Detalhe da pesquisa
1.
A PIAS1 Protective Variant S510G Delays polyQ Disease Onset by Modifying Protein Homeostasis.
Mov Disord
; 37(4): 767-777, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34951052
2.
COQ2 and SNCA polymorphisms interact with environmental factors to modulate the risk of multiple system atrophy and subtype disposition.
Eur J Neurol
; 29(10): 2956-2966, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35748722
3.
Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.
Int J Mol Sci
; 22(9)2021 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34067185
4.
Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation.
Int J Mol Sci
; 22(15)2021 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34361012
5.
Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan.
Cerebellum
; 19(4): 544-549, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32367277
6.
Management of Patients with Cerebellar Ataxia During the COVID-19 Pandemic: Current Concerns and Future Implications.
Cerebellum
; 19(4): 562-568, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32405955
7.
Novel SCA19/22-associated KCND3 mutations disrupt human KV 4.3 protein biosynthesis and channel gating.
Hum Mutat
; 40(11): 2088-2107, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31293010
8.
Intra- and Inter-Modular Connectivity Alterations in the Brain Structural Network of Spinocerebellar Ataxia Type 3.
Entropy (Basel)
; 21(3)2019 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33267031
9.
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
Brain
; 140(5): 1252-1266, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28369220
10.
Reply to: "Low Frequency of p.S510G in PIAS1 Challenges Its Relevance for Modifying Repeat Expansion Disorders".
Mov Disord
; 37(10): 2169, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36250496
11.
Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease.
Am J Hum Genet
; 92(3): 422-30, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23434117
12.
What we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseases.
J Neurogenet
; 29(2-3): 103-12, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26059699
13.
Downregulation of proteins involved in the endoplasmic reticulum stress response and Nrf2-ARE signaling in lymphoblastoid cells of spinocerebellar ataxia type 17.
J Neural Transm (Vienna)
; 121(6): 601-10, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24413982
14.
[Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)].
Acta Neurol Taiwan
; 23(2): 64-74, 2014 Jun.
Artigo
em Zh
| MEDLINE | ID: mdl-26035923
15.
MRl and MRS hints for the differentiation of cerebellar multiple system atrophy from spinocerebellar ataxia type II.
Heliyon
; 10(7): e29265, 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38601670
16.
Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease.
Ann Neurol
; 71(1): 84-92, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22275255
17.
Mutations in KCND3 cause spinocerebellar ataxia type 22.
Ann Neurol
; 72(6): 859-69, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23280837
18.
Disrupted cerebellar connectivity reduces whole-brain network efficiency in multiple system atrophy.
Mov Disord
; 28(3): 362-9, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23325625
19.
Impairments in cognitive function and brain connectivity in severe asymptomatic carotid stenosis.
Stroke
; 43(10): 2567-73, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22935402
20.
Quantifying cerebellar atrophy in multiple system atrophy of the cerebellar type (MSA-C) using three-dimensional gyrification index analysis.
Neuroimage
; 61(1): 1-9, 2012 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22401757