Detalhe da pesquisa
1.
Bardet-Biedl syndrome and related disorders in Japan.
J Hum Genet
; 65(10): 847-853, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451492
2.
Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review.
Eur Neurol
; 83(3): 317-322, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32564019
3.
PSP-Phenotype in SCA8: Case Report and Systemic Review.
Cerebellum
; 18(1): 76-84, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29916049
4.
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.
Nature
; 477(7363): 211-5, 2011 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-21857683
5.
Time Course of Radiological Imaging and Variable Interindividual Symptoms in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Associated with p.Arg487His Mutation in the VCP Gene.
Eur Neurol
; 78(1-2): 78-83, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28738334
6.
Progression of Dysphagia in Spinocerebellar Ataxia Type 6.
Dysphagia
; 32(3): 420-426, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28042641
7.
Histopathological features of a patient with Charcot-Marie-Tooth disease type 2U/AD-CMTax-MARS.
J Peripher Nerv Syst
; 21(4): 370-374, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27717217
8.
Overlapping demyelinating syndromes and antiN-methyl-D-aspartate receptor encephalitis.
Ann Neurol
; 75(3): 411-28, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24700511
9.
Differential Progression of Dysphagia in Heredity and Sporadic Ataxias Involving Multiple Systems.
Eur Neurol
; 74(5-6): 237-42, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26618669
10.
Rotigotine Transdermal Patch Improves Swallowing in Dysphagic Patients with Parkinson's Disease.
Dysphagia
; 30(4): 452-6, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25966655
11.
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.
Proc Natl Acad Sci U S A
; 108(36): 14914-9, 2011 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-21852578
12.
The effect of rasagiline on swallowing function in Parkinson's disease.
Heliyon
; 10(1): e23407, 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38187336
13.
Triple A syndrome in Japan.
Muscle Nerve
; 48(3): 381-6, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23861206
14.
Details of treatment-related difficulties in men with anti-N-methyl-D-aspartate receptor encephalitis.
Eur Neurol
; 69(1): 21-6, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23128856
15.
Differences in dysphagia between spinocerebellar ataxia type 3 and type 6.
Dysphagia
; 28(3): 413-8, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23515636
16.
The effects of safinamide on dysphagia in Parkinson's disease.
PLoS One
; 18(5): e0286066, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37228084
17.
Memantine administration prevented chorea movement in Huntington's disease: a case report.
J Med Case Rep
; 17(1): 431, 2023 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37840138
18.
CANVAS-related RFC1 mutations in patients with immune-mediated neuropathy.
Sci Rep
; 13(1): 17801, 2023 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37853169
19.
Identification of a novel mutation and genotype-phenotype relationship in MEGF10 myopathy.
Neuromuscul Disord
; 32(5): 436-440, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35370044
20.
Hemiplegic migraine type 2 with new mutation of the ATP1A2 gene in Japanese cases.
Neurosci Res
; 180: 83-89, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35257835