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.
Genome wide association study of HTLV-1-associated myelopathy/tropical spastic paraparesis in the Japanese population.
Proc Natl Acad Sci U S A
; 118(11)2021 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33649182
3.
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
4.
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
5.
HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case report.
BMC Musculoskelet Disord
; 24(1): 355, 2023 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37149561
6.
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
7.
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
8.
Anti-Human T-Cell Leukemia Virus Type 1 (HTLV-1) Antibody Assays in Cerebrospinal Fluid for the Diagnosis of HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis.
J Clin Microbiol
; 59(5)2021 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33658267
9.
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
10.
Intronic variant in IQGAP3 associated with hereditary neuropathy with proximal lower dominancy, urinary disturbance, and paroxysmal dry cough.
J Hum Genet
; 65(9): 717-725, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32341455
11.
Expression of TSLC1 in patients with HAM/TSP.
J Neurovirol
; 26(3): 404-414, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32285300
12.
Novel single-chain variant of antibody against mesothelin established by phage library.
Cancer Sci
; 110(9): 2722-2733, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31461572
13.
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.
Brain
; 141(6): 1622-1636, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29718187
14.
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
15.
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
16.
[Successful treatment of POEMS syndrome-associated pulmonary hypertension with lenalidomide and dexamethasone therapy].
Rinsho Ketsueki
; 59(5): 489-491, 2018.
Artigo
em Japonês
| MEDLINE | ID: mdl-29877235
17.
Effects of host restriction factors and the HTLV-1 subtype on susceptibility to HTLV-1-associated myelopathy/tropical spastic paraparesis.
Retrovirology
; 14(1): 26, 2017 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28420387
18.
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
19.
The CC chemokine ligand (CCL) 1, upregulated by the viral transactivator Tax, can be downregulated by minocycline: possible implications for long-term treatment of HTLV-1-associated myelopathy/tropical spastic paraparesis.
Virol J
; 14(1): 234, 2017 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29202792
20.
The Function of ß2-glycoprotein I in Angiogenesis and Its in Vivo Distribution in Tumor Xenografts.
Acta Med Okayama
; 70(1): 13-24, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26899605