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1.
Synergistic effect on cardiac energetics by targeting the creatine kinase system: in vivo application of high-resolution 31P-CMRS in the mouse.
J Cardiovasc Magn Reson
; 25(1): 6, 2023 02 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36740688
2.
Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.
Am J Med Genet C Semin Med Genet
; 181(4): 638-643, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31714006
3.
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Am J Med Genet C Semin Med Genet
; 181(4): 557-564, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31721432
4.
Fractal Analysis of Right Ventricular Trabeculae in Pulmonary Hypertension.
Radiology
; 288(2): 386-395, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29869959
5.
A role for thioredoxin-interacting protein (Txnip) in cellular creatine homeostasis.
Am J Physiol Endocrinol Metab
; 305(2): E263-70, 2013 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-23715727
6.
Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
medRxiv
; 2023 Apr 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-37066275
7.
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Genome Med
; 15(1): 86, 2023 10 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-37872640
8.
Chronic creatine kinase deficiency eventually leads to congestive heart failure, but severity is dependent on genetic background, gender and age.
Basic Res Cardiol
; 107(5): 276, 2012 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-22760499
9.
Subtle Role for Adenylate Kinase 1 in Maintaining Normal Basal Contractile Function and Metabolism in the Murine Heart.
Front Physiol
; 12: 623969, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33867998
10.
Over-expression of mitochondrial creatine kinase in the murine heart improves functional recovery and protects against injury following ischaemia-reperfusion.
Cardiovasc Res
; 114(6): 858-869, 2018 05 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29509881
11.
Increasing creatine kinase activity protects against hypoxia / reoxygenation injury but not against anthracycline toxicity in vitro.
PLoS One
; 12(8): e0182994, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-28806770
12.
Moderate elevation of intracellular creatine by targeting the creatine transporter protects mice from acute myocardial infarction.
Cardiovasc Res
; 96(3): 466-75, 2012 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-22915766
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