Detalhe da pesquisa
1.
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.
Neurogenetics
; 25(2): 149-156, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38286980
2.
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
3.
Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders.
J Peripher Nerv Syst
; 28(4): 597-607, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37555797
4.
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
5.
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
6.
Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan.
Cerebellum
; 21(5): 851-860, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34498198
7.
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
8.
The application of shotgun metagenomics to the diagnosis of granulomatous amoebic encephalitis due to Balamuthia mandrillaris: a case report.
BMC Neurol
; 21(1): 392, 2021 Oct 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34627183
9.
Hypercapnia versus normocapnia for emergence from desflurane anaesthesia: Single-blinded randomised controlled study.
Eur J Anaesthesiol
; 38(11): 1148-1157, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34313609
10.
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
11.
Factors influencing physician decisions to discontinue treatment after onset of liver dysfunction: Post-hoc analysis of an all-case post-marketing surveillance study of iguratimod.
Mod Rheumatol
; 30(4): 633-639, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31403345
12.
Investigation of the predictors of the response to Iguratimod therapy: A post-hoc analysis of post-marketing surveillance study.
Mod Rheumatol
; 30(4): 626-632, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31393189
13.
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
14.
Muscle pathology of hereditary motor and sensory neuropathy with proximal dominant involvement with TFG mutation.
Muscle Nerve
; 60(6): 739-744, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31449671
15.
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
Brain
; 141(6): 1622-1636, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29718187
16.
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
17.
Peripheral neuropathy in a case with CADASIL: a case report.
BMC Neurol
; 18(1): 134, 2018 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-30170552
18.
Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.
J Peripher Nerv Syst
; 23(1): 40-48, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29381233
19.
Clinical diversity caused by novel IGHMBP2 variants.
J Hum Genet
; 62(6): 599-604, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28202949
20.
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
Ann Neurol
; 79(4): 659-72, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26991897