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.
A rare case of adult-onset spastic paraparesis associated with Klinefelter syndrome.
BMC Neurol
; 24(1): 29, 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38225593
4.
Patients carrying the mutation p.R406W in MAPT present with non-conforming phenotypic spectrum.
Brain
; 146(4): 1624-1636, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36171642
5.
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
6.
Experiences with advance care planning in amyotrophic lateral sclerosis: Qualitative longitudinal study with people with amyotrophic lateral sclerosis and their family carers.
Palliat Med
; : 2692163241242320, 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38610119
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Hum Mutat
; 41(5): 998-1011, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31999394
15.
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
16.
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
17.
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
18.
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Brain
; 142(6): 1561-1572, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31135052
19.
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
20.
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