Detalhe da pesquisa
1.
Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations.
Angiogenesis
; 26(1): 37-52, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35902510
2.
Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis.
Ann Neurol
; 91(3): 317-328, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35064929
3.
A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity.
Cerebellum
; 22(6): 1308-1311, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36227410
4.
PHACES-like syndrome with TMEM260 compound heterozygous variants.
Am J Med Genet A
; 191(8): 2215-2218, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183566
5.
Noncanonical splice-site variant in peripheral myelin protein 22 gene (PMP22) in a patient with hereditary neuropathy with liability to pressure palsies.
J Peripher Nerv Syst
; 28(3): 513-517, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37170477
6.
Clinical features of a family with late-onset distal hereditary motor neuropathy harboring p.Pro39Leu variant of HSPB1.
J Peripher Nerv Syst
; 28(3): 518-521, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37249095
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.
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families.
J Hum Genet
; 67(7): 399-403, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35091664
9.
Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.
Clin Genet
; 101(3): 335-345, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34958122
10.
Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population.
Cerebellum
; 21(6): 954-962, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34845661
11.
Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson's Disease.
Cerebellum
; 2022 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36097244
12.
Valosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case report.
BMC Neurol
; 22(1): 406, 2022 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36329418
13.
Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.
J Med Genet
; 58(10): 701-711, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33067351
14.
Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis.
Neurogenetics
; 22(1): 11-17, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32815063
15.
Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population.
J Hum Genet
; 66(3): 237-241, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32920598
16.
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Clin Genet
; 99(3): 359-375, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33179255
17.
Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation.
Hum Mutat
; 41(8): 1447-1460, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32485067
18.
Clinical features of inherited neuropathy with BSCL2 mutations in Japan.
J Peripher Nerv Syst
; 25(2): 125-131, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32108980
19.
An autopsy case of GM1 gangliosidosis type II in a patient who survived a long duration with artificial respiratory support.
Neuropathology
; 40(4): 379-388, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32219895
20.
Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations.
Neurogenetics
; 20(2): 65-71, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30847648