese Heart Transplant Patients(Transplantation/LVAD-2, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
• PE-267 Comparison of Development on Cardiac Allograft Vasculopathy between Pediatric and Adult Japanese Patients(Transplantation/LVAD-2, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
• Wisconsin card sorting test in children with temporal lobe epilepsy
• Allelic Loss of 14q and 22q, NF2 Mutation, and Genetic Instability Occur Independently of c-kit Mutation in Gastrointestinal Stromal Tumor
• MEN1 gene mutations in sporadic neuroendocrine tumors of foregut derivation
• Pyothorax-associated lymphoma : Development of Epstein-Barr virus-associated lymphoma within the inflammatory cavity
• Intracranial meningioma masquerading as a primary pleuropulmonary tumor
• Rasmussen Syndrome : Multifocal Spread of Inflammation Suggested from MRI and PET Findings
• Expression and Antigenicity of Human Herpesvirus 8 Encoded ORF59 Protein in AIDS-Associated Kaposi's Sarcoma
• OE-146 Which is Recommended to Use Cyclosporine or Tacrolimus to Avoid Progression Renal Dysfunction?(Transplantation/LVAD (M) OE25,Oral Presentation (English),The 70th Anniversary Annual Scientific Meeting of the Japanese Circulation Society)
• Dysferlinopathy associated with rigid spine syndrome
• Distal myopathy with rimmed vacuoles in a case of opercular syndrome
• Ecthyma gangrenosum combined with multiple perforations of the small intestine associated with Pseudomonas aeruginosa
• PE-266 Volumetric Analysis of Cardiac Allograft Vasculopathy by Use of Three-Dimensional Intravascular Ultrasound(Transplantation 1 (M) : PE46)(Poster Session (English))
• Agranulocytosis following phenytoin-induced hypersensitivity syndrome
• Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome
• Focal epileptic spasms, involving one leg, manifesting during the clinical course of west syndrome (WS)
• Extremely low-dose ACTH step-up protocol for West syndrome : Maximum therapeutic effect with minimal side effects
• Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan
• Zonisamide for West syndrome : a comparison of clinical responses among different titration rate
• Effect of ACTH Therapy for Epileptic Spasms without Hypsarrhythmia
• EEG in Children with Early-onset Benign Occipital Seizure Susceptibility Syndrome : Panayiotopoulos Syndrome
• Clinical and EEG analysis of initial status epilipticus during infancy in patients with mesial temporal lobe epilepsy
• Myoclonic-astatic epilepsy of early childhood - clinical and EEG analysis of myoclonic-astatic seizures, and discussions on the nosology of the syndrome
• Severe myoclonic epilepsy in infants - a review based on the Tokyo Women's Medical University series of 84 cases
• Acquired epileptiform opercular syndrome: a case report and results of single photon emission computed tomography and computer-assisted electroencephalographic analysis
• A Study of the Effect of Color Photostimulation from a Cathode-rat Tube (CRT) Display on Photosensitive Patients : The Effect of Alternating Red-Cyan Flicker Stimulation
• Surgical Indication for Refractory Childhood Epilepsy
• Clinicopathological study on eyes from cases of Fukuyama type congenital muscular dystrophy
• Novel LAMP-2 Mutation in a Family With Danon Disease Presenting With Hypertrophic Cardiomyopathy
• K-ras mutation in the major duodenal papilla and gastric and colonic mucosa in patients with autoimmune pancreatitis
• FRS-051 Identification of a Novel Disease Gene for Restrictive Cardiomyopathy(Frontier of Cardiomyopathy Research-1 (M) FRS11,Featured Research Session,The 70th Anniversary Annual Scientific Meeting of the Japanese Circulation Society)
• Hyperhomocysteinemia Accelerates Cardiac Allograft Vasculopathy(Transplantation (M), The 69th Annual Scientific Meeting of the Japanese Circulation Society)
• Effect of Sympathetic Reennervation on Exercise Performance after Heart Transplantation(Transplantation (M), The 69th Annual Scientific Meeting of the Japanese Circulation Society)
• PE-275 Ultrasonic Tissue Characterization With Integrated Backscatter As A Non-Invasive Marker To Assess The Effectiveness Of Beta-Blocker Therapy In Japanese Patient(Cardiomyopathy, Clinical 2 (M) : PE47)(Poster Session (English))
• PE-268 Change in Quality of Life from before to after Heart Transplantation in Japanese Patients(Transplantation 1 (M) : PE46)(Poster Session (English))
• OE-264 Rise in the low frequency component of heart rate variability during head-up tilt is related to decreased heart rate complexity(Autonomic Nervous System 3 (H) : OE33)(Oral Presentation (English))
• Quality of Life after Heart Transplantation in Japanese Patients
• Fractal Scaling of Heart Rate Alters Shortly after Transplantation in Heart Transplanted Patients
• Serial Assessment of Cardiac Allograft Vasculopathy
• The Assessment of Heart Rate Variability after Heart Transplantation
• 0747 POINTS OF POST-TRANSPLANT (TX) CARE IN CHRONIC PHASE : FROM THE EXPERIENCE OF CARE OF OVERSEA POST-TX PATIENTS
• 0691 THE DIFFERENCE BETWEEN PEDIATRIC AND ADULT HEART TRANSPLANTATION AND THE POINT OF POSTTRANSPLANT CARE IN PEDIATRIC CASES
• THE FIRST PEDIATRIC JAPANESE CASE TO UNDERGO HEART TRANSPLANTATION IN THE UTAH CARDIAC TRANSPLANT PROGRAM IN THE UNITED STATES
• TWO PEDIATRIC JAPANESE PATIENTS WHO UNDERWENT HEART TRANSPLANTATION IN UTAH CARDIAC TRANSPLANT PROGRAM IN THE UNITED STATES
• Study on surgical treatment of intractable childhood epilepsy
• Atonic Epileptic Drop Attacks Associated with Generalized Spike-and-Slow Wave Complexes: Video-Polygraphic Study in Two Patients
• Long*Term Prognosis of Lennox-Gastaut Syndrome
• Neuropsychological study of localization-related epilepsy in children
• Pial-glial barrier abnormalities in fetuses with Fukuyama congenital muscular dystrophy
• Fukuyama congenital muscular dystrophy: Cortical dysplasia of the cerebrum in a 20 week fetus
• Benefits of FK 506 for refractory eye symptoms in a young child with ocular myasthenia gravis
• Pathological study of bronchospasms/tracheomalasia in patients with severe motor and intellectual disabilities
• Thalamic lesions in a long-surviving child with spinal muscular atrophy type I : MRI and EEG findings
• A 1-year-old infant with McArdle disease associated with hyper-creatine kinase-emia during febrile episodes
• Study on Photo-Pattern Sensitivity in Patients with Electronic Screen Game : Induced Seizures (ESGS): Effects of Spatial Resolution, Brightness, and Pattern Movement
• Familial antiphospholipid antibody in a child with involuntary movement and deterioration
• The assessment of heart rate and blood pressure variablilities after heart transplantation
• Electrophysiological study of myoclonic seizures in children
• Creatine monohydrate therapy in a Leigh syndrome patient with A8344G mutation
• Beta-Blocker Therapy for Cardiac Dysfunction in Patients With Muscular Dystrophy
• Local Delivery of Low-Dose ONO-4817, a Broad-Spectrum Matrix Metalloproteinase Inhibitor, Reduces Neointimal Hyperplasia Coupled with Decreased Collagen Deposition
• Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation
• Early onset distal muscular dystrophy with normal dysferlin expression
• A case of congenital neuromuscular disease with uniform type 1 fibers
• Long-term effect of flunarizine on patients with alternating hemiplegia of childhood in Japan
• Discharge diagnoses in infants with apparent life-threatening event
• Familial reducing body myopathy
• A comparative study of high-dose and low-dose ACTH therapy for West syndrome
• Study on the Early-Onset Variant of Benign Childhood Epilepsy with Occipital Paroxysms Otherwise Described as Early-Onset Benign Occipital Seizure Susceptibility Syndrome
• Denervation Enhances the Expression of SHPS-1 in Rat Skeletal Muscle
• Expression of ARPP-16/19 in Rat Denervated Skeletal Muscle
• The First Molecular Evidence That Autophagy Relates Rimmed Vacuole Formation in Chloroquine Myopathy
• Assessment of SMAD4, p53, and Ki-67 Alterations as a Predictor of Liver Metastasis in Human Colorectal Cancer
• PE-312 Clinical and Molecular Analyses of Nuclear Envelopathy(Cardiomyopathy, basic/clinical-5, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
• Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia
• Bilateral occipital cortical dysplasia and white matter T2 hyperintensity with mild non-specific myopathy : Two sibling cases
• Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

もっと見る 閉じる

スポンサーリンク