Detalhe da pesquisa
1.
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.
Brain
; 139(Pt 8): 2143-53, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259756
2.
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.
Hum Mol Genet
; 23(9): 2353-63, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24334769
3.
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Brain
; 137(Pt 9): 2429-43, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24951643
4.
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Am J Hum Genet
; 88(2): 162-72, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21310273
5.
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Brain
; 136(Pt 3): 944-56, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23404334
6.
Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes.
Hum Mol Genet
; 19(9): 1726-40, 2010 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20147321
7.
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
Brain
; 134(Pt 1): 171-182, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21186264
8.
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy.
Hum Mol Genet
; 18(11): 1976-89, 2009 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19286669
9.
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration.
FASEB J
; 21(3): 732-42, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17185750
10.
Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy.
Sci Rep
; 6: 19750, 2016 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-26813695
11.
The differential gene expression profiles of proximal and distal muscle groups are altered in pre-pathological dysferlin-deficient mice.
Neuromuscul Disord
; 15(12): 863-77, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16288871
12.
Cardiomyocyte Regeneration in the mdx Mouse Model of Nonischemic Cardiomyopathy.
Stem Cells Dev
; 24(14): 1672-9, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25749191
13.
Absence of Cardiac Benefit with Early Combination ACE Inhibitor and Beta Blocker Treatment in mdx Mice.
J Cardiovasc Transl Res
; 8(3): 198-207, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25896492
14.
Assessment of ventricular function in mouse models of muscular dystrophy: a comparison of MRI with conductance catheter.
Neuromuscul Disord
; 25(1): 24-31, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25454734
15.
Development and Application of an Ultrasensitive Hybridization-Based ELISA Method for the Determination of Peptide-Conjugated Phosphorodiamidate Morpholino Oligonucleotides.
Nucleic Acid Ther
; 25(5): 275-84, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26176274
16.
Dystrophin quantification: Biological and translational research implications.
Neurology
; 83(22): 2062-9, 2014 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25355828
17.
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.
J Neuromuscul Dis
; 1(1): 75-90, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-26870663
18.
Muscular dystrophy in dysferlin-deficient mouse models.
Neuromuscul Disord
; 23(5): 377-87, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23473732
19.
Exon skipping and gene transfer restore dystrophin expression in human induced pluripotent stem cells-cardiomyocytes harboring DMD mutations.
Stem Cells Dev
; 22(20): 2714-24, 2013 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23829870
20.
Efficient and fast functional screening of microdystrophin constructs in vivo and in vitro for therapy of duchenne muscular dystrophy.
Hum Gene Ther
; 20(6): 641-50, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19239382