Detalhe da pesquisa
1.
A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical Monitoring.
Int J Mol Sci;
24(6)2023 Mar 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36982290
2.
TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.
Neuropathol Appl Neurobiol;
48(2): e12771, 2022 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34648194
3.
A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α-dystroglycan.
EMBO Rep;
20(11): e47967, 2019 11 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31566294
4.
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.
J Neurol Neurosurg Psychiatry;
89(7): 762-768, 2018 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29437916
5.
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
Am J Hum Genet;
92(3): 354-65, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23453667
6.
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
Am J Hum Genet;
93(1): 29-41, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23768512
7.
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Brain;
136(Pt 1): 269-81, 2013 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23288328
8.
Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies.
Hum Mol Genet;
20(9): 1763-75, 2011 May 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21317159
9.
Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy.
Mol Ther;
20(2): 462-7, 2012 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22086232
10.
MyoD-induced reprogramming of human fibroblasts and urinary stem cells in vitro: protocols and their applications.
Front Physiol;
14: 1145047, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37265839
11.
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study.
Lancet;
378(9791): 595-605, 2011 Aug 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21784508
12.
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.
Brain;
134(Pt 12): 3547-59, 2011 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22102647
13.
Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy.
J Cachexia Sarcopenia Muscle;
13(2): 1360-1372, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35083887
14.
Muscular dystrophies due to glycosylation defects: diagnosis and therapeutic strategies.
Curr Opin Neurol;
24(5): 437-42, 2011 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21825985
15.
Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases.
Front Physiol;
12: 716471, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34744760
16.
The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy.
Acta Neuropathol Commun;
9(1): 7, 2021 01 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33407808
17.
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients.
J Neuropathol Exp Neurol;
80(10): 955-965, 2021 10 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34498054
18.
Irradiation dependent inflammatory response may enhance satellite cell engraftment.
Sci Rep;
10(1): 11119, 2020 07 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32632224
19.
Myostatin Is a Quantifiable Biomarker for Monitoring Pharmaco-gene Therapy in Duchenne Muscular Dystrophy.
Mol Ther Methods Clin Dev;
18: 415-421, 2020 Sep 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32695843
20.
A high-throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies.
Acta Neuropathol Commun;
8(1): 53, 2020 04 17.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32303261