Detalhe da pesquisa
1.
Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan.
J Hum Genet
; 69(1): 27-31, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37848721
2.
Assessment for the timing of comprehensive genomic profiling tests in patients with advanced solid cancers.
Cancer Sci
; 114(8): 3385-3395, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37208840
3.
Genetic factors affecting survival in Japanese patients with sporadic amyotrophic lateral sclerosis: a genome-wide association study and verification in iPSC-derived motor neurons from patients.
J Neurol Neurosurg Psychiatry
; 94(10): 816-824, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37142397
4.
Novel partial deletions, frameshift and missense mutations of CSF1R in patents with CSF1R-related leukoencephalopathy.
Eur J Neurol
; 30(7): 1861-1870, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36943150
5.
Gait video-based prediction of unified Parkinson's disease rating scale score: a retrospective study.
BMC Neurol
; 23(1): 358, 2023 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37798685
6.
Current status and challenges of neurosurgical procedures for patients with myelomeningocele in real-world Japan.
Childs Nerv Syst
; 39(11): 3137-3145, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35907006
7.
Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments.
J Hum Genet
; 67(6): 353-362, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027655
8.
A diagnostic index based on quantitative susceptibility mapping and voxel-based morphometry may improve early diagnosis of Alzheimer's disease.
Eur Radiol
; 32(7): 4479-4488, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35137303
9.
Autoimmune Glial Fibrillary Acidic Protein Astrocytopathy Presenting with Area Postrema Syndrome-Like Symptoms without Medulla Oblongata Lesions.
Neuroimmunomodulation
; 29(4): 433-438, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35421859
10.
Moyamoya Disease Associated with a Deficiency of Complement Component 6.
J Stroke Cerebrovasc Dis
; 31(8): 106601, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35717718
11.
Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review.
J Hum Genet
; 66(5): 535-537, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33127985
12.
Progressive multifocal leukoencephalopathy with mild clinical conditions and detection of archetype-like JC virus in cerebrospinal fluid.
J Neurovirol
; 27(6): 917-922, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34550545
13.
Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family.
J Bone Miner Metab
; 39(5): 804-809, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33821301
14.
Correlation of active contact location with weight gain after subthalamic nucleus deep brain stimulation: a case series.
BMC Neurol
; 21(1): 351, 2021 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34517835
15.
Clinical significance of comprehensive genomic profiling tests covered by public insurance in patients with advanced solid cancers in Hokkaido, Japan.
Jpn J Clin Oncol
; 51(5): 753-761, 2021 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33532831
16.
The disease sites of female genital cancers of BRCA1/2-associated hereditary breast and ovarian cancer: a retrospective study.
World J Surg Oncol
; 19(1): 36, 2021 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33531027
17.
Clinical impact of a cancer genomic profiling test using an in-house comprehensive targeted sequencing system.
Cancer Sci
; 111(10): 3926-3937, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32772458
18.
Risk factors for lymph node metastasis of ovarian, fallopian tube and primary peritoneal cancer in hereditary breast and ovarian cancer syndrome.
Jpn J Clin Oncol
; 50(12): 1380-1385, 2020 Dec 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32676635
19.
Investigating the role of genetic counseling in neuromuscular disease considering life events.
J Hum Genet
; 64(6): 551-559, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30867548
20.
The Responsiveness of Triaxial Accelerometer Measurement of Gait Ataxia Is Higher than That of the Scale for the Assessment and Rating of Ataxia in the Early Stages of Spinocerebellar Degeneration.
Cerebellum
; 18(4): 721-730, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30993540