PE-312 Clinical and Molecular Analyses of Nuclear Envelopathy(Cardiomyopathy, basic/clinical-5, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
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概要
- 論文の詳細を見る
- 社団法人日本循環器学会の論文
- 2007-03-01
著者
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Nishino Ichizo
Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology
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HAYASHI Yukiko
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurolo
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Hayashi Yukiko
Department Of Neuromuscular Research National Institute Of Neuroscience
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Nishino Ichizo
Department Of Neuromuscular Research National Institute Of Neuroscience
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Nishino Ichizo
Department Of Neuromuscular Disorders National Institute Of Neuroscience National Center Of Neurolog
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Hayashi Yukiko
Department Of Internal Medicine Asama General Hospital
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HAYASHI Yukiko
Department of Neuromuscular Research, National Institute of Neuroscience
関連論文
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- 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
- A new clinicopathological entity of IgG4-related autoimmune disease
- 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)
- 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
- Polymerase chain reaction screening of immunoglobulin heavy chain and T cell receptor γ gene rearrangements: A practical approach to molecular DNA analysis of non-Hodgkin's lymphoma in a surgical pathology laboratory
- Pyothorax-associated lymphoma : Development of Epstein-Barr virus-associated lymphoma within the inflammatory cavity
- Intracranial meningioma masquerading as a primary pleuropulmonary tumor
- Expression and Antigenicity of Human Herpesvirus 8 Encoded ORF59 Protein in AIDS-Associated Kaposi's Sarcoma
- 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
- 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
- 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
- Familial reducing body myopathy
- 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
- Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy
- OJ-120 Clinical features of cardiac involvement in 51 patients with genetically-confirmed Danon disease(Cardiomyopathy, basic / clinical(02)(M),Oral Presentation (Japanese),The 72nd Annual Scientific Meeting of the Japanese Circulation Society)
- Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47
- Usefulness of the Combination of Pre- and Intraoperative Selective Intraarterial Calcium Injection to Detect Residual Insulinomas
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- Mitochondrial Encephalomyopathy Associated with Diabetes Mellitus, Cataract, and Corpus Callosum Atrophy
- Novel Mutations in the Gene Encoding Acid .ALPHA.-1,4-glucosidase in a Patient with Late-onset Glycogen Storage Disease Type II (Pompe Disease) with Impaired Intelligence
- Myotonic dystrophy type 2 is rare in the Japanese population
- A Novel Mutation of the GAA Gene in a Patient with Adult-onset Pompe Disease Lacking a Disease-specific Pathology
- Expression of ARPP-16/19 in Rat Denervated Skeletal Muscle
- The First Molecular Evidence That Autophagy Relates Rimmed Vacuole Formation in Chloroquine Myopathy.