Detalhe da pesquisa
1.
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Brain
; 147(2): 414-426, 2024 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37703328
2.
Effect of efgartigimod on muscle group subdomains in participants with generalized myasthenia gravis: post hoc analyses of the phase 3 pivotal ADAPT study.
Eur J Neurol
; 31(1): e16098, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37843174
3.
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
Brain
; 146(9): 3800-3815, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36913258
4.
Low copy numbers of complement C4 and C4A deficiency are risk factors for myositis, its subgroups and autoantibodies.
Ann Rheum Dis
; 82(2): 235-245, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36171069
5.
Comparison of clinical features between patients with anti-synthetase syndrome and dermatomyositis: Results from the MYONET registry.
Rheumatology (Oxford)
; 2023 09 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37698987
6.
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
Acta Neuropathol
; 145(6): 793-814, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37000196
7.
Description of Osmolyte Pathways in Maturing Mdx Mice Reveals Altered Levels of Taurine and Sodium/Myo-Inositol Co-Transporters.
Int J Mol Sci
; 23(6)2022 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35328671
8.
Exploring the Therapeutic Potential of Ectoine in Duchenne Muscular Dystrophy: Comparison with Taurine, a Supplement with Known Beneficial Effects in the mdx Mouse.
Int J Mol Sci
; 23(17)2022 Aug 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36076964
9.
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Brain
; 143(9): 2696-2708, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32875335
10.
The myokine GDF-15 is a potential biomarker for myositis and associates with the protein aggregates of sporadic inclusion body myositis.
Cytokine
; 127: 154966, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31901761
11.
Pitfalls in the detection of myositis specific antibodies by lineblot in clinically suspected idiopathic inflammatory myopathy.
Clin Exp Rheumatol
; 38(2): 212-219, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31287411
12.
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.
Brain
; 142(9): 2605-2616, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31332438
13.
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Brain
; 142(6): 1561-1572, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31135052
14.
Description of a Novel Mechanism Possibly Explaining the Antiproliferative Properties of Glucocorticoids in Duchenne Muscular Dystrophy Fibroblasts Based on Glucocorticoid Receptor GR and NFAT5.
Int J Mol Sci
; 21(23)2020 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33287327
15.
Abnormal NFAT5 Physiology in Duchenne Muscular Dystrophy Fibroblasts as a Putative Explanation for the Permanent Fibrosis Formation in Duchenne Muscular Dystrophy.
Int J Mol Sci
; 21(21)2020 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-33114289
16.
Anti-Inflammatory and General Glucocorticoid Physiology in Skeletal Muscles Affected by Duchenne Muscular Dystrophy: Exploration of Steroid-Sparing Agents.
Int J Mol Sci
; 21(13)2020 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32605223
17.
Long-term safety and efficacy of eculizumab in generalized myasthenia gravis.
Muscle Nerve
; 60(1): 14-24, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30767274
18.
Efficacy and safety of IVIG in CIDP: Combined data of the PRIMA and PATH studies.
J Peripher Nerv Syst
; 24(1): 48-55, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30672091
19.
A Phase 3 Multicenter, Prospective, Open-Label Efficacy and Safety Study of Immune Globulin (Human) 10% Caprylate/Chromatography Purified in Patients with Myasthenia Gravis Exacerbations.
Eur Neurol
; 81(5-6): 223-230, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31655810
20.
Activation of osmolyte pathways in inflammatory myopathy and Duchenne muscular dystrophy points to osmoregulation as a contributing pathogenic mechanism.
Lab Invest
; 96(8): 872-84, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27322952