Hereditary progressive dystonia with marked diurnal fluctuation
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概要
- 論文の詳細を見る
- 2000-09-01
著者
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SEGAWA Masaya
Segawa Neurological Clinic for Children
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Segawa Masaya
Segawa Neurologic Clinic For Children
関連論文
- Abnormalities of voluntary saccades in Gilles de la Tourette's syndrome : pathophysiological consideration
- A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures
- Neurology of Tourette's syndrome (TS) TS as a developmental dopamine disorder : a hypothesis
- Guidelines for reporting clinical features in cases with MECP2 mutations
- Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation(HPD), strictly defined dopa-responsive dystonia
- X-ray induced Sister Chromatid Exchange and Chromosomal Aberrations in the Lymphocytes from the Patients with Neurofibromatosis
- Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia(DYT1) : pathophysiological consideration
- 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
- Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems
- 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.