Detalhe da pesquisa
1.
Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.
Int J Mol Sci
; 24(13)2023 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37446359
2.
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
J Neurol Neurosurg Psychiatry
; 2022 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35896379
3.
Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights.
RNA Biol
; 19(1): 507-518, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35388741
4.
Identification of exosomal muscle-specific miRNAs in serum of myotonic dystrophy patients relating to muscle disease progress.
Hum Mol Genet
; 26(17): 3285-3302, 2017 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28637233
5.
Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.
J Inherit Metab Dis
; 42(5): 984-992, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30931530
6.
Polymyositis with mitochondrial pathology or atypical form of sporadic inclusion body myositis: case series and review of the literature.
Rheumatol Int
; 39(8): 1459-1466, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31055642
7.
Anti-TIF1-γ autoantibodies-positive dermatomyositis: where is the malignancy?
Rheumatology (Oxford)
; 57(4): 756, 2018 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28968891
8.
Stiff-Leg Syndrome Associated with Autoimmune Retinopathy and Its Treatment with IVIg-A Case Report and Review of the Literature.
Brain Sci
; 13(10)2023 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37891730
9.
Author's Reply: Myotonic dystrophy: The occurrence of early-onset cataract.
Neurol India
; 65(4): 923, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28681796
10.
Serum miRNAs as biomarkers for the rare types of muscular dystrophy.
Neuromuscul Disord
; 32(4): 332-346, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393236
11.
Effect of aerobic and resistance exercise training on late-onset Pompe disease patients receiving enzyme replacement therapy.
Mol Genet Metab
; 104(3): 279-83, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21640624
12.
Myotonic dystrophy type 2 presenting as inflammatory myopathy.
Neurol India
; 64(5): 1051-2, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27625258
13.
The Relevance of Blepharoptosis in Diagnostic Suspicion of Myopathies.
Neurol India
; 69(1): 177-180, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33642296
14.
Effect of long term enzyme replacement therapy in late onset Pompe disease: A single-centre experience.
Neuromuscul Disord
; 31(2): 91-100, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33451932
15.
miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1.
Mol Ther Methods Clin Dev
; 23: 169-183, 2021 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34703840
16.
Serum Transaminases in Muscle Diseases.
J Clin Rheumatol
; 21(7): 389, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26398474
17.
Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene.
Acta Myol
; 39(2): 94-97, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32904881
18.
Pretreatment antibodies against acid α-glycosidase in a patient with late-onset Pompe disease.
Muscle Nerve
; 45(3): 452, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22334186
19.
The multifaceted clinical presentation of VCP-proteinopathy in a Greek family.
Acta Myol
; 36(4): 203-206, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29770363
20.
Bent spine syndrome in facioscapulohumeral muscular dystrophy.
Muscle Nerve
; 43(4): 615; author reply 615-6, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21404293