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.
Can CANVAS due to RFC1 biallelic expansions present with pure ataxia?
J Neurol Neurosurg Psychiatry
; 95(2): 171-174, 2024 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37414537
3.
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
4.
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
5.
Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.
Eur J Neurol
; 31(1): e16063, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37772343
6.
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
7.
Severe distinct dysautonomia in RFC1-related disease associated with Parkinsonism.
J Peripher Nerv Syst
; 27(4): 311-315, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36177974
8.
RFC1 expansions are a common cause of idiopathic sensory neuropathy.
Brain
; 144(5): 1542-1550, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33969391
9.
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects.
Pract Neurol
; 22(1): 14-18, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34389644
10.
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
Brain
; 143(2): 480-490, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040566
11.
Exploratory analysis of lower limb muscle MRI in a case series of patients with SORD neuropathy.
J Neurol Neurosurg Psychiatry
; 2022 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35868853
12.
Unusual upper limb features in SORD neuropathy.
J Peripher Nerv Syst
; 27(2): 175-177, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35419909
13.
Mutation in RNF170 causes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic.
J Neurol Neurosurg Psychiatry
; 91(11): 1237-1238, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32943585
14.
Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report.
Parkinsonism Relat Disord
; 123: 106943, 2024 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38555792
15.
Progressive post infectious neurological syndromes with a poor outcome: Long term follow-up and neurofilament light chain quantification.
Mult Scler Relat Disord
; 76: 104781, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37295322
16.
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
17.
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
18.
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
19.
Impact of multiple sclerosis risk loci in postinfectious neurological syndromes.
Mult Scler Relat Disord
; 44: 102326, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32615529
20.
Antibodies to neurofascin, contactin-1, and contactin-associated protein 1 in CIDP: Clinical relevance of IgG isotype.
Neurol Neuroimmunol Neuroinflamm
; 7(1)2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31753915