Detalhe da pesquisa
1.
A centronuclear myopathy--dynamin 2 mutation impairs autophagy in mice.
Traffic
; 13(6): 869-79, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22369075
2.
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Hum Mutat
; 33(6): 949-59, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22396310
3.
A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.
Hum Mol Genet
; 19(24): 4820-36, 2010 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20858595
4.
Development of versatile allele-specific siRNAs able to silence all the dominant dynamin 2 mutations.
Mol Ther Nucleic Acids
; 29: 733-748, 2022 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36090755
5.
Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy.
Mol Ther Nucleic Acids
; 27: 1179-1190, 2022 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35282416
6.
Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.
Hum Mutat
; 30(10): 1419-27, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19623537
7.
Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model.
Sci Rep
; 9(1): 1580, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30733559
8.
A novel mutation in the dynamin 2 gene in a Charcot-Marie-Tooth type 2 patient: clinical and pathological findings.
Neuromuscul Disord
; 18(4): 334-8, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18394888
9.
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
Ann Neurol
; 62(6): 666-70, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17932957
10.
Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy.
Mol Ther Nucleic Acids
; 10: 376-386, 2018 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29499949
11.
Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy.
EMBO Mol Med
; 10(2): 239-253, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29246969
12.
Reprogramming the Dynamin 2 mRNA by Spliceosome-mediated RNA Trans-splicing.
Mol Ther Nucleic Acids
; 5(9): e362, 2016 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27623444
13.
Administration of insulin-like growth factor-1 (IGF-1) improves both structure and function of delta-sarcoglycan deficient cardiac muscle in the hamster.
Basic Res Cardiol
; 100(2): 161-70, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15611844
14.
Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice.
Cardiovasc Res
; 63(2): 293-304, 2004 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15249187
15.
Therapy for dominant inherited diseases by allele-specific RNA interference: successes and pitfalls.
Curr Gene Ther
; 15(5): 503-10, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26264709
16.
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders.
J Neuropathol Exp Neurol
; 72(9): 833-45, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23965743
17.
Dynamin 2 and human diseases.
J Mol Med (Berl)
; 88(4): 339-50, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20127478