R133C and R168X mutations in Japanese Rett syndrome patients : a caution for misdiagnosis
スポンサーリンク
概要
- 論文の詳細を見る
- 2001-12-02
著者
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Nomura Yoshiko
Segawa Neurological Clinic For Children
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SEGAWA Masaya
Segawa Neurological Clinic for Children
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Yamakawa Kazuhiro
Laboratory of Neurogenetics, RIKEN, Brain Science Institute
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Amano Kenji
Laboratory For Neurogenetics Brain Science Institute The Institute Of Physical And Chemical Research
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Nomura Yoshiko
Segawa Neurologic Clinic For Children
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Yamakawa Kazuhiro
Laboratory For Neurogenetics Riken Brain Science Institute
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Yamakawa Kazuhiro
Laboratory For Neurogenetics Brain Science Institute Institute Of Physical And Chemical Research (ri
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Yamakawa Kazuhiro
Department Of Otolaryngology Kochi Medical School
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Segawa Masaya
Segawa Neurologic Clinic For Children
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NUMURA Yoshiko
Segawa Neurological Clinic for Children
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- Molecular basis of severe myoclonic epilepsy in infancy
- Emerging and entraining patterns of the sleep-wake rhythm in preterm and term infants
- R133C and R168X mutations in Japanese Rett syndrome patients : a caution for misdiagnosis
- Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome
- Development of the nigrostriatal dopamine neuron and the pathways in the basal ganglia
- Neurophysiology of Tourette's syndrome : pathophysiological considerations
- Video analysis of gross body movements during sleep
- Preface
- Hereditary progressive dystonia with marked diurnal fluctuation
- Cases of dopa-responsive dystonia (Segawa disease) in Estonia
- Guidelines for reporting clinical features in cases with MECP2 mutations, by Alison Kerr and an international group
- Early behavior characteristics and sleep disturbance in Rett syndrome
- Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems
- Neurophysiology of Rett syndrome
- Development of language in Rett syndrome
- Early motor disturbances in Rett syndrome and its pathophysiological importance
- Epilepsy in autism : A pathophysiological consideration
- Pathophysiology of Rett syndrome from the stand point of clinical
- Hereditary progressive dystonia with marked diurnal fluctuation
- Frequencies of sister chromatid exchanges in cells from patients with neurofibromatosis induced by mitomycin-C.