Detalhe da pesquisa
1.
NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.
Brain
; 145(11): 3999-4015, 2022 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148379
2.
GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description.
Muscle Nerve
; 58(5): 700-707, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30192030
3.
Two recurrent mutations are associated with GNE myopathy in the North of Britain.
J Neurol Neurosurg Psychiatry
; 85(12): 1359-65, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24695763
4.
Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy.
J Neuromuscul Dis
; 8(2): 225-234, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33459658
5.
Economic Costs of Myasthenia Gravis: A Systematic Review.
Pharmacoeconomics
; 38(7): 715-728, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32363541
6.
GNE genotype explains 20% of phenotypic variability in GNE myopathy.
Neurol Genet
; 5(1): e308, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842975
7.
A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy.
Neurology
; 92(18): e2109-e2117, 2019 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31036580
8.
GNE myopathy: from clinics and genetics to pathology and research strategies.
Orphanet J Rare Dis
; 13(1): 70, 2018 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29720219
9.
Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.
Neuromuscul Disord
; 28(2): 158-168, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29305133
10.
Reduced serum myostatin concentrations associated with genetic muscle disease progression.
J Neurol
; 264(3): 541-553, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28074267
11.
Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.
J Neuromuscul Dis
; 4(4): 293-306, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29125504
12.
Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy.
J Neuromuscul Dis
; 2(3): 241-255, 2015 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26870665
13.
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.
Neuromuscul Disord
; 25(9): 713-8, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26231298
14.
237th ENMC International Workshop: GNE myopathy - current and future research Hoofddorp, The Netherlands, 14-16 September 2018.
Neuromuscul Disord
; 29(5): 401-410, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30956020
15.
Atrial fibrillation associated with ivabradine treatment: meta-analysis of randomised controlled trials.
Heart
; 100(19): 1506-10, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24951486