Fukuyama-type congenital muscular dystrophy (FCMD) and α-dystroglycanopathy
スポンサーリンク
概要
著者
-
SASAKI Junko
Department of Microbiology, Akita University School of Medicine
-
Terashima Toshio
Department of Internal Medicine, Fujita-Gakuen University School of Medicine
-
Terashima Toshio
名古屋記念病院
-
Terashima Toshio
Department Of Internal Medicine Nagoya Memorial Hospital:department Of Hospital Pharmacy School Of M
-
KOBAYASHI KAZUHIRO
Division of Urology, Department of Regenerative and Transplant Medicine, Graduate School of Medical
-
戸田 達史
大阪大学 大学院医学系研究科臨床遺伝学
-
戸田 達史
大阪大学 大学院 医学系研究科 ポストゲノム疾患解析学 講座 ゲノム機能分野
-
Endo Tamao
Glycobiology Research Group Tokyo Metropolitan Institute Of Gerontology
-
Sasaki J
Department Of Microbiology Akita University School Of Medicine
-
Sasaki Junko
Division Of Functional Genomics Department Of Post-genomics And Diseases Osaka University Graduate S
-
TODA Tatsushi
Division of Clinical Genetics, Osaka University Graduate School of Medicine
-
TACHIKAWA Masaji
Division of Functional Genomics, Department of Post-Genomics and Diseases, Osaka University Graduate
-
NAGAI Yoshitaka
Division of Functional Genomics, Department of Post-Genomics and Diseases, Osaka University Graduate
-
Nagai Yoshitaka
Division Of Functional Genomics Department Of Post-genomics And Diseases Osaka University Graduate S
-
TAKEDA Satoshi
Otsuka GEN Research Institute, Otsuka Pharmaceutical Co., Ltd.
-
KURAHASHI Hiroki
Division of Clinical Genetics, Department of Medical Genetics, Biomedical Research Center, Faculty o
-
Toda T
Division Of Clinical Genetics Department Of Medical Genetics Osaka University Graduate School Of Med
-
Taniguchi Mariko
Division Of Functional Genomics Department Of Post-genomics And Diseases Osaka University Graduate S
-
Wang Fan
Division Of Functional Genomics Department Of Post-genomics And Diseases Osaka University Graduate S
-
Taniguchi Kiyomi
Division of Functional Genomics, Department of Post-Genomics and Diseases, Osaka University Graduate
-
Sunada Yoshihide
Department of Neurology, Kawasaki Medical School
-
Matsumura Kiichiro
Department of Neurology, Teikyo University School of Medicine
-
Kurahashi H
Division Of Functional Genomics Department Of Post-genomics And Diseases Osaka University Graduate S
-
Kurahashi Hiroki
Division Of Clinical Genetics Department Of Medical Genetics Biomedical Research Center Faculty Of M
-
Sunada Yoshihide
Department Of Neurology Kawasaki Medical School
-
Toda Tatsushi
Division Of Clinical Genetics Department Of Medical Genetics Osaka University Graduate School Of Med
-
Terashima T
Department Of Anatomy And Neurobiology Kobe University Graduate School Of Medicine
-
Terashima Toshio
Department Of Anatomy Kobe University School Of Medicine
-
Tachikawa Masaji
Division Of Functional Genomics Department Of Post-genomics And Diseases Osaka University Graduate S
-
Nakabayashi Yuko
Division Of Functional Genomics Department Of Post-genomics And Diseases Osaka University Graduate S
-
Taniguchi Kiyomi
Division Of Functional Genomics Department Of Post-genomics And Diseases Osaka University Graduate S
-
Matsumura Kiichiro
Department Of Neurology Shimoshizu National Hospital
-
Takeda S
Otsuka Gen Research Institute Otsuka Pharmaceutical Co. Ltd.
-
Takeda Satoshi
Otsuka Gen Research Institute Otsuka Pharmaceutical Co. Ltd.
-
Kobayashi Kazuhiro
Division Of Urology Department Of Regenerative And Transplant Medicine Niigata University Graduate S
-
Kobayashi Kazuhiro
Division Of Clinical Genetics Department Of Medical Genetics Osaka University Graduate School Of Med
-
Kobayashi Kazuhiro
Osaka Univ. Graduate School Of Medicine Osaka Jpn
-
TERASHIMA Toshio
Department of Anatomy and Developmental Neurobiology, Kobe University Graduate School of Medicine
-
MATSUMURA Kiichro
Department of Neurology, Teikyo University School of Medicine
-
MATSUMURA Kiichiro
Department of Neurology and Neuroscience, Teikyo University School of Medicine
関連論文
- The Physiology of Phosphoinositides(Metabolism and Functions of Phosphoinositides)
- 福山型筋ジストロフィーの発見とその類縁疾患における病態
- 福山型と遺伝学的に異なる先天性筋ジストロフィーの免疫組織化学的検討
- Sex difference in the liver of hepatocyte-specific Pten-deficient mice : A model of nonalcoholic steatohepatitis
- ASSESSMENT OF VENTRICULAR EXCITATION AND CONTRACTION SEQUENCE BY THE USE OF BODY SURFACE POTENTIAL MAPPING AND PHASE IMAGES IN RADIONUCLIDE VENTRICULOGRAPHY : Arrhythmias (II), Electrophysiology (II), Mapping : III : 48 Annual Scientific Meeting, Japanese
- BODY SURFACE ISOPOTENTIAL MAPS (MAPS) IN PATIENTS WITH ACUTE RIGHT VENTRICULAR MYOCARDIAL INFARCTION : PROCEEDINGS OF THE 47th ANNUAL SCIENTIFIC MEETING OF THE JAPANESE CIRCULATION SOCIETY : Vectorcardiography Mapping
- STUDY ON SEPTAL Q WAVES IN EXERCISE BODY SURFACE POTENTIAL MAPS: ANGIOGRAPHIC CORRELATION : PROCEEDINGS OF THE 47th ANNUAL SCIENTIFIC MEETING OF THE JAPANESE CIRCULATION SOCIETY : Exercise Test
- BODY SURFACE QRS POTENTIAL MAPS DURING CORONARY ARTERIOGRAPHY : Mapping : 46th Annual Scientific Meeting, Japanese Circulation Society
- BODY SURFACE ST POTENTIAL DISTRIBUTIONS AFTER EXERCISE IN PATIENTS WITH ANGINA PECTORIS : COMPARISON WITH MYOCARDIAL STRESS PERFUSION SCINTIGRAPHY AND CORONARY ANGIOGRAPHY : Mapping : FREE COMMUNICATIONS (Abstract) : 45 Annual Scientific Meeting, Japanese
- 孤発性パーキンソン病のゲノムワイドスクリーニング (特集 神経変性疾患とゲノム)
- 神経疾患とゲノム (臨床遺伝子学'07--ゲノム科学の臨床へのインパクト) -- (多因子病のゲノム研究は今)
- パーキンソン病の分子遺伝学 (特集 パーキンソン病の分子遺伝学--最近の知見)
- BODY SURFACE ST POTENTIAL DISTRIBUTIONS AFTER EXERCISE IN PATIENTS WITH ANGINA PECTORIS : COMPARISON WITH MYOCARDIAL STRESS PERFUSION SCINTIGRAPHY AND CORONARY ANGIOGRAPHY : Mapping : FREE COMMUNICATIONS (Abstract) : 45 Annual Scientific Meeting, Japanese
- ASSESSMENT OF VENTRICULAR EXCITATION AND CONTRACTION SEQUENCE BY THE USE OF BODY SURFACE POTENTIAL MAPPING AND PHASE IMAGES IN RADIONUCLIDE VENTRICULOGRAPHY : Arrhythmias (II), Electrophysiology (II), Mapping : III : 48 Annual Scientific Meeting, Japanese
- BODY SURFACE ST POTENTIAL DISTRIBUTIONS AFTER EXERCISE IN PATIENTS WITH ANGINA PECTORIS : COMPARISON WITH MYOCARDIAL STRESS PERFUSION SCINTIGRAPHY AND CORONARY ANGIOGRAPHY : Mapping : FREE COMMUNICATIONS (Abstract) : 45 Annual Scientific Meeting, Japanese
- O2-59 福山型先天性筋ジストロフィーにみられるてんかんの治療及び遺伝子変異と発作の関連(遺伝・生理,一般演題(口演),第40回 日本てんかん学会)
- Assessment of Clinical Application of Test-Dose Concept for Theophylline in Patients with Respiratory Failure
- VARIANCES IN PHARMACOKINETIC PARAMETERS DUE TO ASSAY METHODS FOR β-METHYLDIGOXIN
- THE ROLE OF SYMPATHETIC ACTIVITY IN HYPERTENSIVE MECHANISM OF BRADYKININ : Hypertension : PROCEEDINGS OF THE 44th ANNUAL SCIENTIFIC MEETING OF THE JAPANESE CIRCULATION SOCIETY
- A PROTECTIVE EFFECT OF VERAPAMIL AND INTRACELLULAR CALCIUM IN HYPOXIC HEART MUSCLE : Cardiovascular Drugs : IV Auditorium : PROCEEDINGS OF THE 44th ANNUAL SCIENTIFIC MEETING OF THE JAPANESE CIRCULATION SOCIETY
- EFFECT OF THYROID HORMONE ON MYOCARDIAL CONTRACTILITY AND SUBCELLULAR DISTRIBUTION OF CALCIUM IN RABBITS : Myocardial metabolism . Biochemistry : 46th Annual Scientific Meeting, Japanese Circulation Society
- RELATIONSHIP BETWEEN PLASMA PROLACTIN CONCENTRATION AND SYMPATHETIC ACTIVITY IN MALES WITH BORDERLINE HYPERTENSION, AND THE ROLE OF PROLACTIN IN CARDIOVASCULAR SYSTEM : Kidney・Hypertension : FREE COMMUNICATIONS (Abstract) : 45 Annual Scientific Meeting, J
- Obstruction of the ileal ureter by mesenteric vessels occurring 5 years after total ureteral substitution for bilateral ureteral stenosis due to systemic lupus erythematosus
- Gasless Laparoscopy-Assisted Live Donor Nephrectomy(1)(Endoscopic Live Donor Nephrectomy)
- LRRK2 P755L variant in sporadic Parkinson's disease
- Physical map and haplotype analysis of 16q-linked autosomal dominant cerebellar ataxia (ADCA) type III in Japan
- Identification of CAG repeat-containing genes expressed in human brain as candidate genes for autosomal dominant spinocerebellar ataxias and other neurodegenerative diseases
- ANALYSIS OF ABNORMALITY OF CORTICOHISTOGENESIS IN THE REELER MUTANT MICE BY PRODUCING CHIMERA MICE : ABSENCE OF ABNORMALITY IN NEURONS IN THE REELER (Contribution of Histochemistry to Developmental Neurobiology)
- 福山型遺伝子フクチン同定のヒント, 幸運とそれから
- Alteration of methamphetamine-induced striatal dopamine release in mint-1 knockout mice
- Retrograde labeling of mouse spinal descending tracts by a recombinant adenovirus
- Mutation analysis of Japanese patient with fucosidosis
- Spermatogenic ability is different among males in different Y chromosome lineage
- Genetic variations on the Y chromosome in the Japanese population and implications for modern human Y chromosome lineage
- パーキンソン病におけるオーダーメイド医療をめざして (特集 オーダーメイド医療--臨床応用への着実なアプローチ)
- Hepatic gene expression in hepatocyte-specific Pten deficient mice showing steatohepatitis without ethanol challenge
- Glycosylation in Congenital Muscular Dystrophies
- Low Grade Amplification of MDM2 Gene in a Subset of Human Breast Cancers without p53 Alterations
- Decreased frequency of seizures in infantile spasms associated with lissencephaly by human herpes virus 7 infection
- Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence
- Isolated Iissencephaly sequence with balanced chromosome translocation involving 17p13.3
- 神経疾患と遺伝素因 (特集 ポストゲノム時代の医療) -- (ゲノム解析からの病態解明)
- Novel polymorphisms in the βig-h3 gene
- Fukuyama-type congenital muscular dystrophy (FCMD) and α-dystroglycanopathy
- Phosphoinositide 3-Kinases in Immunity:Lessons from Knockout Mice
- Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia
- AN EcoRI RFLP IN HUMAN APC GENE
- DUAL-COLOR FISH ANALYSIS OF BREAKPOINTS ON ROBERTSONIAN TRANSLOCATIONS
- Alzheimer病と遺伝 (特集 生活習慣病は遺伝するか?--家族性生活習慣病?)
- 福山型筋ジストロフィー (特集 筋疾患の病態と診断,治療戦略の最前線) -- (病態と診断)
- αジストログリカノパチー(福山, MEB, etc) : 糖鎖異常と筋ジストロフィー
- Overview 新たな時代にいかにして多因子疾患に迫るか (特集 多因子疾患への多面的アプローチ)
- 福山型先天性筋ジストロフィーとαジストログリカノパチー (神経糖鎖生物学) -- (糖鎖と神経・筋疾患,病態モデル)
- BIO REVIEW 神経変性疾患ポリグルタミン病に対する治療ペプチドQBP1
- 糖鎖と筋ジストロフィー (特集 糖鎖の新たな機能と疾患へのかかわり) -- (REVIEW2:疾患と糖鎖)
- Walker-Warburg症候群と糖鎖修飾酵素異常 (ミオパチーの治療戦略)
- フクチン,フクチン関連蛋白異常による先天性筋ジストロフィー--福山型と関連疾患 (ミオパチーの治療戦略)
- 筋ジストロフィーの分子遺伝学 (特集 精神・神経疾患とゲノム)
- 多因子性神経疾患 (〔2002年〕9月第1土曜特集 多因子疾患--遺伝要因の解明と現状) -- (臨床疾患へのアプローチ)
- NEWS&TOPICS 筋ジストロフィー,神経細胞移動障害に糖鎖が関与する--muscle-eye-brain病原因遺伝子の解明
- Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome
- Anterograde Amnesia Associated With Infarction of the Anterior Fornix and Genu of the Corpus Callosum
- The genetic and molecular basis of muscular dystrophy : roles of cell-matrix linkage in the pathogenesis
- Rapid Screening for Japanese Dysferlinopathy by Fluorescent Primer Extension
- Atelocollagen-mediated systemic administration of myostatin-targeting siRNA improves muscular atrophy in caveolin-3-deficient mice
- Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2
- Anterograde labeling of the corticospinal tract in jimpy mutant mice by DiI injection into the motor cortex
- Callosal commissural neurons of Dab1 deficient mutant mouse, yotari
- Techniques for the Neurological Examination of Taxane-Induced Neuropathy
- A NOVEL (CA)_n POLYMORPHISM ON 6p21.1-21.2
- Mammalian Type III Phosphatidylinositol Phosphate Kinase is Dispensable for Cell Growth and Survival
- N-Acetylcysteine Improves Steatohepatitis in Mice by Reducing Reactive Oxygen Species
- 話題 神経内科学 Santavuori病原因遺伝子の解明--糖鎖が筋ジストロフィー,神経細胞移動障害に関与
- ポストゲノム時代の神経科学
- 神経性ならびに特殊疾患 先天性筋ジストロフィー--とくに福山型の遺伝子診断 (〔2001年〕6月第5土曜特集 予防医学のミレニアム--遺伝子診断の動向とそれに伴う問題点) -- (ミレニアム医学の構築)
- 福山型先天性筋ジストロフィー
- 単一遺伝子病 (特集 ゲノム時代の遺伝医学)
- The Functional Staging of Duchenne Muscular Dystrophy Using in Vivo 31P MR Spectroscopy
- Human genetic deficits in glycan formation
- Genetic and clinical analysis in a Chinese parkinsonism-predominant spinocerebellar ataxia type 2 family
- A monoclonal antibody against a synthetic polypeptide fragment of dystrophin (amino acid sequence from position 215 to 264).
- Screening of genes involved in chromosome segregation during meiosis I : toward the identification of genes responsible for infertility in humans
- Recent advance in our understanding of the molecular nature of chromosomal abnormalities
- Taurine Ameliorates Impaired the Mitochondrial Function and Prevents Stroke-like Episodes in Patients with MELAS
- Screening of genes involved in chromosome segregation during meiosis I : in vitro gene transfer to mouse fetal oocytes
- Current Topics "New Era of Glycoscience: Intrinsic and Extrinsic Functions Performed by Glycans"—Foreword
- Immunohistochemical Localization of Major Gangliosides in Rat Cerebellum.
- Association of dystroglycan and laminin-2 coexpression with myelinogenesis in peripheral nerves
- A case of acute impaired consciousness with high fever Postgraduate Clinical Training Center
- Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB : application of simulation analysis