Detalhe da pesquisa
1.
Clinical Application of the FoundationOne CDx Assay to Therapeutic Decision-Making for Patients with Advanced Solid Tumors.
Oncologist
; 26(4): e588-e596, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33325566
2.
A Guillain-Barré syndrome-associated SIGLEC10 rare variant impairs its recognition of gangliosides.
J Autoimmun
; 116: 102571, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33223341
3.
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
4.
PSP-Phenotype in SCA8: Case Report and Systemic Review.
Cerebellum
; 18(1): 76-84, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29916049
5.
A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait.
Proc Natl Acad Sci U S A
; 113(11): E1536-44, 2016 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26903630
6.
Tau accumulation in two patients with frontotemporal lobe degeneration showing different types of aphasia using 18F-THK-5351 positron emission tomography: a case report.
Int Psychogeriatr
; 30(5): 641-646, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29113604
7.
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
8.
Lamin B1 duplications cause autosomal dominant leukodystrophy.
Nat Genet
; 38(10): 1114-23, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16951681
9.
A chondroitin synthase-1 (ChSy-1) missense mutation in a patient with neuropathy impairs the elongation of chondroitin sulfate chains initiated by chondroitin N-acetylgalactosaminyltransferase-1.
Biochim Biophys Acta
; 1830(10): 4806-12, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23811343
10.
Fremanezumab for Chronic Migraine Prevention in Japanese Patients: Subgroup Analysis from Two International Trials.
J Pain Res
; 16: 1311-1319, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37101521
11.
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
12.
Fremanezumab for Episodic Migraine Prevention in Japanese Patients: Subgroup Analysis from Two International Trials.
J Pain Res
; 16: 1673-1682, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37223438
13.
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
14.
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
15.
Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies.
J Hum Genet
; 56(2): 143-6, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21160489
16.
Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome.
Nature
; 434(7033): 640-4, 2005 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-15800623
17.
Longitudinal study of primary progressive aphasia in a patient with pathologically diagnosed Alzheimer's disease: a case report.
J Med Case Rep
; 15(1): 272, 2021 May 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34034805
18.
Lung carcinoma-associated cognitive impairment in a patient with Alzheimer's disease pathology: A case report.
Clin Case Rep
; 9(7): e04482, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34257988
19.
Phenotypic and molecular diversities of spinocerebellar ataxia type 2 in Japan.
J Neurol
; 268(8): 2933-2942, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33625581
20.
Progressive amnestic cognitive impairment in a middle-aged patient with developmental language disorder: a case report.
J Med Case Rep
; 14(1): 139, 2020 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32878644