Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia
スポンサーリンク
概要
- 論文の詳細を見る
- 2012-03-01
著者
-
Yokochi Kenji
Department Of Pediatrics And Pediatric Neurology Seirei-mikatahara General Hospital
-
Kubota Tetsuo
Department Of Medicine And Rheumatology Graduate School Tokyo Medical And Dental University
-
Natsume Jun
Department Of Pediatrics Japanese Red Cross Nagoya First Hospital
-
Okumura Akihisa
Department Of Pediatrics Anjo Kosei Hospital
-
Yamamoto Toshiyuki
Tokyo Women's Medical University Institute For Integrated Medical Sciences
-
Kurahashi Hirokazu
Department Of Pediatric Neurology Aichi Prefectural Colony Central Hospital
-
Shimojima Keiko
Tokyo Women's Medical University Institute For Integrated Medical Sciences
-
YOKOCHI Kenji
Department of Pediatrics, Seirei-Mikatahara General Hospital
-
KURAHASHI Hirokazu
Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital
-
AIBA Kaori
Department of Pediatrics, Toyohashi Municipal Hospital
-
Okumura Akihisa
Department of Pediatrics and Adolescent Medicine, Juntendo University School of Medicine
-
KUBOTA Tetsuo
Department of Bioregulatory Medicine and Rheumatology, Graduate School, Tokyo Medical and Dental University
関連論文
- Subsequent Epilepsy in Very-Low-Birthweight Infants : A Long-Term Follow-Up Study from Birth
- Ictal EEG in patients with convulsions with mild gastroenteritis
- A case of paraneoplastic syndrome mimicking adult-onset Still's disease
- Two cases of acute respiratory distress syndrome resulting from adult-onset Still's disease
- Allergen-specific T-cell Response in Patients with Phenytoin Hypersensitivity ; Simultaneous Analysis of Proliferation and Cytokine Production by Carboxyfluorescein Succinimidyl Ester (CFSE) Dilution Assay
- Possible antenatal and perinatal related factors in development of cystic periventricular leukomalacia
- III B21 Hippocampal a-[^C]methyl-L-tryptophan uptake negatively correlates with glucose metabolism in patients with intractable temporal lobe epilepsy
- Varicella-zoster virus hepatitis in polymyositis
- Ictal electroencephalographic findings of neonatal seizures in preterm infants
- Serial diffusion-weighted imaging of neonatal herpes encephalitis : A case report
- Antiepileptic treatment against clustered seizures in benign partial epilepsy in infancy
- Single photon emission computed tomography and serial MRI in preterm infants with kernicterus
- Evolution of seizures and electroencephalographical findings in 23 cases of deletion type Angelman syndrome
- Treatment and outcome in patients with febrile convulsion associated with epileptiform discharges on electroencephalography
- Temporal structure of the apparent motion perception : a magnetoencephalographic study
- Amplitude spectral analysis of maturational changes of delta waves in preterm infants
- The Predictive Value of Electroencephalogram during Early Infancy for Later Development of West Syndrome in Infants with Cystic Periventricular Leukomalacia
- Cerebral hemodynamics during early neonatal period in preterm infants with periventricular leukomalacia
- IV B6 A case with absence seizures of frontal lobe origin : simultaneous video-EEG findings
- Cardio-facio-cutaneous syndrome and moyamoya syndrome
- Physical condition of preterm infants with periventricular leukomalacia
- PCRにより診断し得た真菌性髄膜炎を合併した慢性肉芽腫症の一例
- Evolutional Changes and Outcome of West Syndrome: Correlation with Magnetic Resonance Imaging Findings
- Studden unexpected cardiopulmonary arrest associated with influenza infection
- Callosal lesions and delirious behavior during febrile illness
- Serum levels of cytokines and EEG findings in children with influenza associated with mild neurological complications
- Mild oliguria in preterm infants who later developed periventricular leukomalacia
- Efficacy and adverse effects of rectal thiamylal with oral triclofos for children undergoing magnetic resonance imaging
- Comparison of two low dose ACTH therapies for West syndrome:their efficacy and side effect
- A pilot study on lidocaine tape therapy for convulsions with mild gastroenteritis
- Hypoxic ischemic encephalopathy associated with neonatal seizures without other neurological abnormalities
- Combination of neonatal electroencephalography and ultrasonography : sensitive means of early diagnosis of periventricular leukomalacia
- A pilot study on umbilical venous level of natriuretic peptides in preterm infants and their relation to periventricular leukomalacia and antenatal complications
- Early Recognition of Benign Partial Epilepsy in Infancy
- Two patients with trisomy 9 mosaicism
- Epilepsy in patients with spastic cerebral palsy : correlation with MRI findings at 5 years of age
- Correlation between the serum level of endotoxin and periventricular leukomalacia in preterm infants
- DOOR syndrome concomitant with non-convulsive status epilepticus and hyperintense cerebellar cortex on T2-Weighted imaging
- Epilepsies after Pocket Monster Seizures
- A Follow-up Survey on Seizures Induced by Animated Cartoon TV Program "Pocket Monster"
- IV G1 Seizures induced by animated cartoon TV program "Pocket Monster" : a follow up survey
- Epileptic Seizures Induced by Animated Cartoon, "Pocket Monster"
- Hemiconvulsion-hemiplegia syndrome and primary human herpesvirus 7 infection
- Efficacy of a diazepam suppository at preventing febrile seizure recurrence during a single febrile illness
- Phenytoin desensitization in a child with symptomatic localization-related epilepsy
- Antipyretics and delirious behavior during febrile illness
- Delirious behavior in children with influenza : its clinical features and EEG findings
- Efficacy of antiepileptic drugs in patients with benign convulsions with mild gastroenteritis
- A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P
- Dysmature EEG pattern in EEGs of preterm infants with cognitive impairment:maturation arrest caused by prolonged mild CNS depression
- Diffusion-weighted imaging abnormalities in the corpus callosum after neonatal seizure : A case report
- A case of subacute sclerosing panencephalitis preceded by epileptic seizures : evolutional EEG changes
- Epileptic Spasms Preceded by Partial Seizures with a Close Temporal Association
- Effect of corticosteroids in a twin child with idiopathic localization-related epilepsy
- Absence seizures in patients with localization-related epilepsy
- Combination therapy with intraventricular interferon-α and ribavirin for subacute sclerosing panencephalitis and monitoring measles virus RNA by quantitative PCR assay
- Clinical features of benign convulsions with mild gastroenteritis
- Symptomatology of infantile spasms
- Inflammatory pathological changes in a 2-year-old boy with Charcot-Marie-Tooth disease
- Tongue thrust swallowing in severely physically disable children
- Cortical Hypometabolism and Delayed Myelination in West Syndrome
- Delayed myelination in West syndrome
- Transient splenial lesions in children with "benign convulsions with gastroenteritis"
- How do the clinical features of brain tumours in childhood progress before diagnosis?
- Delayed gyration with pontocerebellar hypoplasia type 1
- Reply to the letter to the editor
- Posterior reversible encephalopathy syndrome in a child with bronchial asthma
- Nutritional state, maturational delay on electroencephalogram, and developmental outcome in extremely low birth weight infants
- Transiently reduced water diffusion in the corpus callosum in infants with benign partial epilepsy in infancy
- Acute encephalopathy with biphasic seizures and late reduced diffusion associated with hemophagocytic syndrome
- Clustered subclinical seizures in a patient with acute encephalopathy with biphasic seizures and late reduced diffusion
- Usefulness of single-channel amplitude-integrated electroencephalography for continuous seizure monitoring in infancy : A case report
- The axonal damage marker tau protein in the cerebrospinal fluid is increased in patients with acute encephalopathy with biphasic seizures and late reduced diffusion
- Sepsis associated encephalopathy in an infant with biliary atresia
- Non-epileptic pedaling-like movement induced by triclofos
- Delirious behavior in children with acute necrotizing encephalopathy
- Differences in clinical manifestations of influenza-associated encephalopathy by age
- A novel PLP mutation in a Japanese patient with mild Pelizaeus-Merzbacher disease
- Outcome of acute necrotizing encephalopathy in relation to treatment with corticosteroids and gammaglobulin
- 軽度な神経学的障害を呈した脳室周囲白質軟化症の早産児の新生児期におけるMRI所見の検討
- Spontaneous spinal epidural hematoma in an infant with undiagnosed hemophilia A
- Clinico-electrical evolution in pre-hypsarrhythmic stage : towards prediction and prevention of West syndrome
- Acute necrotizing encephalopathy : A comparison between influenza and non-influenza cases
- 新しい経管栄養剤の摂取で発症した Dietary chloride deficiency syndrome の臨床的検討
- Motor functions in non-ambulatory children with spastic diplegia and periventricular leukomalacia
- Epilepsies and epileptic syndromes starting in the neonatal period
- Chronological diffusion-weighted imaging changes and mutism in the course of rotavirus-associated acute cerebellitis/cerebellopathy concurrent with encephalitis/encephalopathy
- Clinical trial of minimal treatment for clustering seizures in cases of convulsions with mild gastroenteritis
- Reply comments to 'Efficacy of a diazepam at preventing febrile seizure recurrence after febrile illness'
- Amplitude-integrated electroencephalography in patients with acute encephalopathy with refractory, repetitive partial seizures
- Early infantile manifestations of incontinentia pigmenti mimicking acute encephalopathy
- Neonatal EEG: a powerful tool in the assessment of brain damage in preterm infants
- Benign partial epilepsies in infancy
- Gait patterns in children with spastic diplegia and periventricular leukomalacia
- Reading of Kana (phonetic symbols for syllables) in Japanese children with spastic diplegia and periventricular leukomalacia
- Oral motor patterns during feeding in severely physically disabled children
- Oxidative stress in patients with clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS)
- Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes
- Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia
- Acute encephalopathy with 2009 pandemic flu : Comparison with seasonal flu