A case of congenital neuromuscular disease with uniform type 1 fibers
スポンサーリンク
概要
- 論文の詳細を見る
- 2006-04-01
著者
-
Nishino Ichizo
Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology
-
NONAKA Ikuya
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurolo
-
KUROKI SHIGEKAZU
Department of Pediatrics, Kobe Central Municipal Hospital
-
HIGUCHI Yoshihisa
Department of Pediatrics, Kyoto University School of Medicine
-
TSUJI Masahiro
Department of Pediatrics, Kyoto University School of Medicine
-
YOSHIOKA Mieko
Department of Pediatrics, Kobe City Pediatric and General Rehabilitation Center for Challenged
-
Tsuji Masahiro
Department Of Pediatrics Faculty Of Medicine Kyoto University
-
Tsuji Masahiro
Department Of Pediatrics Kobe City General Hospital
-
Nonaka Ikuya
Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology
-
Nonaka Ikuya
Department Of Child Neurology National Center Hospital For Mental Mervous And Muscular Disorders Ncn
-
Maeda Sakamoto
Department Of Pediatrics Kobe City General Hospital
-
Yoshioka Mieko
Department Of Pediatrics Kobe City General Hospital
-
Yoshioka Mieko
Department Of Pediatric Neurology Kobe City Pediatric And General Rehabilitation Center For The Chal
-
Nishino Ichizo
Department Of Neuromuscular Disorders National Institute Of Neuroscience National Center Of Neurolog
-
Higuchi Yoshihisa
Department Of Pediatrics Utano National Hospital
-
Higuchi Yoshihisa
Department Of Cardiology Utano National Hospital
-
Kuroki Shigekazu
Department Of Pediatrics Kobe City General Hospital
-
Kuroki Shigekazu
Department Of Pediatrics Kobe Central Municipal Hospital
-
Tsuji Masahiro
Department Of Mechanical Engineering And Systems Graduate School Of Engineering Osaka University
-
Nishino Ichizo
Department Of Neuromuscular Research National Institute Of Neuroscience National Center Of Neurology
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
- 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)
- PHARMACOKINETICS AND CLINICAL EFFECTS OF CEFOZOPRAN IN PEDIATRIC PATIENTS
- Co-segregation of benign infantile convulsions and paroxysmal kinesigenic choreoathetosis
- 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
- Novel LAMP-2 Mutation in a Family With Danon Disease Presenting With Hypertrophic Cardiomyopathy
- Partial seizures in leukoencephalopathy with swelling and a discrepantly mild clinical course
- CONGENITAL BILATERAL PERISYLVIAN SYNDROME : FIRST REPORT IN A JAPANESE PATIENT
- 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
- A case of Walker-Warburg syndrome
- Dystrophin gene analysis on 130 patients with Duchenne muscular dystrophy with a special reference to muscle mRNA analysis
- Inceased neurons containing neuronal nitric oxide synthase in the brain of a hypoxic-ischemic neonatal rat model
- Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy
- A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy
- Familial Hypercholesterolemia with Cholesteryl Ester Traansfer Protein Deficiency
- A Patient with mitochondrial myopathy associated with isolated succinate dehydrogenase deficiency
- Plasticity and injury in the developing brain
- 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
- Leigh syndrome associated with West syndrome
- A variant of congenital muscular dystrophy
- Early onset distal muscular dystrophy with normal dysferlin expression
- A case of congenital neuromuscular disease with uniform type 1 fibers
- Benign Familial Neonatal Convulsions Followed by Benign Epilepsy with Centrotemporal Spikes in Two Siblings
- Clinical course and prognosis of 27 patients with childhood onset multiple sclerosis in Japan
- PE-120 Reduced Systolic Strain at Left Ventricular Posterior Wall in Patients with Duchenne Muscular Dystrophy(Echo/Doppler 5 (I) : PE21)(Poster Session (English))
- Early-Childhood Progressive Myoclonus Epilepsy Presenting as Partial Seizures in Dentatorubral-Pallidoluysian Atrophy
- Dystonia in a 13-year-old boy with secondary progressive multiple sclerosis
- Familial reducing body myopathy
- Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy
- Effect of β Blocker in Dilated Cardiomyopathy in Duchenne Muscular Dystrophy Patients(Cardiomyopathy, Clinical 4 (M), The 69th Annual Scientific Meeting of the Japanese Circulation Society)
- Expression of ARPP-16/19 in Rat Denervated Skeletal Muscle
- Effect of β Blocker in Duchenne Muscular Dystrophy
- Molecular Cloning and Sequencing of a cDNA Encoding Alanine-Glyoxylate Aminotransferase 2 from Rat Kidney
- 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
- Severe infantile myotubular myopathy with complete atrioventricular block
- SA-07-2(099) Loading Frequency Effect on Near-Threshold and Sub-Threshold Fatigue Crack Growth in SUS304 Steel at an Elevated Temperature(Flaw Assessment at Elevated Temperature 2)
- 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
- A case of hypertensive encephalopathy with extensive spinal lesions on MRI
- Phenotypic spectrum of Fukutinopathy : Most severe phenotype of Fukutinopathy
- Delayed gyration with pontocerebellar hypoplasia type 1
- 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
- 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
- Congenital familial myopathy with type 2 fiber hypoplasia and type 1 fiber predominance
- Co-existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy
- III B17 Long-term prognosis of infantile spasms(IS) : Late relapses of other seizures after the last IS
- The significance of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders
- Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report
- 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
- Mitochondrial Encephalomyopathy with Elderly Onset of Stroke-Like Episodes
- Myopathy and neurogenic muscular atrophy in unexpected cardiopulmonary arrest
- 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 case of congenital axonal neuropathy associated with West syndrome
- 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.