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.
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
3.
Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.
Brain
; 146(12): 5044-5059, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38040034
4.
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
5.
As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort.
Mov Disord
; 38(8): 1557-1558, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37528564
6.
Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity.
Mov Disord
; 31(12): 1891-1900, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27782309
7.
Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.
Ann Clin Transl Neurol
; 10(11): 2000-2012, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37641437
8.
Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
EBioMedicine
; 98: 104855, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38251463
9.
Real-time use of audio-biofeedback can improve postural sway in patients with degenerative ataxia.
Ann Clin Transl Neurol
; 6(2): 285-294, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30847361
10.
Short-read genome sequencing allows 'en route' diagnosis of patients with atypical Friedreich ataxia.
J Neurol
; 270(8): 4112-4117, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37119371
11.
Individualized exergame training improves postural control in advanced degenerative spinocerebellar ataxia: A rater-blinded, intra-individually controlled trial.
Parkinsonism Relat Disord
; 39: 80-84, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28365204
12.
Identifying Niemann-Pick type C in early-onset ataxia: two quick clinical screening tools.
J Neurol
; 263(10): 1911-8, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27314965