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.
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
3.
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
4.
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
5.
Structural dynamics of the nuclear pore complex.
Semin Cell Dev Biol
; 68: 27-33, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28579449
6.
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
7.
Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.
Ann Clin Transl Neurol
; 11(1): 96-104, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37916889
8.
Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE.
J Peripher Nerv Syst
; 18(1): 89-93, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23521649
9.
Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan.
Front Neurol
; 14: 1078195, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36779057
10.
Anti-ganglionic acetylcholine receptor antibodies in functional neurological symptom disorder/conversion disorder.
Front Neurol
; 14: 1137958, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36860574
11.
Stable trapping of multiple proteins at physiological conditions using nanoscale chambers with macromolecular gates.
Nat Commun
; 14(1): 5131, 2023 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37612271
12.
Efficacy of l-Arginine treatment in patients with HTLV-1-associated neurological disease.
Ann Clin Transl Neurol
; 10(2): 237-245, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36547017
13.
Identification and tracking of HTLV-1-infected T cell clones in virus-associated neurologic disease.
JCI Insight
; 8(7)2023 04 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37036006
14.
A new mitochondria-related disease showing myopathy with episodic hyper-creatine kinase-emia.
Ann Neurol
; 70(3): 486-92, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21905081
15.
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.
J Neurol
; 269(12): 6406-6415, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35907044
16.
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
17.
Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible.
Biomedicines
; 10(7)2022 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35884855
18.
Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy.
Front Neurol
; 13: 986504, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36061987
19.
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
20.
Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan.
Front Neurol
; 13: 952493, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36034314