Detalhe da pesquisa
1.
Long-term clinical observation of patients with heterozygous KIF1A variants.
Am J Med Genet A
; : e63656, 2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38760879
2.
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
em Inglês
| MEDLINE | ID: mdl-37967941
3.
Treatment of ZC4H2 Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report.
Tohoku J Exp Med
; 262(4): 239-244, 2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38267061
4.
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
em Inglês
| MEDLINE | ID: mdl-35793947
5.
Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.
Tohoku J Exp Med
; 256(4): 321-326, 2022 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35321980
6.
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
em Inglês
| MEDLINE | ID: mdl-30467354
7.
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
em Inglês
| MEDLINE | ID: mdl-30842599
8.
A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.
J Hum Genet
; 63(6): 749-753, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29556033
9.
A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.
J Hum Genet
; 62(6): 653-655, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28148925
10.
Patchy white matter hyperintensity in ring chromosome 18 syndrome.
Pediatr Int
; 58(9): 919-22, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27577543
11.
Predicting epileptic encephalopathy using mutation site analysis and in silico algorithms.
Epilepsy Behav
; 109: 107085, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32307258
12.
Xq26.1-26.2 gain identified on array comparative genomic hybridization in bilateral periventricular nodular heterotopia with overlying polymicrogyria.
Dev Med Child Neurol
; 56(12): 1221-1224, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25052774
13.
Brain magnetic resonance imaging and motor and intellectual functioning in 86 patients born at term with spastic diplegia.
Dev Med Child Neurol
; 55(2): 167-172, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23121133
14.
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.
Brain Dev
; 45(9): 505-511, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37442734
15.
A first case of childhood chronic inflammatory demyelinating polyneuropathy associated with alopecia universalis.
Brain Dev
; 44(10): 748-752, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35970688
16.
Intravenous ketogenic diet therapy for neonatal-onset pyruvate dehydrogenase complex deficiency.
Brain Dev
; 44(3): 244-248, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34863613
17.
A patient with early-onset SMAX3 and a novel variant of ATP7A.
Brain Dev
; 44(1): 63-67, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34456088
18.
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
em Inglês
| MEDLINE | ID: mdl-34607214
19.
Two cases of persistent falcine and occipital sinuses.
Brain Dev
; 43(1): 170-173, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32762957
20.
A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder.
Brain Dev
; 43(2): 303-307, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33097317