Regional features of autosomal-dominant cerebellar ataxia in Nagano : clinical and molecular genetic analysis of 86 families

スポンサーリンク

概要

• 論文の詳細を見る
• Springer-Verlag Tokyoの論文
• 2004-11-01

著者

• IKEDA Shu-ichi

  Third Department of Medicine, Shinshu University School of Medicine

• HASHIMOTO Takao

  Third Department of Medicine, Shinshu University School of Medicine

• YOSHIDA Kunihiro

  Division of Clinical and Molecular Genetics, Shinshu University Hospital

• FUKUSHIMA Yoshimitsu

  Division of Clinical and Molecular Genetics, Shinshu University Hospital

• OKANO Tomomi

  Third Department of Medicine, Shinshu University School of Medicine

• OHARA Shinji

  Department of Brain Pathophysiology, Kyoto University Graduate School of Medicine

• Fukushima Y

  Department Of Preventive Medicine Shinshu University School Of Medicine

• Okano Tomomi

  Third Department Of Medicine Shinshu University School Of Medicine

• Ohara Shinji

  Department Of Neurology Chushin Matsumoto Hospital

• Shimizu Yusaku

  Third Department Of Medicine Shinshu University School Of Medicine

• Ikeda Shu-ichi

  Department Of Neurology Shinshu University Hospital

• Ikeda Shu-ichi

  Third Department Of Medicine Shinshu University School Of Medicine

• SHIMIZU Yusaku

  Department of Neurology, Ina Central Hospital

• Fukushima Yoshimitsu

  Division Of Clinical And Molecular Genetics Shinsyu University Hospital

• Yoshida Kunihiro

  Department Of Neurology Shinshu University Hospital

• Yoshida Kunihiro

  Division Of Clinical And Molecular Genetics Shinshu University Hospital

• Yoshida Kunihiro

  Department Of Medicine (neurology) Shinshu University School Of Medicine

• Hashimoto Takao

  Third Department Of Internal Medicine Shinshu University School Of Medicine

• Fukushima Y

  Shinshu Univ. School Of Medicine Matsumoto Jpn

• Fukushima Yoshimitsu

  Division Of Clinical And Molecular Genetics Department Of Preventive Medicine Shinshu University Sch

• Ikeda Shu-ichi

  Third Department Of Medicine (neurology And Rheumatology) Shinshu University School Of Medicine

• Shimizu Yusaku

  Department Of Neurology Ina Central Hospital

関連論文

• Serum Levels of Free Light Chain before and after Chemotherapy in Primary Systemic AL Amyloidosis
• Choroidal Vascular Lesions Identified by ICG Angiography in a Case of Familial Amyloidotic Polyneuropathy
• The IHPK1 gene is disrupted at the 3p21. 31 breakpoint of t(3 ; 9) in a family with type 2 diabetes mellitus
• A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet
• Guidelines for genetic testing
• Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier
• Risk of Worsened Encephalopathy after Intravenous Glycerol Therapy in Patients with Adult-onset Type II Citrullinemia (CTLN2)
• Hepatocellular Carcinoma in a Case of Adult-onset Type II Citrullinemia
• Familial 14-Mb deletion at 21q11.2-q21.3 and variable phenotypic expression
• Myasthenia Gravis with Anti-MuSK Antibody, Showing Progressive Muscular Atrophy without Blepharoptosis
• Reactive Arthritis Due to Asymptomatic Infection of Chlamydia trachomatis
• The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
• Ten Years of Experience with Liver Transplantation for Familial Amyloid Polyneuropathy in Japan : Outcomes of Living Donor Liver Transplantations
• Recurrent Cerebral Embolism in a Familial Amyloid Polyneuropathy Patient Who Received Partial Liver Transplantation from a Living Donor
• Increase in Incidence of Elderly-onset Patients with Myasthenia Gravis in Nagano Prefecture, Japan
• High-dose Melphalan Followed by Autologous Stem Cell Support in Primary Systemic AL Amyloidosis with Multiple Organ Involvement
• Serum Amyloid A as a Potent Therapeutic Marker in a Refractory Patient with Polymyalgia Rheumatica
• Intractable Skin Necrosis and Interstitial Pneumonia in Amyopathic Dermatomyositis, Successfully Treated with Cyclosporin A
• Hemolysis, Elevated Liver Enzymes and Low Platelet (HELLP) Syndrome Associated with Systemic Lupus Erythematosus
• Fasciitis in Mixed Connective Tissue Disease Successfully Treated with High-dose Intravenous Immunoglobulin
• Fatal Acute Pancreatitis with Cystic Formation in Reactive Systemic AA Amyloidosis Secondary to Rheumatoid Arthritis
• Abdominal Fat Aspiration Biopsy and Genotyping of Serum Amyloid A Contribute to Early Diagnosis of Reactive AA Amyloidosis Secondary to Rheumatoid Arthritis
• Malignant Lymphoma Associated with Rheumatoid Arthritis, Developing Shortly after Initiation of Oral Methotrexate
• Senile Systemic Amyloidosis Starting as Bilateral Carpal and Left Ulnar Tunnel Syndrome
• X-linked Dilated Cardiomyopathy with a Large Hot-spot Deletion in the Dystrophin Gene
• Huntington's disease with onset ages greater than 60 years
• Primary Cardiac Malignant Fibrous Histiocytoma in the Right Ventricular Infundibulum Treated With a Cavo-Pulmonary Shunt and Coronary Embolization
• Less Frequent NSD1-Intragenic Deletions in Japanese Sotos Syndrome: Analysis of 30 Patients by NSD1-Exon Array CGH, Quantitative Fluorescent Duplex PCR, and Fluorescence In Situ Hybridization
• A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano
• Risk Factors for Hospital-acquired Bacteremia
• Long-term Follow-up of Patients with Multiple Endocrine Neoplasia Type 1
• Use of Cavernous Sinus EEG in the Detection of Seizure Onset and Spread in Mesial Temporal Lobe Epilepsy
• Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1
• Unilateral Oculomotor Nerve Palsy Induced by Combination Therapy of Interferon-α2b and Ribavirin
• Tacrolimus Related Brady and Tachyarrhythmias in a Familial Amyloid Polyneuropathy Patient who Underwent Partial Liver Transplantation
• Tacrolimus Related Brady and Tachyarrhythmias in a Familial Amyloid Polyneuropathy Patient who Underwent Partial Liver Transplantation
• Nationwide survey on predictive genetic testing for late-onset, incurable neurological diseases in Japan
• Regional features of autosomal-dominant cerebellar ataxia in Nagano : clinical and molecular genetic analysis of 86 families
• Harmonic Mixing with SRS Tunnel Junctions in the Millimeter and Submillimeter Regions
• Experiments on a Point-Contact Josephson Mixer at 469 μm
• Effects of Magnetic Field on the Josephson Noise from an SIS Mixer
• Genetic Aspects of the Vascular Type of Ehlers-Danlos Syndrome (vEDS, EDSIV) in Japan
• An 80-year-old Mitochondrial Disease Patient with A3243G tRNA^ Gene Presenting Cardiac Dysfunction as the Main Symptom
• Extensive loss of arterial medial smooth muscle cells and mural extracellular matrix in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)
• Aceruloplasminemia with Juvenile-onset Diabetes Mellitus Caused by Exon Skipping in the Ceruloplasmin Gene
• Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis : Identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies
• Emotional Stress-Induced 'Ampulla Cardiomyopathy' : Discrepancy Between the Metabolic and Sympathetic Innervation Imaging Performed During the Recovery Course
• Cerebral arterial pathology of CADASIL and CARASIL (Maeda syndrome)
• Characteristic Spinal MRI Findings of HIV-associated Myelopathy in an AIDS Patient
• Fasciitis in Mixed Connective Tissue Disease Successfully Treated with High-dose Intravenous Immunoglobulin
• Paraneoplastic Neurologic Syndrome Associated with Small Breast Cancer : Diagnostic Value of FDG-PET for Detection of Underlying Malignancy
• ATTENTION CHARACTERISTICS OF PEAK AMPLITUDE IN THE HYOGOKEN-NAMBU EARTHQUAKE
• Osmotic Demyelination Syndrome : Reversible MRI Findings in Bilateral Cortical Lesions
• A Japanese case of SCA14 with the Gly128Asp mutation
• A novel balanced chromosomal translocation found in subjects with schizophrenia and schizotypal personality disorder : Altered L-serine level associated with disruption of PSAT1 gene expression
• A Japanese Case of Familial Mediterranean Fever with Homozygosity for the Pyrin E148Q Mutation
• A Japanese Patient with Familial Mediterranean Fever Associated with Compound Heterozygosity for Pyrin Variant E148Q/M694I
• Aceruloplasminemia with Juvenile-onset Diabetes Mellitus Caused by Exon Skipping in the Ceruloplasmin Gene
• Fatal Acute Pancreatitis with Cystic Formation in Reactive Systemic AA Amyloidosis Secondary to Rheumatoid Arthritis
• Comprehensive genetics clinic for familial tumors : proposal for a suitable system in Japan
• Cardiac Amyloidosis : Heterogenous Pathogenic Backgrounds
• Pneumatosis cystoides intestinalis in neuropsychiatric systemic lupus erythematosus with diabetes mellitus : case report and literature review
• A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2)
• Cerebral hemorrhage in Fabry's disease
• Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene
• X-linked Dilated Cardiomyopathy with a Large Hot-spot Deletion in the Dystrophin Gene
• Surgery of Angiomas in the Brainstem With a Stress on the Presence of Telangiectasia
• Facial Angiofibroma as an Initial Manifestation in Multiple Endocrine Neoplasia Type 1
• Laryngo-Tracheo-Bronchial Amyloidosis Presenting Severe Airway Stenosis

もっと見る 閉じる

スポンサーリンク