Molecular genetic study in Japanese patients with Alexander disease : a novel mutation, R79L
スポンサーリンク
概要
- 論文の詳細を見る
- 2003-03-01
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
-
Kimura Masahiko
島根大学 医学部小児科学
-
Kimura M
Department Of Pediatrics Shimane University School Of Medicine
-
SUGAI Kenji
National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology an
-
Sugai Kenji
国立精神･神経センター病院 小児神経科
-
Sugai Kenji
Department Of Neuropediatrics National Center Of Neurology And Psychiatry
-
KATO Zenichiro
Department of Pediatrics, Gifu University Graduate School of Medicine
-
SHIMOZAWA Nobuyuki
Division of Genomics Research, Life Science Research Center, Gifu University
-
IMAMURA Atsushi
Department of Pediatrics, Gifu University School of Medicine
-
ITO Masayuki
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychia
-
Sugai Kenji
National Center Hospital For Mental Nervous And Muscular Disorders National Center For Neurology And
-
Kato Zenichiro
Department Of Pediatrics Gifu University Graduate School Of Medicine
-
Kanazawa Naomi
奈良県立医科大学 小児科学
-
Kanazawa N
National Center Of Neurology And Psychiatry Tokyo Jpn
-
Kanazawa Naomi
Department Of Inherited Metabolic Disease National Institute Of Neuroscience National Center Of Neur
-
OKA Akira
Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori Univer
-
Sasaki Masayuki
Department Of Child Neurology National Center Hospital Of Neurology And Psychiatry National Center O
-
Ohta Takao
Department of Pediatrics, Faculty of Medicine, University of the Ryukyus
-
SHIROMA Naohide
Department of Inherited Metabolic Disease, National Institute of Neuroscience, National Center of Ne
-
SHIOZAWA Nobuyuki
Department of Pediatrics, Gifu University School of Medicine
-
OHTANI Kyoichi
Department of Pediatrics, Tottori Prefectural Central Hospital
-
WAKABAYASHI Kazuyo
Division of Neurology, Kanagawa Children's Medical Center
-
IAI Mizue
Division of Neurology, Kanagawa Children's Medical Center
-
SASAKI Masayuki
National Center Hospital for Mental, Nervous, Muscular Disorders, National Center of Neurology and P
-
KAGA Makiko
National Center Hospital for Mental, Nervous, Muscular Disorders, National Center of Neurology and P
-
Izumi Mina
Division Of Neurology Kanagawa Children's Medical Center
-
Ohta Takao
Departmen Of Pediatrics University Of The Ryukyu School Of Medicine
-
Ohtani Kyoichi
Department Of Pediatrics Tottori Prefectural Central Hospital
-
Shiozawa Nobuyuki
Department Of Pediatrics Gifu University School Of Medicine
-
Wakabayashi Kazuyo
Division Of Neurology Kanagawa Children's Medical Center
-
Sasaki Masayuki
National Center Hospital For Mental Nervous Muscular Disorders National Center Of Neurology And Psyc
-
Oka Akira
Division Of Child Neurology Institute Of Neurological Science Tottori University
-
Shiroma N
Department Of Inherited Metabolic Disease National Institute Of Neuroscience National Center Of Neur
-
Kaga Makiko
National Center Hospital For Mental Nervous Muscular Disorders National Center Of Neurology And Psyc
-
Tsujino S
Department Of Inherited Metabolic Disease National Institute Of Neuroscience National Center Of Neur
-
Tsujino Seiichi
Department Of Inherited Metabolic Disease National Institute Of Neuroscience National Center Of Neur
-
Imamura Atsushi
Department Of Pediatrics Gifu Prefectral Gifu Hospital
-
Imamura Atsushi
Department Of Pediatrics Gigu Prefectural Gifu Hospital
-
Kimura Masahiko
National Center Hospital For Mental Nervous Muscular Disorders National Center Of Neurology And Psyc
-
Shimozawa Nobuyuki
Gifu Univ. Gifu Jpn
-
Oka Akira
Division Of Child Neurology National Center Of Child Health And Development
-
Sasaki Masayuki
Departments Of Child Neurology National Center Hospital For Neurology And Psychiatry National Center
-
Kimura Masahiko
Department Of Pediatrics Faculty Of Medicine Shimane University
-
Ito Masayuki
Department Of Mental Retardation And Birth Defect Research National Institute Of Neuroscience Ncnp
-
Ito Masayuki
Department Of Anatomy And Cell Biology Shinshu University School Of Medicine
-
Ito Masayuki
Department Of Mental Retardation And Birth Defect Research National Institute Of Neuroscience Nation
-
Iai Mizue
Division Of Neurology Kanagawa Children's Medical Center
-
Sasaki Masayuki
Department of Child Neurology, National Center of Neurology and Psychiatry
-
OKA Akira
Division of Basic Molecular Science and Molecular Medicine, School of Medicine, Tokai University
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
- Pilot study on neonatal mass screening for inborn errors of metabolism by gas chromatography-mass spectrometry : eighteen months experience in Shimane Area
- Single Nucleotide Polymorphisms and Haplotypes of CYP1A2 in a Japanese Population
- Twenty-six Novel Single Nucleotide Polymorphisms and their Frequencies of the NR113 (CAR) Gene in a Japanese Population
- Eleven Novel Single Nucleotide Polymorphisms in the NR1I2 (PXR) Gene, Four of which Induce Non-synonymous Amino Acid Alterations
- Parents of childhood X-linked adrenoleukodystrophy : High risk for depression and neurosis
- Evaluation of ADL in patients with Hunter disease using FIM score
- Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficiencies
- Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders
- Epidemiology of X-linked adrenoleukodystrophy in Japan
- Urinary organic acids in peroxisomal disorders : a simple screening method
- The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6
- The clinical course of childhood and adolescent adrenoleukodystrophy before and after Lorenzo's oil
- Congenital myotonic dystrophy : report of paternal transmission
- Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans
- Prenatal diagnosis of peroxisomal d-3-hydroxyacyl-CoA dehydratase / d-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency
- A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata
- Epilepsy in Peroxisomal Diseases
- Trial of docosahexaenoic acid supplementation on a Japanese patient with a peroxisome biogenesis defect
- INCIDENCE OF PEROXISOMAL DISORDERS IN JAPAN
- Expression, Purification and Structural Analysis of Human IL-18 Binding Protein : A Potent Therapeutic Molecule for Allergy
- Development of Fluorescence-linked Immunosorbent Assay for High Throughput Screening of Interferon-γ
- Genetic defects in downregulation of IgE production and a new genetic classification of atopy
- Interleukin-18 is associated with the severity of atopic dermatitis
- Characteristic findings of auditory brainstem response and otoacoustic emission in the Bronx waltzer mouse
- Human Anti-Human IL-18 Antibody Recognizing the IL-18-Binding Site 3 with IL-18 Signaling Blocking Activity
- An infantile/juvenile form of Alexander disease caused by a R79H mutation in GFAP
- Natural history of X-linked adrenoleukodystrophy in Japan
- Molecular analysis of AVPR2 gene in a Japanese patient With X-linked nephrogenic diabetes insipidus, congenital heart disease and mental retardation
- Gas chromatographic-mass spectrometric screening for organic acidemias using dried urine filter paper : determination of α-ketoacids
- Gas chromatography-mass spectrometry with tert.-butyldimethylsilyl derivatization : use of the simplified sample preparations and the automated data system to screen for organic acidemias
- Gas chromatography-mass spectrometry with tert. -butyldimethylsilyl derivatization : use of the simplified sample preparations and the automated data system to screen for organic acidemias
- Prenatal diagnosis for organic acid disorders using two mass spectrometric methods, gas chromatography mass spectrometry and tandem mass spectrometry
- A survey of Japanese patients with mitochondrial fatty acid β-oxidation and related disorders as detected from 1985 to 2000
- Rapid, simplified and sensitive method for screening fructose-1, 6-diphosphatase deficiency by analyzing urinary metabolites in urease/direct preparations and gas chromatography-mass spectrometry in the selected-ion monitoring mode
- Clinical and biochemical studies on Chinese patients with methylmalonic acidumia
- Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening
- Practical Assay Method of Cytosolic Acetoacetyl-CoA Thiolase by Rapid Release of Cytosolic Enzymes from Cultured Lymphocytes Using Digitonin
- Distal myopathy with rimmed vacuoles in a case of opercular syndrome
- Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene
- Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography : A practical confirmatory test for tandem mass spectrometry newborn screening in Japan
- Serial magnetic resonance angiography in cerebral infarction after varicella infection
- A Variant case of congenital bilateral perisylvian syndrome with asymmetric findings on neuroimaging and septum pellucidum defect
- A case of West syndrome well controlled by very short and low-does ACTH therapy
- Prenatal and postnatal evaluation of Dandy-Walker malformation : a case report
- Brain holding spells in early infancy
- Clinical study of partial epilepsies occurring before two years of life
- Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms
- Hyperkinetic movement disorder in a child treated by globus pallidus stimulation
- Surgical treatment of early-infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia
- Surgical Treatment of a Case of Early Infantile Epileptic Encephalopathy with Suppression-Bursts Associated with Focal Cortical Dysplasia
- Tremor and seizures associated with chronic manganese intoxication
- Trial of intraventricular ribavirin therapy for subacute sclerosing panencephalitis in Japan
- III B11 Infantile spasms treated by peri-insular hemispherotomy : a Case report
- Clinical and pidigree study on familial cases of West syndrome in Japan
- INTERSTITIAL DELETION OF THE SHORT ARM OF CHROMOSOME 10 : REPORT OF A CASE AND REVIEW OF THE LITERATURE
- Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type 2
- Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid α-glucosidase"
- 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
- 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
- Molecular genetic study in Japanese patients with Alexander disease : a novel mutation, R79L
- 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
- Paroxysmal discharges on EEG in young autistic patients are frequent in frontal regions
- Siblings of Schwartz-Jampel Syndrome with abnormal muscle computed tomographic findings
- 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
- Glucose metabolism evaluated by positron emission tomography in Lafora disease
- Distribution of transient receptor potential vanilloid 1(TRPV1)in the trigeminovascular system of the rat
- Infrarenal Abdominal Aortic Aneurysm Complicated by Persistent Endotension After Endovascular Repair : Report of a Case
- AMELIORATION OF PROLIDASE DEFICIENCY IN FIBROBLASTS USING ADENOVIRUS MEDIATED GENE TRANSFER
- A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P
- 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
- Biochemical and Immunocytochemical Properties of Peroxisomes and Mitochondria in Bovine Chromaffin Cells
- Prediction of the pathogenesis of the mutation in MeCP2 C-terminal domain
- Different neuroradiological findings during two stroke-like episodes in a patient with a congenital disorder of glycosylation type Ia
- III B9 Resective epilepsy surgery in children : comparison between younger and older age groups
- A study of ring 20 chromosome karyotype with epilepsy
- 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
- Hemifacial seizures due to ganglioglioma of cerebellum
- Brain perfusion SPECT and EEG findings in children with autism spectrum disorders and medically intractable epilepsy
- Auditory perception in auditory neuropathy : Clinical similarity with auditory verbal agnosia
- Developmental changes of distortion product and transient evoked otoacoustic emissions in different age groups
- Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome
- Augmented startle responses in opsoclonus-myoclonus syndrome
- Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination
- CD4^+ CD25^ regulatory T cell in childhood ocular myasthenia gravis
- Effects of low-dose hydrochlorothiazide on urolithiasis and bone metabolism in severely disabled individuals : A pilot study
- Acute autonomic sensory and motor neuropathy associated with parvovirus B19 infection
- X-linked adrenoleukodystrophy : Diagnostic and follow-up system in Japan
- SISCOM technique with a variable Z score improves detectability of focal cortical dysplasia : a comparative study with MRI