Bibliography of congenital muscular dystrophies : Series V (2001)
スポンサーリンク
概要
- 論文の詳細を見る
- 2003-03-01
著者
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Fukuyama Yukio
Child Neurological Institute
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SAITO Kayoko
Department of Pediatrics, Tokyo Women's Medical University
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Saito Kayoko
Department Of Pediatrics Tokyo Women's Medical University
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Saito Kayoko
Department Of Neuropsychiatry School Of Medicine Hirosaki University
関連論文
- A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions
- Mutations of Neuronal Voltage-gated Na^+ Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB)
- Mutation screening of AP3M2 in Japanese epilepsy patients
- Genetics of Idiopathic Epilepsies
- The genetics of febrile seizures and related epilepsy syndromes
- IV D6 How SCN1A mutations contribute to Dravet syndrome : a comparison of clinical and EEG features between Dravet syndrome with and without SCN1A mutations
- Genetics of epilepsy : current status and perspectives
- Molecular Genetics of Human Familial Epilepsy Syndromes
- Genetic abnormalities underlying familial epilepsy syndromes
- Electroclinical Picture of Autosomal Dominant Nocturnal Frontal Lobe Epilepsy in a Japanese Family
- IV D7 Reciprocal release profile between hippocampal monoamines and acetylcholine releases in a novel spontaneous epilepsy model, mu3B deficient mice
- NS-5 Behavioral and electroencephalographical analysis of epileptogenesis in μ3B knockout mouse
- NS-4 Epileptic seizure in mice deficient in μ3B subunit of AP-3B complex
- Rasmussen Syndrome : Multifocal Spread of Inflammation Suggested from MRI and PET Findings
- Co-localization of β-peptide and phosphorylated tau in astrocytes in a patient with corticobasal degeneration
- Myoclonic-astatic epilepsy of early childhood - clinical and EEG analysis of myoclonic-astatic seizures, and discussions on the nosology of the syndrome
- Severe myoclonic epilepsy in infants - a review based on the Tokyo Women's Medical University series of 84 cases
- Surgical Indication for Refractory Childhood Epilepsy
- Clinicopathological study on eyes from cases of Fukuyama type congenital muscular dystrophy
- Hyperactivity of Endoplasmic Reticulum Associated Exocytosis Mechanism Contributes to Acute Phencyclidine Intoxication
- IV F3 Effects of carbamazepine on cAMP-dependent protein kinase related exocytosis
- II F16 A case of familial paroxysmal hypnogenic dyskinesia and sick sinus syndrome with severe abnormality of potassium-conductance in peripheral nerve
- II C22 Two-dimensional monitoring of effects of carbamazepine on propagation of neuronal excitability using multiple-electrode dish with high-speed fluorescence CCD system.
- Impaired M-Current and Neuronal Excitability
- Genetic Identifiers of Epilepsy
- Different patterns of dipole source localization in gelastic seizure with or without a sense of mirth
- Sociomedical aspects of epileptic patients : Their employment and marital status
- Prognosis and clinical features of intractable epilepsy : A prospective study
- Clinical and pidigree study on familial cases of West syndrome in Japan
- Study on surgical treatment of intractable childhood epilepsy
- Pial-glial barrier abnormalities in fetuses with Fukuyama congenital muscular dystrophy
- Fukuyama congenital muscular dystrophy: Cortical dysplasia of the cerebrum in a 20 week fetus
- Thalamic lesions in a long-surviving child with spinal muscular atrophy type I : MRI and EEG findings
- A 1-year-old infant with McArdle disease associated with hyper-creatine kinase-emia during febrile episodes
- Creatine monohydrate therapy in a Leigh syndrome patient with A8344G mutation
- Beta-Blocker Therapy for Cardiac Dysfunction in Patients With Muscular Dystrophy
- Polymorphism analysis of Fukuyama type congenital muscular dystrophy(FCMD) siblings with different phenotypes
- Bibliography of congenital muscular dystrophies : Series V (2001)
- History of clinical identification of West syndrome - in quest after the classic
- Clinical analysis of West syndrome associated with phenylketonuria
- Introduction to Pies and Beardsmore's article
- Thank you for everything-Preface and remarks
- Benign Familial Infantile Convulsions : Linkage to Chromosome 16p12-q12 in 14 Families
- Positive association between benign familial infantile convulsions and LGI4
- Fukutin expression in mouse non-muscle somatic organs : its relationship to the hypoglycosylation of α-dystroglycan in Fukuyama-type congenital muscular dystrophy
- Preface
- Proceedings of the Third Annual Meeting of the Study Group on Seizures in Infancy and Early Childhood, Tokyo, December 18,1999
- Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies
- Hyperpolarization-activated cyclic nucleotide gated channels: a potential molecular link between epileptic seizures and Aβ generation in Alzheimer's disease