Detalhe da pesquisa
1.
Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan.
J Neurol Neurosurg Psychiatry
; 94(8): 622-630, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36948577
2.
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
3.
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
4.
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
5.
Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan.
J Neurol Neurosurg Psychiatry
; 90(2): 195-202, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30257968
6.
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
Brain
; 141(6): 1622-1636, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29718187
7.
Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.
J Hum Genet
; 63(3): 281-287, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29321516
8.
Clinical diversity caused by novel IGHMBP2 variants.
J Hum Genet
; 62(6): 599-604, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28202949
9.
Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.
J Peripher Nerv Syst
; 22(3): 191-199, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28660751
10.
Analysis of root surface properties by fluorescence/Raman intensity ratio.
Lasers Med Sci
; 32(8): 1857-1863, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28744587
11.
[Involvement of autonomic nervous system since middle age in elderly patient with giant axonal neuropathy caused by novel genetic mutation].
Rinsho Shinkeigaku
; 63(9): 566-571, 2023 Sep 20.
Artigo
em Japonês
| MEDLINE | ID: mdl-37648479
12.
Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan.
Ann Clin Transl Neurol
; 9(5): 747-755, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35482004
13.
Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.
Ann Clin Transl Neurol
; 9(7): 902-911, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35733399
14.
Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes.
J Neurol
; 269(8): 4129-4140, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35235001
15.
Imaging phospholipid conformational disorder and packing in giant multilamellar liposome by confocal Raman microspectroscopy.
Spectrochim Acta A Mol Biomol Spectrosc
; 187: 186-190, 2017 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28689162