Detalhe da pesquisa
1.
How do we get from hyperexcitability to excitotoxicity in amyotrophic lateral sclerosis?
Brain
; 147(5): 1610-1621, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38408864
2.
Distinct neuronal circuits mediate cortical hyperexcitability in amyotrophic lateral sclerosis.
Brain
; 2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38374770
3.
Reduction in short interval intracortical inhibition from the early stage reflects the pathophysiology in amyotrophic lateral sclerosis: A meta-analysis study.
Eur J Neurol
; 31(7): e16281, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38504632
4.
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.
J Peripher Nerv Syst
; 2024 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38860315
5.
Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.
Brain
; 146(3): 880-897, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36380488
6.
Not all roads lead to the immune system: the genetic basis of multiple sclerosis severity.
Brain
; 146(6): 2316-2331, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36448302
7.
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
8.
Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model.
Hum Mol Genet
; 31(1): 133-145, 2021 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387338
9.
Cortical hyperexcitability in amyotrophic lateral sclerosis: from pathogenesis to diagnosis.
Curr Opin Neurol
; 36(4): 353-359, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37387467
10.
Advances in diagnosis and management of distal sensory polyneuropathies.
J Neurol Neurosurg Psychiatry
; 94(12): 1025-1039, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36997315
11.
Effectiveness of multiple disease-modifying therapies in relapsing-remitting multiple sclerosis: causal inference to emulate a multiarm randomised trial.
J Neurol Neurosurg Psychiatry
; 94(12): 1004-1011, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37414534
12.
Clinical and neurophysiological biomarkers of disease progression in amyotrophic lateral sclerosis.
Muscle Nerve
; 67(1): 17-24, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214183
13.
Chronic inflammatory demyelinating polyradiculoneuropathy-associated tremor: Phenotype and pathogenesis.
Eur J Neurol
; 30(4): 1059-1068, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36692234
14.
Imbalance and lower limb tremor in chronic inflammatory demyelinating polyradiculoneuropathy.
J Peripher Nerv Syst
; 28(3): 415-424, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37314215
15.
Diagnostic Utility of Gold Coast Criteria in Amyotrophic Lateral Sclerosis.
Ann Neurol
; 89(5): 979-986, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33565111
16.
Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis.
J Neurol Neurosurg Psychiatry
; 93(6): 668-678, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35256455
17.
Posturography as a biomarker of intravenous immunoglobulin efficacy in chronic inflammatory demyelinating polyradiculoneuropathy.
Muscle Nerve
; 65(1): 43-50, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34383335
18.
Confirmed disability progression as a marker of permanent disability in multiple sclerosis.
Eur J Neurol
; 29(8): 2321-2334, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35582938
19.
Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.
J Peripher Nerv Syst
; 27(2): 120-126, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35224818
20.
Current approaches to the diagnosis and management of amyloidosis.
Intern Med J
; 52(12): 2046-2067, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36478370