Detalhe da pesquisa
1.
The Clinical Course and Treatment of a Case of Refractory Systemic Juvenile Myasthenia Gravis Successfully Treated with Thymectomy.
Tohoku J Exp Med
; 262(1): 29-31, 2024 Jan 23.
Artigo
Inglês
| MEDLINE | ID: mdl-37967941
2.
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.
Tohoku J Exp Med
; 258(1): 49-54, 2022 Aug 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35793947
3.
A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy.
J Hum Genet
; 64(2): 171-176, 2019 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-30467354
4.
Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome.
J Hum Genet
; 64(5): 499-504, 2019 May.
Artigo
Inglês
| MEDLINE | ID: mdl-30842599
5.
High-risk screening for Gaucher disease in patients with neurological symptoms.
J Hum Genet
; 63(6): 717-721, 2018 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29602947
6.
A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.
J Hum Genet
; 63(6): 749-753, 2018 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29556033
7.
A first case of childhood chronic inflammatory demyelinating polyneuropathy associated with alopecia universalis.
Brain Dev
; 44(10): 748-752, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-35970688
8.
Reduced efficacy of perampanel in patients with severe motor and intellectual disabilities syndrome and drug-resistant epilepsy: A single-center analysis from Japan.
Epilepsy Res
; 177: 106779, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-34607214
9.
Two cases of persistent falcine and occipital sinuses.
Brain Dev
; 43(1): 170-173, 2021 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-32762957
10.
Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy.
Brain Dev
; 42(9): 696-699, 2020 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-32654954
11.
Two males with sick sinus syndrome in a family with 0.6â¯kb deletions involving major domains in MECP2.
Eur J Med Genet
; 63(3): 103769, 2020 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-31536832
12.
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.
Brain Dev
; 42(2): 199-204, 2020 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-31735425
13.
A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation.
Brain Dev
; 40(4): 334-338, 2018 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-29254829
14.
[18F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome.
Epilepsy Res
; 147: 9-14, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-30176532
15.
Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation.
Brain Dev
; 40(8): 728-732, 2018 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-29699863
16.
Genomic analysis identifies masqueraders of full-term cerebral palsy.
Ann Clin Transl Neurol
; 5(5): 538-551, 2018 May.
Artigo
Inglês
| MEDLINE | ID: mdl-29761117
17.
Water intoxication: A clue to the presence of classical Fabry disease.
Brain Dev
; 44(8): 592-593, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35864002
18.
A patient with Muenke syndrome manifesting migrating neonatal seizures.
Brain Dev
; 39(10): 873-876, 2017 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-28551036
19.
Aquaporin-4 autoimmunity in a child without optic neuritis and myelitis.
Brain Dev
; 37(1): 149-52, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24750850