Detalhe da pesquisa
1.
A well-tolerated core needle muscle biopsy process suitable for children and adults.
Muscle Nerve
; 62(6): 688-698, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820569
2.
DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype.
Hum Mutat
; 39(9): 1193-1202, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907980
3.
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Am J Hum Genet
; 96(3): 498-506, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728775
4.
Elucidation of bioinformatic-guided high-prospect drug repositioning candidates for DMD via Swanson linking of target-focused latent knowledge from text-mined categorical metadata.
Front Cell Dev Biol
; 11: 1226707, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37664462
5.
Transcriptomic analysis of paired healthy human skeletal muscles to identify modulators of disease severity in DMD.
Front Genet
; 14: 1216066, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37576554
6.
Modeling Patient-Specific Muscular Dystrophy Phenotypes and Therapeutic Responses in Reprogrammed Myotubes Engineered on Micromolded Gelatin Hydrogels.
Front Cell Dev Biol
; 10: 830415, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35465312
7.
Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue.
Commun Biol
; 5(1): 989, 2022 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36123393
8.
Translational research and therapeutic perspectives in dysferlinopathies.
Mol Med
; 17(9-10): 875-82, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21556485
9.
Quantitative immuno-mass spectrometry imaging of skeletal muscle dystrophin.
Sci Rep
; 11(1): 1128, 2021 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33441839
10.
Enhanced Methods for Needle Biopsy and Cryopreservation of Skeletal Muscle in Older Adults.
J Cytol Histol
; 11(2)2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32566369
11.
Targeting RyR Activity Boosts Antisense Exon 44 and 45 Skipping in Human DMD Skeletal or Cardiac Muscle Culture Models.
Mol Ther Nucleic Acids
; 18: 580-589, 2019 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31678734
12.
Large in-frame 5' deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature.
Neuromuscul Disord
; 29(11): 863-873, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31672265
13.
Personalized gene and cell therapy for Duchenne Muscular Dystrophy.
Neuromuscul Disord
; 28(10): 803-824, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30224293
14.
Editorial: Personalized medicine for neuromuscular disorders.
Front Cell Dev Biol
; 11: 1329048, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38033860
15.
Validation and Detection of Exon Skipping Boosters in DMD Patient Cell Models and mdx Mouse.
Methods Mol Biol
; 1828: 309-326, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30171550
16.
Dysferlin Exon 32 Skipping in Patient Cells.
Methods Mol Biol
; 1828: 489-496, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30171562
17.
Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet.
J Neuromuscul Dis
; 5(1): 21-28, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29480214
18.
Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells.
J Neuromuscul Dis
; 2(3): 281-290, 2015 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27858744
19.
Truncated prelamin A expression in HGPS-like patients: a transcriptional study.
Eur J Hum Genet
; 23(8): 1051-61, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25649378
20.
Therapeutic exon 'switching' for dysferlinopathies?
Eur J Hum Genet
; 18(9): 969-70; author reply 971, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20512160