Detalhe da pesquisa
1.
Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.
Ann Neurol
; 95(2): 400-406, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37962377
2.
Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease.
Neurobiol Dis
; 193: 106456, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38423193
3.
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
Ann Neurol
; 94(3): 470-485, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37243847
4.
FARS-ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change.
Mov Disord
; 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38509638
5.
Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study.
Mov Disord
; 39(3): 510-518, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38140802
6.
Factors Influencing Health-Related Quality of Life of Patients with Spinocerebellar Ataxia.
Cerebellum
; 2024 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279001
7.
Cerebellar Volumetry in Ataxias: Relation to Ataxia Severity and Duration.
Cerebellum
; 2024 Feb 16.
Artigo
em 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
em Inglês
| MEDLINE | ID: mdl-37071051
9.
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Am J Hum Genet
; 107(2): 364-373, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707086
10.
Integrative data semantics through a model-enabled data stewardship.
Bioinformatics
; 38(15): 3850-3852, 2022 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35652780
11.
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
em Inglês
| MEDLINE | ID: mdl-36798010
12.
Clinically Meaningful Magnetic Resonance Endpoints Sensitive to Preataxic Spinocerebellar Ataxia Types 1 and 3.
Ann Neurol
; 2022 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36511514
13.
Temporal Dynamics of the Scale for the Assessment and Rating of Ataxia in Spinocerebellar Ataxias.
Mov Disord
; 38(1): 35-44, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273394
14.
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia.
Mov Disord
; 38(4): 654-664, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36695111
15.
Synaptic Loss in Spinocerebellar Ataxia Type 3 Revealed by SV2A Positron Emission Tomography.
Mov Disord
; 38(6): 978-989, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37023261
16.
Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (AGI) Working Group Expert Guidance.
Cerebellum
; 2023 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37020147
17.
Scale for the Assessment and Rating of Ataxia (SARA): Development of a Training Tool and Certification Program.
Cerebellum
; 2023 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36922437
18.
SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias.
Cerebellum
; 2023 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37002505
19.
Health-Related Quality of Life in Patients with Spinocerebellar Ataxia: a Validation Study of the EQ-5D-3L.
Cerebellum
; 2023 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37713052
20.
French Translation and Cross-cultural Adaptation of the Scale for the Assessment and Rating of Ataxia.
Cerebellum
; 22(6): 1118-1122, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36208403