Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease
スポンサーリンク
概要
- 論文の詳細を見る
- Springer-Verlag Tokyoの論文
- 2004-07-01
著者
-
Tanaka Tomohiro
Department Of Applied Biological Chemistry Graduate School Of Agricultural And Life Sciences The Uni
-
Tanaka Tomohiro
Department Of Agricultural And Biological Chemistry College Of Bioresource Sciences Nihon University
-
Tanaka Tomohiro
山形大学 医学部小児科学
-
SAWAISHI Yukio
Department of Pediatrics, Akita University School of Medicine
-
SHIRAHATA EMI
Department of Pediatrics, Yamagata University School of Medicine
-
HAYASAKA KIYOSHI
Department of Pediatrics, Yamagata University School of Medicine
-
SHIMOHATA Mitsuteru
Department of Neurology, Brain Research Institute, Niigata University
-
Hayasaka K
Department Of Pediatrics Yamagata University School Of Medicine
-
Hayasaka Kiyoshi
Departments Of Pediatrics Yamagata University School Of Medicine
-
Hayasaka Kiyoshi
Department Of Pediatrics Yamagata University Faculty Of Medicine
-
IGARASHI Shuichi
Department of Neurology, Brain Research Institute, Niigata University
-
KIJIMA KAZUKI
Department of Pediatrics, Yamagata University School of Medicine
-
NUMAKURA CHIKAHIKO
Department of Pediatrics, Yamagata University School of Medicine
-
Kijima Kazuki
Department Of Pediatrics Yamagata University School Of Medicine
-
Sawaishi Yukio
Department Of Pediatrics Akita University School Of Medicine
-
Shirahata Emi
Department Of Pediatrics Yamagata University School Of Medicine
-
Shirahata Emi
Department Of Pediatrics Yamagata City Hospital Saiseikan
-
Numakura C
Department Of Pediatrics Yamagata University School Of Medicine
-
Numakura Chikahiko
Department Of Pediatrics Yamagata University School Of Medicine
-
Igarashi Shuichi
Department Of Neurology Brain Research Institute Niigata University
-
Shimohata Mitsuteru
Department Of Neurology Brain Research Institute Niigata University
-
Tanaka Tomohiro
Department Of Neurology Toyooka Hospital
関連論文
- Seasonal Change in Vertical Distribution of Ammonia-Oxidizing Archaea and Bacteria and Their Nitrification in Temperate Forest Soil
- Cytosolic glutamine synthetase is present in the phloem sap of rice (Oryza sativa L.)(Plant Nutrition)
- Review of Alexander disease : Beyond the classical concept of leukodystrophy
- Abnormal white matter lesions with sensorineural hearing loss caused by congenital cytomegalovirus infection : retrospective diagnosis by PCR using Guthrie cards
- Reflective Characteristics of Micro-Groove on Thin Film Prepared by Ruling Engine (情報ディスプレイ--The 6th Asian Symposium on Information Display & Exhibition)
- Reflective Characteristics of Micro-Groove on Thin Film Prepared by Ruling Engine
- Genetic Analysis of Shwachman-Diamond Syndrome : Phenotypic Heterogeneity in Patients Carrying Identical SBDS Mutations
- Characteristics of newly isolated ammonia-oxidizing bacteria from acid sulfate soil and the rhizoplane of leucaena grown in that soil(Soil Biology)
- Polyglutamine disease : Recent advances in the neuropathology of dentatorubral-pallidoluysian atrophy
- Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese
- Trial of intraventricular ribavirin therapy for subacute sclerosing panencephalitis in Japan
- Machado-Joseph disease gene products carrying different carboxyl termini
- Case of Orbital Sebaceous Carcinoma Developing Twenty-Seven Years After Enucleation
- Succession and community composition of ammonia-oxidizing archaea and bacteria in bulk soil of a Japanese paddy field(Soil Biology)
- Analysis of Ammonia Monooxygenase and Archaeal 16S rRNA Gene Fragments in Nitrifying Acid-Sulfate Soil Microcosms
- Characteristics of a High-Concentration-Ammonium Sulfate-Requiring Ammonia-Oxidizing Bacterium Isolated from Deodorization Plants of Chicken Farms
- Human CD4^+ central and effector memory T cells produce IL-21 : effect on cytokine-driven proliferation of CD4^+ T cell subsets
- Immunoliposome-Mediated Gene Transfer into Cultured Myotubes
- Mutation analysis of phenylketonuria in Yamagata prefecture, Japan
- De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome : unequal sister chromatid exchange during paternal gametogenesis
- Neonatal hyperbilirubinemia and the bilirubin uridine diphosphate-glucuronosyltransferase gene : The common -3263T > G mutation of phenobarbital response enhancer module is not associated with the neonatal hyperbilirubinemia in Japanese
- Congenital Central Hypoventilation Syndrome : A Novel Mutation of the RET Gene in an Isolated Case
- Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease
- Prader-Willi syndrome in a child with XYY
- Mild immunoglobulin A nephropathy in a patient with a marked increase in serum immunoglobulin A
- Successful Unrelated Donor Bone Marrow Transplantation for Shwachman-Diamond Syndrome with Leukemia
- CD48 expression on leukocytes in infectious diseases: Flow cytometric analysis of surface antigen
- A Case of Moyamoya-like Vessels Combined with Brain Anomaly
- Polymorphisms of Heme Oxygenase-1 and Bilirubin UDP-Glucuronosyltransferase Genes are not Associated with Kawasaki Disease Susceptibility
- A new form of total anomalous pulmonary venous connection with double drainage
- Enzyme Therapy in Gaucher Disease Type 2 : An Autopsy Case
- Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease
- Sudden Infant Death Syndrome Is Not Associated with the Mutation of PHOX2B Gene, a Major Causative Gene of Congenital Central Hypoventilation Syndrome
- Deletion and Nonsense Mutations of the Connexin 32 Gene Associated with Charcot-Marie-Tooth Disease
- Acute cerebellar ataxia and consecutive cerebellitis produced by glutamate receptor δ2 autoantibody
- A case of acute cerebellitis accompanied by autoantibodies against glutamate receptor δ2
- II D11 Diffusion tensor MR imaging of cerebral axonal tracts in patients with cortical malformations
- Distribution of Cold-Adapted Ammonia-Oxidizing Microorganisms in the Deep-Ocean of the Northeastern Japan Sea
- PA-16 Distribution and diversity of ammonia-oxidizing bacteria and archaea in deep-ocean of Okushiri in the northeastern Japan Sea(Aquatic ecosystem,Poster presentation A)
- Improvement of nephrotic syndrome by intensive lipid-lowering therapy in a patient with lipoprotein glomerulopathy
- Nitrosomonas communis Strain YNSRA, an Ammonia-Oxidizing Bacterium, Isolated from the Reed Rhizoplane in an Aquaponics Plant(ENVIRONMENTAL BIOTECHNOLOGY)
- Beraprost sodium for pulmonary hypertension with congenital heart disease
- Management of Functional Pulmonary Atresia with Isoproterenol in a Neonate with Ebstein's Anomaly
- Microangiopathic Hemolytic Anemia and Thrombocytopenia in a Child with Atrial Septal Defect and Pulmonary Hypertension
- Effect of Root Exudates on Growth of Newly Isolated Nitrifying Bacteria from Barley Rhizoplane (Soil Biology)
- Characteristics of Newly Isolated Nitrifying Bacteria from Rhizoplane of Paddy Rice
- Seasonal Changes in Abundance of Ammonia-Oxidizing Archaea and Ammonia-Oxidizing Bacteria and Their Nitrification in Sand of an Eelgrass Zone
- Classification of chemoautotrophic ammonia-oxidizing bacteria using pyruvate kinase genes as high resolution phylogenetic markers(Soil Chemistry and Mineralogy)
- Improvement of Preservation Method for Ammonia-Oxidizing Bacteria by Freeze-Drying(Soil Biology)
- Two Kinds of Ammonia-Oxidizing Bacteria Isolated from Biologically Deodorizing Plants in Cold District(ENVIRONMENTAL BIOTECHNOLOGY)
- Characteristics of an Ammonia-Oxidizing Bacterium with a Plasmid Isolated from Alkaline Soils and Its Phylogenetic Relationship
- Ribulose-1, 5-Bisphosphate Carboxylase/Oxygenase from an Ammonia-Oxidizing Bacterium, Nitrosomonas sp. K1 : purification and Properties
- Newly Isolated Marine Ammonia-Oxidizing Bacterium, Nitrosomonas sp. TNO632
- Purification and Comparison of Phosphoglycerate Kinases from Nitrifying Bacteria
- Three patients with different phenotypes in a family with chromosome 22q11.2 deletions
- Phylogenetic Relationships among Ammonia-Oxidizing Bacteria as Revealed by Gene Sequences of Glyceraldehyde 3-Phosphate Dehydrogenase and Phosphoglycerate Kinase(Microbial Physiology and Biotechnology)
- Identification of Genus Nitrosovibrio, Ammonia-Oxidizing Bacteria, by Comparison of N-Terminal Amino Acid Sequences of Phosphoglycerate Kinase(MICROBIAL PHYSIOLOGY AND BIOTECHNOLOGY)
- Nationwide survey (incidence, clinical course, prognosis) of Rasmussen's encephalitis
- Enrichment of a Novel Marine Ammonia-Oxidizing Archaeon Obtained from Sand of an Eelgrass Zone
- A Hippocampal Lesion Detected by High-Field 3 Tesla Magnetic Resonance Imaging in a Patient with Temporal Lobe Epilepsy
- II D14 Detection of a small hippocampal lesion by 3 tesla MRI in a patient with 1.5 tesla MRI-negative temporal lobe epilepsy
- Lidocaine-dependent Early Infantile Status Epilepticus with Highly Suppressed EEG
- A Case of Glycogen Storage Disease Type III (Glycogen Debranching Enzyme Deficiency) with Liver Cirrhosis and Hypertrophic Cardiomyopathy
- A case of progressive familial intrahepatic cholestasis type 1 with compound heterozygous mutations of ATP8B1
- Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome
- Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan
- An Elderly Japanese Patient with Adult-onset Type II Citrullinemia with a Novel D493G Mutation in the SLC25A13 Gene
- Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease : nonsense mutation probably causes a recessive phenotype
- Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome : rs17884724:A>C is associated with 7-alanine expansion
- Phenotypic variability in a family with Townes-Brocks syndrome
- The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy
- Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1
- A case of congenital axonal neuropathy associated with West syndrome
- Overexpression of Leptin Reduces the Ratio of Glycolytic to Oxidative Enzymatic Activities without Changing Muscle Fiber Types in Mouse Skeletal Muscle
- Association of vitamin D-related gene polymorphisms with manifestation of vitamin D deficiency in children
- Association of breast-fed neonatal hyperbilirubinemia with UGT1A1 polymorphisms : 211G>A (G71R) mutation becomes a risk factor under inadequate feeding
- A founder haplotype of APOE-Sendai mutation associated with lipoprotein glomerulopathy
- Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan