Detalhe da pesquisa
1.
Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology.
Am J Pathol
; 193(10): 1548-1567, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37419385
2.
Aberrations in Energetic Metabolism and Stress-Related Pathways Contribute to Pathophysiology in the Neb Conditional Knockout Mouse Model of Nemaline Myopathy.
Am J Pathol
; 193(10): 1528-1547, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37422147
3.
Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.
Acta Neuropathol
; 147(1): 72, 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38634969
4.
ACTA1 H40Y mutant iPSC-derived skeletal myocytes display mitochondrial defects in an in vitro model of nemaline myopathy.
Exp Cell Res
; 424(2): 113507, 2023 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36796746
5.
Cardiomyocyte-produced miR-339-5p mediates pathology in Duchenne muscular dystrophy cardiomyopathy.
Hum Mol Genet
; 30(23): 2347-2361, 2021 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34270708
6.
The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats.
J Inherit Metab Dis
; 44(2): 492-501, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368311
7.
Cardioprotective effect of nicorandil on isoproterenol induced cardiomyopathy in the Mdx mouse model.
BMC Cardiovasc Disord
; 21(1): 302, 2021 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34130633
8.
AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy.
Mol Ther
; 28(2): 382-393, 2020 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31784415
9.
Regulatory T Cells Contribute to Resistance against Lyme Arthritis.
Infect Immun
; 88(11)2020 10 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32778610
10.
TNNT1 nemaline myopathy: natural history and therapeutic frontier.
Hum Mol Genet
; 27(18): 3272-3282, 2018 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29931346
11.
Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice.
Hum Mol Genet
; 27(4): 638-648, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29293963
12.
Conference report on contractures in musculoskeletal and neurological conditions.
Muscle Nerve
; 61(6): 740-744, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32108365
13.
Disease burden of Crigler-Najjar syndrome: Systematic review and future perspectives.
J Gastroenterol Hepatol
; 35(4): 530-543, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31495946
14.
Ganglioglioma in a Survivor of Infantile Glioblastoma.
J Pediatr Hematol Oncol
; 42(1): e56-e60, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30676438
15.
Phosphatidylinositol 3-kinase inhibition restores Ca2+ release defects and prolongs survival in myotubularin-deficient mice.
Proc Natl Acad Sci U S A
; 113(50): 14432-14437, 2016 12 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-27911767
16.
Use Of Ankle Immobilization In Evaluating Treatments To Promote Longitudinal Muscle Growth In Mice.
Muscle Nerve
; 58(5): 718-725, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29981243
17.
Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs.
Mol Ther
; 25(4): 839-854, 2017 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28237839
18.
Diaphragm Atrophy and Weakness in the Absence of Mitochondrial Dysfunction in the Critically Ill.
Am J Respir Crit Care Med
; 196(12): 1544-1558, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28787181
19.
Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy.
Hum Mol Genet
; 24(18): 5219-33, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26123491
20.
Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy.
Am J Pathol
; 186(6): 1568-81, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27102768