39 results on '"Okubo, Yukimune"'
Search Results
2. Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2
3. [18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome
4. Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A
5. Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome
6. A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy
7. Biallelic null variants inPNPLA8cause microcephaly through the reduced abundance of basal radial glia
8. A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy
9. The Clinical Course and Treatment of a Case of Refractory Systemic Juvenile Myasthenia Gravis Successfully Treated with Thymectomy
10. Outcome of hemiplegic cerebral palsy born at term depends on its etiology
11. A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor
12. A first case of childhood chronic inflammatory demyelinating polyneuropathy associated with alopecia universalis
13. Water intoxication: A clue to the presence of classical Fabry disease
14. Intravenous ketogenic diet therapy for neonatal-onset pyruvate dehydrogenase complex deficiency
15. Successful treatment with dimethyl fumarate in a child with relapsing-remitting multiple sclerosis
16. 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
17. A patient with early-onset SMAX3 and a novel variant of ATP7A
18. Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2
19. Reduced efficacy of perampanel in patients with severe motor and intellectual disabilities syndrome and drug-resistant epilepsy: A single-center analysis from Japan
20. A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant
21. Two cases of persistent falcine and occipital sinuses
22. Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy
23. 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
24. A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy
25. Initial vasodilatation in a child with reversible cerebral vasoconstriction syndrome
26. Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation
27. A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation
28. Genomic analysis identifies masqueraders of full-term cerebral palsy
29. A patient with Muenke syndrome manifesting migrating neonatal seizures
30. Reversible brain atrophy in glutaric aciduria type 1
31. First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations
32. FDG-PET study of patients with Leigh syndrome
33. Neuroepidemiology of Porencephaly, Schizencephaly, and Hydranencephaly in Miyagi Prefecture, Japan
34. Leucine-485 deletion variant of BRAFmay exhibit the severe end of the clinical spectrum of CFC syndrome
35. A novel homozygous mutation of the TFGgene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy
36. A case of new PCDH12gene variants presented as dyskinetic cerebral palsy with epilepsy
37. Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.
38. Long-term clinical observation of patients with heterozygous KIF1A variants.
39. The Clinical Course and Treatment of a Case of Refractory Systemic Juvenile Myasthenia Gravis Successfully Treated with Thymectomy.
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