A common mutation and a novel mutation in Japanese patients with van der Knaap disease
スポンサーリンク
概要
- 論文の詳細を見る
- 2003-12-01
著者
-
KANAZAWA Naomi
Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP
-
TSUJINO Seiichi
Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP
-
SHIMONO MASAYUKI
Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health
-
Kanazawa Naomi
Department Of Inherited Metabolic Disease National Institute Of Neuroscience National Center Of Neur
-
OBA Hiroshi
Department of Radiology, Yamanashi Medical University
-
YONEYAMA HITOSHI
Department of Brewing and Fermentation, Tokyo University of Agriculture
-
Shimizu T
Department Of Neurology Teikyo University School Of Medicine
-
Shimizu Teruo
Department Of Neurology Teikyo University School Of Medicine
-
Tsujino Seiichi
Department Of Inherited Metabolic Disease National Institute Of Neuroscience National Center Of Neur
-
KAWAKAMI Akihiro
Department of Pediatrics, University of Occupational and Environmental Health
-
HATANAKA Yuuki
Department of Neurology, Teikyo University School of Medicine
-
Shimono Masayuki
Department Of Pediatrics School Of Medicine University Of Occupational And Environmental Health
-
Kawakami Akihiro
Department Of Pediatrics University Of Occupational And Environmental Health
-
Hatanaka Yuuki
Department Of Neurology Teikyo University School Of Medicine
-
Yoneyama Hitoshi
Department Of Brewing And Fermentation Tokyo University Of Agriculture
-
Yoneyama Hitoshi
Department Of Pediatrics Kitakyushu Rehabilitation Center For Children With Disabilities
-
Oba Hiroshi
Department Of Radiology Teikyo University School Of Medicine
-
SHIMONO Masayuki
Department of Pediatrics, University of Occupational and Environmental Health
-
OBA Hiroshi
Department of Radiology Showa General Hospital
関連論文
- A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome
- Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis : a common mutation, R179X
- Girl with nephrotic syndrome after peripheral blood stem cell transplantation
- An infantile/juvenile form of Alexander disease caused by a R79H mutation in GFAP
- Decreased Signal Intensity of Cerebral Cortex on T2 - Weighted MR Images
- Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid α-glucosidase"
- Infantile neuronal ceroid lipofuscinosis : The first reported case in Japan diagnosed by palmitoyl-protein thioesterase enzyme activity deficiency
- MR imaging and ^1H-MR spectroscopy of a case of van der Knaap disease
- A common mutation and a novel mutation in Japanese patients with van der Knaap disease
- A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease) : molecular genetic study
- Molecular genetic study in Japanese patients with Alexander disease : a novel mutation, R79L
- Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis
- Isolation of Sphaerotilus natans-Lysing Microorganism from Activated Sludge
- Distribution of transient receptor potential vanilloid 1(TRPV1)in the trigeminovascular system of the rat
- AMELIORATION OF PROLIDASE DEFICIENCY IN FIBROBLASTS USING ADENOVIRUS MEDIATED GENE TRANSFER
- Oral Health of Patients with Parkinson's Disease : Factors Related to Their Better Dental Status
- A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P
- Effect of exercise on higher brain function : a single-trial analysis of auditory and visual ERP components and reaction time
- Effects of immunoglobulin therapy in experimental allergic neuritis (EAN) of the Lewis rat induced by P2 myelin protein
- T Cell Activation in Demyelinating Neuropathy Associated with "Benign" Anti-Myelin Associated Glycoprotein IgM Gammopathy and in MS : Soluble Interleukin-2 Receptor Levels in Serum and Cerebrospinal Fluid
- Asymmetric Electrosynthesis of Amino Acid Using an Electrode Modified with Amino Acid Oxidase and Electron Mediator
- Anterograde Amnesia Associated With Infarction of the Anterior Fornix and Genu of the Corpus Callosum
- Clinical study of childhood acute disseminated encephalomyelitis, multiple sclerosis, and acute transverse myelitis in Fukuoka Prefecture, Japan
- Auditory perception in auditory neuropathy : Clinical similarity with auditory verbal agnosia
- Stimulation of filamentous Bulking of Activated Sludge by Lactic Acid, Acetic Acid, and Glucose.
- Dramatic intestinal uptake of ^Tc pertechnetate in a pediatric patient with enteritis
- Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones
- A monoclonal antibody against a synthetic polypeptide fragment of dystrophin (amino acid sequence from position 215 to 264).
- Association of dystroglycan and laminin-2 coexpression with myelinogenesis in peripheral nerves
- Molecular shape of dystrophin purified from rabbit skeletal muscle myofibrils.
- Isolation of dystrophin in denatured form from rabbit skeletal muscle myofibrils.