Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome

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概要

• 論文の詳細を見る
• Springer-Verlag Tokyoの論文
• 2000-07-01

著者

• Nomura Yoshiko

  Segawa Neurological Clinic For Children

• SEGAWA Masaya

  Segawa Neurological Clinic for Children

• Yamakawa Kazuhiro

  Laboratory of Neurogenetics, RIKEN, Brain Science Institute

• Amano Kenji

  Laboratory For Neurogenetics Brain Science Institute The Institute Of Physical And Chemical Research

• Nomura Yoshiko

  Segawa Neurologic Clinic For Children

• Yamakawa Kazuhiro

  Laboratory For Neurogenetics Riken Brain Science Institute

• Yamakawa Kazuhiro

  Laboratory For Neurogenetics Brain Science Institute Institute Of Physical And Chemical Research (ri

• Yamakawa Kazuhiro

  Department Of Otolaryngology Kochi Medical School

• Segawa Masaya

  Segawa Neurologic Clinic For Children

• NUMURA Yoshiko

  Segawa Neurological Clinic for Children

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• 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
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• 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.

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