Detalhe da pesquisa
1.
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
2.
Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.
Mov Disord
; 39(1): 209-214, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054570
3.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Brain
; 146(12): 5060-5069, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37450567
4.
Muscle quantitative MRI as a novel biomarker in hereditary transthyretin amyloidosis with polyneuropathy: a cross-sectional study.
J Neurol
; 270(1): 328-339, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36064814
5.
Optical Genome Mapping Enables Detection and Accurate Sizing of RFC1 Repeat Expansions.
Biomolecules
; 13(10)2023 10 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37892228
6.
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.
Neurology
; 100(5): e543-e554, 2023 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36289003
7.
Electrophysiological evidence of subclinical trigeminal dysfunction in patients with COVID-19 and smell impairment: A pilot study.
Front Neurol
; 13: 981888, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36313508