Detalhe da pesquisa
1.
p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR).
Cell
; 184(3): 689-708.e20, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33482083
2.
Stress Granule Assembly Disrupts Nucleocytoplasmic Transport.
Cell
; 173(4): 958-971.e17, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29628143
3.
Phage display of environmental protein toxins and virulence factors reveals the prevalence, persistence, and genetics of antibody responses.
Immunity
; 55(6): 1051-1066.e4, 2022 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35649416
4.
Neuropeptide delivery to synapses by long-range vesicle circulation and sporadic capture.
Cell
; 148(5): 1029-38, 2012 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-22385966
5.
Defective axonal transport of endo-lysosomes and dense core vesicles in a Drosophila model of C9-ALS/FTD.
Traffic
; 23(9): 430-441, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35908282
6.
c-Jun N-Terminal Kinase Promotes Stress Granule Assembly and Neurodegeneration in C9orf72-Mediated ALS and FTD.
J Neurosci
; 43(17): 3186-3197, 2023 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37015810
7.
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
Ann Neurol
; 93(3): 563-576, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36203352
8.
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Brain
; 146(10): 4336-4349, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37284795
9.
TDP-43 and RNA form amyloid-like myo-granules in regenerating muscle.
Nature
; 563(7732): 508-513, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30464263
10.
Coexisting autoantibodies against transcription factor Sp4 are associated with decreased cancer risk in patients with dermatomyositis with anti-TIF1γ autoantibodies.
Ann Rheum Dis
; 82(2): 246-252, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36008132
11.
Transcriptional derepression of CHD4/NuRD-regulated genes in the muscle of patients with dermatomyositis and anti-Mi2 autoantibodies.
Ann Rheum Dis
; 82(8): 1091-1097, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37130727
12.
Transcriptomic profiling reveals distinct subsets of immune checkpoint inhibitor induced myositis.
Ann Rheum Dis
; 82(6): 829-836, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36801811
13.
The pattern of MHC class I expression in muscle biopsies from patients with myositis and other neuromuscular disorders.
Rheumatology (Oxford)
; 62(9): 3156-3160, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36707996
14.
Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis.
Ann Neurol
; 91(3): 317-328, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35064929
15.
Current status of clinical outcome measures in inclusion body myositis: a systematised review.
Clin Exp Rheumatol
; 41(2): 370-378, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36762744
16.
Risk Factors for Infection and Health Impacts of the Coronavirus Disease 2019 (COVID-19) Pandemic in People With Autoimmune Diseases.
Clin Infect Dis
; 74(3): 427-436, 2022 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33956972
17.
Prevalence of avascular necrosis in idiopathic inflammatory myopathies: a single-centre experience.
Rheumatology (Oxford)
; 61(3): 936-942, 2022 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34175928
18.
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
J Neurol Neurosurg Psychiatry
; 92(11): 1186-1196, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34103343
19.
Accumulation of autophagosome cargo protein p62 is common in idiopathic inflammatory myopathies.
Clin Exp Rheumatol
; 39(2): 351-356, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-32896253
20.
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Brain
; 143(12): 3589-3602, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415332