Detalhe da pesquisa
1.
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
Hum Mol Genet
; 32(1): 46-54, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35913761
2.
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Brain
; 147(5): 1887-1898, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38193360
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.
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
em Inglês
| MEDLINE | ID: mdl-37399286
5.
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
6.
Quantitative Oculomotor Assessment in Hereditary Ataxia: Discriminatory Power, Correlation with Severity Measures, and Recommended Parameters for Specific Genotypes.
Cerebellum
; 23(1): 121-135, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36640220
7.
GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.
Brain
; 146(10): 4144-4157, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165652
8.
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
9.
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
10.
Quantitative Oculomotor Assessment in Hereditary Ataxia: Systematic Review and Consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers.
Cerebellum
; 2023 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37117990
11.
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
12.
Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia.
Brain
; 144(5): 1467-1481, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33889951
13.
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
Ann Neurol
; 88(2): 251-263, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32337771
14.
ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India.
Cerebellum
; 18(4): 807-812, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30963395
15.
The ERICA Score: An MR Imaging-based Visual Scoring System for the Assessment of Entorhinal Cortex Atrophy in Alzheimer Disease.
Radiology
; 288(1): 226-333, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29514015
16.
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
17.
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
18.
Sensory axonal neuropathy in RFC1-disease: tip of the iceberg of broad subclinical multisystemic neurodegeneration.
Brain
; 145(3): e6-e9, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35230382
19.
Transient activity in monkey area MT represents speed changes and is correlated with human behavioral performance.
J Neurophysiol
; 113(3): 890-903, 2015 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25392161
20.
Multifeature quantitative motor assessment of upper limb ataxia including drawing and reaching.
Ann Clin Transl Neurol
; 11(5): 1097-1109, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38590028