Detalhe da pesquisa
1.
Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans.
Genome Res
; 33(3): 435-447, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37307504
2.
Subcellular localization and ER-mediated cytotoxic function of α1A and α1ACT in spinocerebellar ataxia type 6.
Biochem Biophys Res Commun
; 695: 149481, 2024 Feb 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38211534
3.
Temporal Relationship between Impairment of Cerebellar Motor Learning and Deterioration of Ataxia in Patients with Cerebellar Degeneration.
Cerebellum
; 2023 Apr 28.
Artigo
Inglês
| MEDLINE | ID: mdl-37115382
4.
A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity.
Cerebellum
; 22(6): 1308-1311, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-36227410
5.
Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures.
J Hum Genet
; 67(9): 505-513, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-35318459
6.
Methionine homozygosity for PRNP polymorphism and susceptibility to human prion diseases.
J Neurol Neurosurg Psychiatry
; 93(7): 779-784, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35387866
7.
Soluble APP-α and APP-ß in cerebrospinal fluid as potential biomarkers for differential diagnosis of mild cognitive impairment.
Aging Clin Exp Res
; 34(2): 341-347, 2022 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-34283410
8.
Tandem internal models execute motor learning in the cerebellum.
Proc Natl Acad Sci U S A
; 115(28): 7428-7433, 2018 07 10.
Artigo
Inglês
| MEDLINE | ID: mdl-29941578
9.
Characterization of Sporadic Creutzfeldt-Jakob Disease and History of Neurosurgery to Identify Potential Iatrogenic Cases.
Emerg Infect Dis
; 26(6): 1140-1146, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32442393
10.
MM2-type sporadic Creutzfeldt-Jakob disease: new diagnostic criteria for MM2-cortical type.
J Neurol Neurosurg Psychiatry
; 91(11): 1158-1165, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32839349
11.
Ataxic phenotype with altered CaV3.1 channel property in a mouse model for spinocerebellar ataxia 42.
Neurobiol Dis
; 130: 104516, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31229688
12.
Alternative splicing in the C-terminal tail of Cav2.1 is essential for preventing a neurological disease in mice.
Hum Mol Genet
; 26(16): 3094-3104, 2017 08 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28510727
13.
Impaired striatal dopamine release in homozygous Vps35 D620N knock-in mice.
Hum Mol Genet
; 25(20): 4507-4517, 2016 10 15.
Artigo
Inglês
| MEDLINE | ID: mdl-28173004
14.
Biochemical features of genetic Creutzfeldt-Jakob disease with valine-to-isoleucine substitution at codon 180 on the prion protein gene.
Biochem Biophys Res Commun
; 496(4): 1055-1061, 2018 02 19.
Artigo
Inglês
| MEDLINE | ID: mdl-29382530
15.
Correction: A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity.
Cerebellum
; 22(6): 1312, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-36322330
16.
Update: Dura Mater Graft-Associated Creutzfeldt-Jakob Disease - Japan, 1975-2017.
MMWR Morb Mortal Wkly Rep
; 67(9): 274-278, 2018 Mar 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29518068
17.
Clinical features of the behavioural variant of frontotemporal dementia that are useful for predicting underlying pathological subtypes of frontotemporal lobar degeneration.
Psychogeriatrics
; 18(4): 307-312, 2018 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-30133939
18.
Loss of MyD88 alters neuroinflammatory response and attenuates early Purkinje cell loss in a spinocerebellar ataxia type 6 mouse model.
Hum Mol Genet
; 24(17): 4780-91, 2015 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26034136
19.
Consensus Paper: Neuroimmune Mechanisms of Cerebellar Ataxias.
Cerebellum
; 15(2): 213-32, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25823827
20.
Efficacy of intravenous methylprednisolone pulse therapy in patients with multiple sclerosis and neuromyelitis optica.
Mult Scler
; 22(10): 1337-48, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-26564994