A Patient with mitochondrial myopathy associated with isolated succinate dehydrogenase deficiency
スポンサーリンク
概要
- 論文の詳細を見る
- 2000-05-01
著者
-
NONAKA Ikuya
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurolo
-
GOTO Yu-ichi
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, Nati
-
YAMAMOTO HARUYASU
Department of Orthopedic Surgery, Ehime University School of Medicine
-
Goto Yu-ichi
Department Of Mental Retardation And Birth Defect Research National Institute Of Neuroscience Nation
-
MATSUBARA MASAAKI
Department of Orthopedic Surgery, Tokyo Medical Dental University
-
Goto Yu-ichi
Department Of Child Neurology National Center Hospital For Mental Nervous And Musculardisorders Nati
-
Yamamoto Haruyasu
Department Of Bone And Joint Surgery Ehime University Graduate School Of Medicine
-
Yamamoto Haruyasu
Department Of Orthopedics Faculty Of Medicine Tokyo Medical And Dental University
-
SUGIMOTO Junko
Department of Pediatrics, Faculty of Medicine, Tokyo Medical and Dental University
-
SHIMOHIRA Masayuki
Department of Pediatrics, Faculty of Medicine, Tokyo Medical and Dental University
-
OSAWA Yukiko
Department of Pediatrics, Faculty of Medicine, Tokyo Medical and Dental University
-
Osawa Yukiko
Department Of Pediatrics Faculty Of Medicine Tokyo Medical And Dental University
-
Nonaka Ikuya
Department Of Child Neurology National Center Hospital For Mental Mervous And Muscular Disorders Ncn
-
Sugimoto Junko
Department Of Pediatrics Faculty Of Medicine Tokyo Medical And Dental University
-
Sugimoto Junko
Department Of Anesthesiology Chuno Kosei Hospital
-
Shimohira Masayuki
Department Of Pediatrics Faculty Of Medicine Tokyo Medical And Dental University
-
Shimohira Masayuki
Department Of Cardiovascular Surgery Tohoku University Graduate School Of Medicine
-
Nonaka Ikuya
Department Of Ultrastructural Reasearch National Institute Of Neuroscience National Center Of Neurol
-
Matsubara Masaaki
Department Of Orthopedics Faculty Of Medicine Tokyo Medical And Dental University
-
Matsubara Masaaki
Department Of Orthopaedic Surgery Nissan Tamagawa Hospital
-
Matsubara Masaaki
Department of Applied Chemistry, Faculty of Engineering, Osaka University
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
- Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
- Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
- Dumbbell-shaped chondrosarcoma that primarily developed in the cervical spine : a case report
- Proliferative activity of osteosarcoma cells : comparison of osteoblastic and nonosteoblastic regions
- Definitive intraoperative radiotherapy for musculoskeletal sarcomas and malignant lymphoma in combination with surgical excision
- Severe infantile congenital myopathy with nemaline and cytoplasmic bodies: a case report
- Continuous intrathecal infusion of SB203580, a selective inhibitor of p38 mitogen-activated protein kinase, reduces the damage of hindlimb function after thoracic spinal cord injury in rat
- Pathological findings of an autograft containing osteosarcoma treated by liquid nitrogen retrieved 2 years after implantation
- A case of nodular-type muscular sarcoidosis : findings of imaging, histopathology, and polymerase chain reaction
- Reconstruction surgery for patients with musculoskeletal tumor, using a pasteurized autogenous bone graft
- Distal myopathy with rimmed vacuoles in a case of opercular syndrome
- Structuring parameters for assessment of bone quality using a morphological filter and star volume analysis : structuring property in the cancellous bone of the human femoral head
- Early onset distal muscular dystrophy
- A carrier of Duchenne muscular dystrophy with dilated cardiomyopathy but no skeletal muscle symptom
- Non Invasive assessment of bone quality
- 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
- A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy
- Correction of hallux valgus deformity using the center of rotation of angulation method
- An Asian case of fibroblastic rheumatism : clinical, radiological, and histological features
- Proposed novel unified nomenclature for range of joint motion : method for measuring and recording for the ankles, feet, and toes
- Isolated plantar dislocation of the middle cuneiform : a case report
- Expression and phosphorylation of TOPK during spermatogenesis
- Recovery of extensor muscle strength in athletes after anterior cruciate ligament reconstruction
- A Patient with mitochondrial myopathy associated with isolated succinate dehydrogenase deficiency
- Perinatal and Postnatal Exposure to Bisphenol A Increases Adipose Tissue Mass and Serum Cholesterol Level in Mice
- Evaluation of clinical prognosis and activities of daily living using functional independence measure in patients with hip fractures
- Histopathological characteristics of early rheumatoid arthritis: a case one month after clinical onset
- A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy
- 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
- Direct Evidence for Two Distinct Forms of the Flavoprotein Subunit of Human Mitochondrial Complex II (Succinate-Ubiquinone Reductase)
- Familial reducing body myopathy
- Gait analysis in an osteoarthritis patient with restoration of the hip joint space following contralateral total hip arthroplasty : a case report
- CT image evaluation of the internal rotation limit prior to bony impingement after total hip arthroplasty
- Expression of ARPP-16/19 in Rat Denervated Skeletal Muscle
- Leigh syndrome caused by mitochondrial DNA G13513A mutation : frequency and clinical features in Japan
- Expression of sphingosine kinase 2 in synovial fibroblasts of rheumatoid arthritis contributing to apoptosis by a sphingosine analogue, FTY720
- The First Molecular Evidence That Autophagy Relates Rimmed Vacuole Formation in Chloroquine Myopathy
- REM Sleep Components Predict the Response to Initial Treatment of Infantile Spasms
- Severe infantile myotubular myopathy with complete atrioventricular block
- Progressive myoclonus epilepsy with unusual neuropathologic features
- Identification of independent predictors for intravenous thiopental-induced yawning
- Repetitive acute shock following tracheal extubations after neurosurgery for a cerebellar tumor
- A follow-up study of congenital non-progressive myopathies
- Video analysis of gross body movements during sleep
- Delayed gyration with pontocerebellar hypoplasia type 1
- Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia
- Intestinal pseudo-obstruction in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) associated with phenytoin therapy
- Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency
- Mitochondrial encephalomyopathy
- 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
- Low-dose levodopa is effective for laryngeal dystonia in xeroderma pigmentosum group A
- Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
- Systemic growth hormone corrects sleep disturbance in Smith-Magenis syndrome
- 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
- Quantitative analysis of paradoxical inward rib cage movement during sleep in children
- 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
- The significance of type 1 fiber atrophy (hypotrophy) in childhood neuromuscular disorders
- Merosin-negative non-Fukuyama-type congenital muscular dystrophy: a case report
- 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
- Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis
- Evaluation of Bony Impingement in Regard to Internal Rotation Limit after Total Hip Arthroplasty Using Rotation Matrix
- Profiles of blood biomarkers in alternating hemiplegia of childhood-Increased MMP-9 and decreased substance P indicates its pathophysiology
- A case of congenital axonal neuropathy associated with West syndrome
- Bromine Addition to Cyanonorbornene Derivatives
- Reconstruction surgery for patients with musculoskeletal tumor, using a pasteurized autogenous bone graft
- Expression of ARPP-16/19 in Rat Denervated Skeletal Muscle
- The First Molecular Evidence That Autophagy Relates Rimmed Vacuole Formation in Chloroquine Myopathy.