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.
Assessment of diagnostic criteria for multifocal motor neuropathy in patients included in the Italian database.
Eur J Neurol
; 31(5): e16248, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38376074
4.
Impact of 2021 European Academy of Neurology/Peripheral Nerve Society diagnostic criteria on diagnosis and therapy of chronic inflammatory demyelinating polyradiculoneuropathy variants.
Eur J Neurol
; 31(4): e16190, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38165011
5.
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
6.
Neurological complications due to copper deficiency in the context of Wilson disease treatment: a case report with long-term follow-up and review of the literature.
Neurol Sci
; 45(3): 987-996, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37851293
7.
Anti-pan-neurofascin nodopathy: cause of fulminant neuropathy.
Neurol Sci
; 45(4): 1755-1759, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38190082
8.
Unclassified clinical presentations of chronic inflammatory demyelinating polyradiculoneuropathy.
J Neurol Neurosurg Psychiatry
; 94(8): 614-621, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37015771
9.
A Case of Anti-Ma2 Encephalitis Presenting with Pendular Torsional Nystagmus.
Cerebellum
; 2023 Oct 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37848701
10.
Risk of disease relapse, safety and tolerability of SARS-CoV-2 vaccination in patients with chronic inflammatory neuropathies.
Eur J Neurol
; 30(7): 1907-1918, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37000158
11.
Caspr1 antibodies autoimmune paranodopathy with severe tetraparesis: Potential relevance of antibody titers in monitoring treatment response.
J Peripher Nerv Syst
; 28(3): 522-527, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37246762
12.
Contactin 1, a Potential New Antigen Target in Membranous Nephropathy: A Case Report.
Am J Kidney Dis
; 80(2): 289-294, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34762973
13.
Adoptive Transfer of JC Virus-Specific T Lymphocytes for the Treatment of Progressive Multifocal Leukoencephalopathy.
Ann Neurol
; 89(4): 769-779, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33459417
14.
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
15.
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
16.
Variable echo time imaging for detecting the short T2* components of the sciatic nerve: a validation study.
MAGMA
; 34(3): 411-419, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32964300
17.
Diagnosing acute encephalitis in patients with hematological disorders: caveats and pitfalls.
J Neurovirol
; 26(2): 257-263, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31863400
18.
Combined Central and Peripheral Demyelination with Anti-Neurofascin155 IgG Following COVID-19 Vaccination.
Can J Neurol Sci
; 50(1): 141-143, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35107062
19.
Towards a standardised analysis of CSF in inflammatory neuropathies.
J Neurol Neurosurg Psychiatry
; 92(9): 916, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33990384
20.
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