Familial reducing body myopathy

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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

• HAYASHI Yukiko

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

• NONAKA Ikuya

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

• Hayashi Yukiko

  Department Of Neuromuscular Research National Institute Of Neuroscience Ncnp

• SASAKI Masayuki

  Department of Health Sciences, School of Medicine, Kyushu University

• Sasaki Masayuki

  Department Of Child Neurology National Center Of Neurology And Psychiatry (ncnp)

• Nonaka Ikuya

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

• Nishino Ichizo

  Department Of Neuromuscular Research National Institute Of Neuroscience Ncnp

• Nishino Ichizo

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

• OHSAWA Maki

  Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders,

• LIEWLUCK Teerin

  Department of Neuromuscular Research, National Institute of Neuroscience, NCNP

• OGATA Katuhisa

  Department of Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, NCNP

• IIZUKA Takahiro

  Department of Neurology, Kitasato University School of Medicine

• Ohsawa Maki

  Department Of Child Neurology National Center Hospital For Mental Nervous And Muscular Disorders Nat

• Ogata Katuhisa

  Department Of Neurology National Center Hospital For Mental Nervous And Muscular Disorders Ncnp

• Liewluck Teerin

  Department Of Neuromuscular Research National Institute Of Neuroscience Ncnp

• Sasaki Masayuki

  Department Of Anesthesiology Gunma University Graduate School Of Medicine

• Nonaka Ikuya

  Department Of Neuromuscular Research National Institute Of Neuroscience Ncnp

• Hayashi Yukiko

  Department Of Internal Medicine Asama General Hospital

• Iizuka Takahiro

  Department Of Neurology Kitasato University School Of Medicine

• Iizuka Takahiro

  Department Of Medicine (neurology) Kitasato University School Of Medicine

関連論文

• 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
• 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)
• Extraosseous accumulation of ^Tc-HMDP to radiation nephropathy, mimicking recurrent neuroblastoma
• Alterations of tumor suppressor genes (Rb, p16, p27 and p53) and an increased FDG uptake in lung cancer
• Comparison of ^FDG-PET with ^Tc-HMDP scintigraphy for the detection of bone metastases in patients with breast cancer
• PET evaluation of the relationship between D_2 receptor binding and glucose metabolism in patients with parkinsonism
• Lesion detectability of a gamma camera based coincidence system with FDG in patients with malignant tumors : A comparison with dedicated positron emission tomography
• An analysis of the physiological FDG uptake pattern in the stomach
• Differential FDG accumulation associated with GLUT-1 expression in a patient with lymphoma
• Clinical impact of whole body FDG-PET on the staging and therapeutic decision making for malignant lymphoma
• ^C-methionine uptake in cerebrovascular disease : A comparison with ^F-FDG PET and ^Tc-HMPAO SPECT
• The usefulness of dipyridamole thallium-201 single photon emission computed tomography for predicting perioperative cardiac events in patients undergoing non-cardiac vascular surgery
• Comparison of MET-PET and FDG-PET for differentiation between benign lesions and malignant tumors of the lung
• 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
• Expression and Antigenicity of Human Herpesvirus 8 Encoded ORF59 Protein in AIDS-Associated Kaposi's Sarcoma
• Severe infantile congenital myopathy with nemaline and cytoplasmic bodies: a case report
• Dysferlinopathy associated with rigid spine syndrome
• Distal myopathy with rimmed vacuoles in a case of opercular syndrome
• Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms
• Ecthyma gangrenosum combined with multiple perforations of the small intestine associated with Pseudomonas aeruginosa
• Hyperkinetic movement disorder in a child treated by globus pallidus stimulation
• Surgical Treatment of a Case of Early Infantile Epileptic Encephalopathy with Suppression-Bursts Associated with Focal Cortical Dysplasia
• Novel LAMP-2 Mutation in a Family With Danon Disease Presenting With Hypertrophic Cardiomyopathy
• SPECT evaluation of cerebral blood flow during arm exercise in patients with subclavian steal
• K-ras mutation in the major duodenal papilla and gastric and colonic mucosa in patients with autoimmune pancreatitis
• A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom
• 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
• Oral etodolac, a COX-2 inhibitor, reduces postoperative pain immediately after fast-track cardiac surgery
• 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
• Basal ganglia lesions in a patient with 3-hydroxyisobutyric aciduria
• Fluctuating hearing loss, episodic headache, and stroke with platelet hyperaggregability : Coexistence of auditory neuropathy and cochlear hearing loss
• II C12 Treatment of intractable epilepsies with supratherapeutic levels of phenobarbital
• Mechanical ventilation care in severe childhood neurological disorders
• Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis
• A severely brain-damaged case of 3-hydroxyisobutyric aciduria
• Otoacoustic emission in patients with neurological disorders who have auditory brainstem response abnormality
• Transient seizure disappearance due to bilateral striatal necrosis in a patient with intractable epilepsy
• Panic Disorder in Irritable Bowel Syndrome
• A Patient with mitochondrial myopathy associated with isolated succinate dehydrogenase deficiency
• Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation
• 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
• Cerebral blood flow and vascular response to hypercapnia in hypertensive patients with leukoaraiosis
• 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
• Hypoxic Effects on Cholesterol Metabolism of Cultured Rat Aortic and Brain Microvascular Endothelial Cells, and Aortic Vascular Smooth Muscle Cells
• Magnetic resonance imaging in congenital facial palsy
• Familial reducing body myopathy
• Neuropathology of early-infantile epileptic encephalopathy with suppression-bursts ; comparison with those of early myoclonic encephalopathy and West syndrome
• Fabrication and Characterization of Nb-(Nb Nanoconstrictions)-NbN Short Weak Links
• Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum
• Abnormal cerebral glucose metabolism in alternating hemiplegia of childhood
• Denervation Enhances the Expression of SHPS-1 in Rat Skeletal Muscle
• Expression of ARPP-16/19 in Rat Denervated Skeletal Muscle
• Biodistribution and breast tumor uptake of 16α-[^F]-fluoro-17β-estradiol in rat
• 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
• Relapse patterns of localized non-Hodgkin's lymphoma of the head and neck after clinical remission: results of a strict follow-up procedure
• Sex-related differences in the muscarinic acetylcholinergic receptor in the healthy human brain : A positron emission tomography study
• Cerebral muscarinic acetylcholinergic receptor measurement in Alzheimer's disease patients on ^C-N-methyl-4-piperidyl benzilate : Comparison with cerebral blood flow and cerebral glucose metabolism
• Effective immunoglobulin therapy for brief tonic seizures in methylmalonic acidemia
• A clinical evaluation of FDG-PET to assess the response in radiation therapy for bronchogenic carcinoma
• FDG-PET in infectious lesions: The detection and assessment of lesion activity
• Longitudinal MR findings in a patient with hemimegalencephaly associated with tuberous sclerosis
• Assessment of SMAD4, p53, and Ki-67 Alterations as a Predictor of Liver Metastasis in Human Colorectal Cancer
• Severe infantile myotubular myopathy with complete atrioventricular block
• Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications
• PE-312 Clinical and Molecular Analyses of Nuclear Envelopathy(Cardiomyopathy, basic/clinical-5, The 71st Annual Scientific Meeting of the Japanese Circulation Society)
• A follow-up study of congenital non-progressive myopathies
• Non-convulsive status epilepticus and audiogenic seizures complicating a patient with asymmetrical epileptic spasms
• Thiamine-deficient encephalopathy due to excessive intake of isotonic drink or overstrict diet therapy in Japanese children
• Postnatal evolution of cortical malformation in the "non-affected" hemisphere of hemimegalencephaly
• Delayed gyration with pontocerebellar hypoplasia type 1
• Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia
• Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency
• 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
• Hemifacial seizures due to ganglioglioma of cerebellum
• Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
• Brain perfusion SPECT and EEG findings in children with autism spectrum disorders and medically intractable epilepsy
• 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
• Congenital familial myopathy with type 2 fiber hypoplasia and type 1 fiber predominance

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