Detalhe da pesquisa
1.
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Am J Hum Genet
; 110(7): 1098-1109, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37301203
2.
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
3.
The Role of the Human Cerebellum for Learning from and Processing of External Feedback in Non-Motor Learning: A Systematic Review.
Cerebellum
; 2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38379034
4.
Age-related differences of cerebellar cortex and nuclei: MRI findings in healthy controls and its application to spinocerebellar ataxia (SCA6) patients.
Neuroimage
; 270: 119950, 2023 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36822250
5.
Using Smartphone Sensors for Ataxia Trials: Consensus Guidance by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.
Cerebellum
; 2023 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38015365
6.
Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers.
Cerebellum
; 2023 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37955812
7.
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND ): Time to Move Beyond the Skin.
Mov Disord
; 37(8): 1707-1718, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35699229
8.
System Comparison for Gait and Balance Monitoring Used for the Evaluation of a Home-Based Training.
Sensors (Basel)
; 22(13)2022 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35808470
9.
Neurochemical Differences in Spinocerebellar Ataxia Type 14 and 1.
Cerebellum
; 20(2): 169-178, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33063293
10.
[Adult-onset ataxias]. / Ataxien des Erwachsenenalters.
Nervenarzt
; 92(4): 379-389, 2021 Apr.
Artigo
em Alemão
| MEDLINE | ID: mdl-33751151
11.
Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14.
Cerebellum
; 19(4): 469-482, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32338350
12.
Cerebellar Involvement in DYT-THAP1 Dystonia.
Cerebellum
; 18(5): 969-971, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31367947
13.
Variable Age at Onset in AOPEP-Associated Dystonia.
Mov Disord
; 38(12): 2318-2319, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38113317
14.
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients.
Mov Disord
; 38(6): 1109-1112, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37027459
15.
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Brain
; 140(6): 1561-1578, 2017 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28459997
16.
Reference values for the Cerebellar Cognitive Affective Syndrome Scale: age and education matter.
Brain
; 144(2): e20, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33367632
17.
Structural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich's ataxia.
Brain
; 138(Pt 5): 1182-97, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25818870
18.
Reply: Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.
Brain
; 142(4): e13, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30847463
19.
Clinical and neurophysiological profile of four German families with spinocerebellar ataxia type 14.
Cerebellum
; 13(1): 89-96, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24030789
20.
Reply: POLR3A variants in hereditary spastic paraplegia and ataxia.
Brain
; 141(1): e2, 2018 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29236946