Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan | Child Neurology, National Center of Neurology and ...
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Shinsuke Maruyama:Expert Impact
Concepts for whichShinsuke Maruyamahas direct influence:Static encephalopathy,Cag repeat length,Childhood neurodegeneration,Neurodegeneration adulthood,Adulthood senda,Static encephalopathy childhood,Patients drpla,Cag repeat.
Shinsuke Maruyama:KOL impact
Concepts related to the work of other authors for whichfor which Shinsuke Maruyama has influence:Static encephalopathy,Brain iron accumulation,Wdr45 mutation,Pallidopyramidal syndromes,Epileptic spasms,Linked parkinsonism,Globus pallidus.
KOL Resume for Shinsuke Maruyama
Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan
|senda static encephalopathy||#16|
|static encephalopathy childhood||#30|
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Prominent publications by Shinsuke Maruyama
MRI, MR spectroscopy, and diffusion tensor imaging findings in patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)
[ PUBLICATION ]
Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is a recently established disorder that is a subtype of neurodegeneration with brain iron accumulation (NBIA). We presented the first case report of SENDA of a 39-year-old female. She had psychomotor retardation from childhood and remained static for two decades. Then, at the age of 30, she developed severe dystonia and parkinsonism. Brain MRI revealed T2-weighted hypointensity signal in the globus pallidus ...
|Known for Static Encephalopathy | Tensor Imaging | Childhood Neurodegeneration | Adulthood Senda | Substantia Nigra|
[ PUBLICATION ]
To elucidate a relationship between CAG repeat expansion length and disease progression history in patients with childhood-onset dentatorubral–pallidoluysian atrophy (DRPLA). We retrospectively evaluated information from nine Japanese patients with disease onset reported as between 6 months and 12 years of age. CAG repeat length in these patients ranged from 62 to 93. A strong correlation was confirmed for the age of disease onset, with the onset of epilepsy and involuntary movements, ...
|Known for Cag Repeat Length | Pallidoluysian Atrophy | Patients Drpla | Onset Epilepsy | Epilepsies Progressive|