24 results on '"Miyabayashi, Takuya"'
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2. [18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome
3. Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome
4. A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy
5. A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy
6. High-risk screening for Gaucher disease in patients with neurological symptoms
7. The Clinical Course and Treatment of a Case of Refractory Systemic Juvenile Myasthenia Gravis Successfully Treated with Thymectomy
8. A first case of childhood chronic inflammatory demyelinating polyneuropathy associated with alopecia universalis
9. Water intoxication: A clue to the presence of classical Fabry disease
10. Multiple Cerebral Hemorrhages and White Matter Lesions Developing after Severe hMPV Pneumonia in a Patient with Trisomy 13: A Case Report and Review of the Literature
11. Reduced efficacy of perampanel in patients with severe motor and intellectual disabilities syndrome and drug-resistant epilepsy: A single-center analysis from Japan
12. Two cases of persistent falcine and occipital sinuses
13. Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy
14. Phenotype–genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms
15. A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy
16. Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation
17. A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation
18. Genomic analysis identifies masqueraders of full-term cerebral palsy
19. A patient with Muenke syndrome manifesting migrating neonatal seizures
20. Leucine-485 deletion variant of BRAFmay exhibit the severe end of the clinical spectrum of CFC syndrome
21. A novel homozygous mutation of the TFGgene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy
22. Aquaporin-4 autoimmunity in a child without optic neuritis and myelitis
23. A case of new PCDH12gene variants presented as dyskinetic cerebral palsy with epilepsy
24. The Clinical Course and Treatment of a Case of Refractory Systemic Juvenile Myasthenia Gravis Successfully Treated with Thymectomy.
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