Detalhe da pesquisa
1.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Am J Hum Genet
; 110(7): 1098-1109, 2023 07 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37301203
2.
Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.
Ann Neurol
; 95(2): 400-406, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37962377
3.
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease.
Neurobiol Dis
; 193: 106456, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38423193
4.
Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy.
J Neurol Neurosurg Psychiatry
; 95(2): 175-179, 2024 Jan 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37399286
5.
Altered binaural hearing in pre-ataxic and ataxic mutation carriers of spinocerebellar ataxia type 3.
Cerebellum
; 23(1): 172-180, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36715818
6.
Factors Influencing Health-Related Quality of Life of Patients with Spinocerebellar Ataxia.
Cerebellum
; 2024 Jan 27.
Artigo
Inglês
| MEDLINE | ID: mdl-38279001
7.
Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration.
Cerebellum
; 2024 Feb 16.
Artigo
Inglês
| MEDLINE | ID: mdl-38363498
8.
Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.
Brain
; 146(10): 4132-4143, 2023 10 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37071051
9.
A key role of the hippocampal P3 in the attentional blink.
Neuroimage
; 271: 120028, 2023 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36925086
10.
A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.
Neuropathol Appl Neurobiol
; 49(2): e12892, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36798010
11.
Clinically Meaningful Magnetic Resonance Endpoints Sensitive to Preataxic Spinocerebellar Ataxia Types 1 and 3.
Ann Neurol
; 2022 Dec 13.
Artigo
Inglês
| MEDLINE | ID: mdl-36511514
12.
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia.
Mov Disord
; 38(4): 654-664, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36695111
13.
Scale for the Assessment and Rating of Ataxia (SARA): Development of a Training Tool and Certification Program.
Cerebellum
; 2023 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-36922437
14.
SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias.
Cerebellum
; 2023 Mar 31.
Artigo
Inglês
| MEDLINE | ID: mdl-37002505
15.
Health-Related Quality of Life in Patients with Spinocerebellar Ataxia: a Validation Study of the EQ-5D-3L.
Cerebellum
; 2023 Sep 15.
Artigo
Inglês
| MEDLINE | ID: mdl-37713052
16.
MR Imaging in Ataxias: Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers.
Cerebellum
; 2023 Jun 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37280482
17.
CerebNet: A fast and reliable deep-learning pipeline for detailed cerebellum sub-segmentation.
Neuroimage
; 264: 119703, 2022 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36349595
18.
Microvascular Breakdown Due to Retinal Neurodegeneration in Ataxias.
Mov Disord
; 37(1): 162-170, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34533237
19.
Digital Gait Biomarkers Allow to Capture 1-Year Longitudinal Change in Spinocerebellar Ataxia Type 3.
Mov Disord
; 37(11): 2295-2301, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-36043376
20.
Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity.
Mov Disord
; 37(2): 405-410, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34713931