Detalhe da pesquisa
1.
High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.
J Neurol Neurosurg Psychiatry
; 94(1): 74-81, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36261288
2.
Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review.
Neurol Int
; 16(1): 226-238, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38392956
3.
Inherited C-terminal TREX1 variants disrupt homology-directed repair to cause senescence and DNA damage phenotypes in Drosophila, mice, and humans.
Nat Commun
; 15(1): 4696, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38824133
4.
Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying NOTCH2NLC Repeat Expansion.
Brain Sci
; 13(6)2023 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37371433
5.
[Rethinking Lacunar Stroke: Beyond Fisher's Curse].
Brain Nerve
; 73(9): 991-998, 2021 Sep.
Artigo
em Japonês
| MEDLINE | ID: mdl-34462370
6.
Corrigendum: HTRA1 Mutations Identified in Symptomatic Carriers Have the Property of Interfering the Trimer-Dependent Activation Cascade.
Front Neurol
; 12: 756038, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34566881
7.
Candesartan prevents arteriopathy progression in cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy model.
J Clin Invest
; 131(22)2021 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34779414
8.
Progressive Supranuclear Palsy with Predominant Cerebellar Ataxia.
J Mov Disord
; 13(1): 20-26, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31847511
9.
Excessive Production of Transforming Growth Factor ß1 Causes Mural Cell Depletion From Cerebral Small Vessels.
Front Aging Neurosci
; 12: 151, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32581764
10.
HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature.
Front Neurol
; 11: 545, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32719647
11.
[A case of chordoma presenting as recurrent bacterial meningitis with cerebrospinal fluid leakage].
Rinsho Shinkeigaku
; 59(5): 264-267, 2019 May 28.
Artigo
em Japonês
| MEDLINE | ID: mdl-31061304
12.
HTRA1 Mutations Identified in Symptomatic Carriers Have the Property of Interfering the Trimer-Dependent Activation Cascade.
Front Neurol
; 10: 693, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31316458
13.
[A case of multiple cerebral hemorrhage caused by sudden increase of eosinophil in a patient with eosinophilic granulomatosis with polyangiitis].
Rinsho Shinkeigaku
; 58(9): 565-569, 2018 Sep 28.
Artigo
em Japonês
| MEDLINE | ID: mdl-30175810
14.
Inappropriate interpretation of non-pathogenic HTRA1 variant as pathogenic.
Ann Clin Transl Neurol
; 10(7): 1261-1262, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37259478
15.
A novel splicing variant of ANXA11 in a patient with amyotrophic lateral sclerosis: histologic and biochemical features.
Acta Neuropathol Commun
; 9(1): 106, 2021 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34099057
16.
Correction to: A novel splicing variant of ANXA11 in a patient with amyotrophic lateral sclerosis: histologic and biochemical features.
Acta Neuropathol Commun
; 9(1): 115, 2021 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183068
17.
A patient clinically diagnosed as multiple system atrophy harboring LRRK2 p.G2019S.
Clin Park Relat Disord
; 1: 100-101, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-34316610