Detalhe da pesquisa
1.
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
Acta Neuropathol
; 145(1): 127-143, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36264506
2.
Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.
Ann Neurol
; 77(4): 668-74, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25612243
3.
An overview of polymyositis and dermatomyositis.
Muscle Nerve
; 51(5): 638-56, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25641317
4.
The ZZ domain of dystrophin in DMD: making sense of missense mutations.
Hum Mutat
; 35(2): 257-64, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24302611
5.
Camptocormia as a late presentation in a manifesting carrier of duchenne muscular dystrophy.
Muscle Nerve
; 47(1): 124-7, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23169483
6.
LGMDD1 natural history and phenotypic spectrum: Implications for clinical trials.
Ann Clin Transl Neurol
; 10(2): 181-194, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36427278
7.
DNAJB6 isoform specific knockdown: Therapeutic potential for limb girdle muscular dystrophy D1.
Mol Ther Nucleic Acids
; 32: 937-948, 2023 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37346979
8.
Genetic-Based Treatment Strategies for Muscular Dystrophy and Congenital Myopathies.
Continuum (Minneap Minn)
; 28(6): 1800-1816, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36537981
9.
Clinical utility of anti-cytosolic 5'-nucleotidase 1A antibody in idiopathic inflammatory myopathies.
Ann Clin Transl Neurol
; 8(3): 571-578, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33556224
10.
Phenotypic diversity in an international Cure VCP Disease registry.
Orphanet J Rare Dis
; 15(1): 267, 2020 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32993728
11.
Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy.
J Clin Invest
; 130(8): 4470-4485, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32427588
12.
Lithium chloride corrects weakness and myopathology in a preclinical model of LGMD1D.
Neurol Genet
; 5(2): e318, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31123706
13.
Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy.
Neuromuscul Disord
; 28(8): 675-679, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29934118
14.
Efficient Skipping of Single Exon Duplications in DMD Patient-Derived Cell Lines Using an Antisense Oligonucleotide Approach.
J Neuromuscul Dis
; 4(3): 199-207, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28869484
15.
The first exon duplication mouse model of Duchenne muscular dystrophy: A tool for therapeutic development.
Neuromuscul Disord
; 25(11): 827-34, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26365037
16.
Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.
Neuromuscul Disord
; 24(5): 431-5, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24594375