| Nome |
# |
|
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study, file e0feeaa5-14ad-44d2-e053-6605fe0a8db0
|
165
|
|
A novel type 2 diabetes risk allele increases the promoter activity of the muscle-specific small ankyrin 1 gene, file e0feeaa6-0d55-44d2-e053-6605fe0a8db0
|
154
|
|
Murine obscurin and Obsl1 have functionally redundant roles in sarcolemmal integrity, sarcoplasmic reticulum organization, and muscle metabolism, file e0feeaa8-305e-44d2-e053-6605fe0a8db0
|
145
|
|
A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy, file e0feeaa6-e075-44d2-e053-6605fe0a8db0
|
142
|
|
Bcl-2 binds to and inhibits ryanodine receptors, file e0feeaa5-1019-44d2-e053-6605fe0a8db0
|
132
|
|
Functional electrical stimulation: A possible strategy to improve muscle function in central core disease?, file e0feeaa8-3305-44d2-e053-6605fe0a8db0
|
121
|
|
Calcium Homeostasis Is Modified in Skeletal Muscle Fibers of Small Ankyrin1 Knockout Mice, file e0feeaa8-35bb-44d2-e053-6605fe0a8db0
|
112
|
|
Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy, file cd1fefb3-c7d4-42e4-9973-b59863205636
|
89
|
|
Impaired Intracellular Ca2+ Dynamics, M-Band and Sarcomere Fragility in Skeletal Muscles of Obscurin KO Mice, file e0feeaaa-fd57-44d2-e053-6605fe0a8db0
|
83
|
|
Sorcin is an early marker of neurodegeneration, Ca2+ dysregulation and endoplasmic reticulum stress associated to neurodegenerative diseases, file e0feeaa9-b520-44d2-e053-6605fe0a8db0
|
80
|
|
Ryanodine receptors are targeted by anti-apoptotic Bcl-XL involving its BH4 domain and Lys87 from its BH3 domain, file e0feeaa5-5ffd-44d2-e053-6605fe0a8db0
|
78
|
|
European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility, file e0feeaa8-18b5-44d2-e053-6605fe0a8db0
|
66
|
|
Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies, file 24d0900a-147f-48ae-a26f-2aca08fd08ca
|
28
|
|
Tissue-Specific Cultured Human Pericytes: Perivascular Cells from Smooth Muscle Tissue Have Restricted Mesodermal Differentiation Ability, file e0feeaab-be3f-44d2-e053-6605fe0a8db0
|
24
|
|
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy, file e0feeaab-9809-44d2-e053-6605fe0a8db0
|
23
|
|
Loss-of-rescue of Ryr1I4895T-related pathology by the genetic inhibition of the ER stress response mediator CHOP, file 61349063-6370-4fa2-a1d6-b646304ac5d4
|
20
|
|
Skeletal muscle overexpression of sAnk1.5 in transgenic mice does not predispose to type 2 diabetes, file c1196dd7-5e0d-44e2-ab7a-2d48074efaac
|
20
|
|
The Sarcoplasmic Reticulum of Skeletal Muscle Cells: A Labyrinth of Membrane Contact Sites, file e0feeaab-adae-44d2-e053-6605fe0a8db0
|
20
|
|
Not all pericytes are born equal: Pericytes from human adult tissues present different differentiation properties, file e0feeaab-da49-44d2-e053-6605fe0a8db0
|
8
|
|
Mesenchymal stem cells: from the perivascular environment to clinical applications, file e0feeaa7-faba-44d2-e053-6605fe0a8db0
|
6
|
|
Not all pericytes are born equal: Pericytes from human adult tissues present different differentiation properties, file e0feeaa6-093c-44d2-e053-6605fe0a8db0
|
4
|
|
Exercise-induced alterations and loss of sarcomeric M-line organization in the diaphragm muscle of obscurin knockout mice, file e0feeaa6-15e5-44d2-e053-6605fe0a8db0
|
4
|
|
A novel homozygous mutation in the TRDN gene causes a severe form of pediatric malignant ventricular arrhythmia, file e0feeaa8-b117-44d2-e053-6605fe0a8db0
|
4
|
|
Multiple regions within junctin drive its interaction with calsequestrin-1 and its localization to triads in skeletal muscle, file e0feeaab-73d4-44d2-e053-6605fe0a8db0
|
4
|
|
Reduced levels of putative endothelial progenitor and CXCR4+ cells in coronary artery disease: kinetics following percutaneous coronary intervention and association with clinical characteristics., file e0feeaa4-e6f4-44d2-e053-6605fe0a8db0
|
3
|
|
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates, file e0feeaa5-767a-44d2-e053-6605fe0a8db0
|
3
|
|
The KSR2-calcineurin complex regulates STIM1-ORAI1 dynamics and Store-Operated Calcium Entry (SOCE), file e0feeaa6-2fd5-44d2-e053-6605fe0a8db0
|
3
|
|
Deletion of small ankyrin 1 (sAnk1) isoforms results in structural and functional alterations in aging skeletal muscle fibers, file e0feeaa8-0f97-44d2-e053-6605fe0a8db0
|
3
|
|
In situ activation of the type 2 ryanodine receptor in pancreatic beta-cells requires cAMP-dependent phosphorylation, file e0feeaa4-ce37-44d2-e053-6605fe0a8db0
|
2
|
|
Genomic Structure and Chromosomal Location of the Human TGFb-receptor Interacting Protein-1 (TRIP-1) Gene to 1p34.1, file e0feeaa4-ce38-44d2-e053-6605fe0a8db0
|
2
|
|
Spatially segregated control of Ca2+ release in developing skeletal muscle, file e0feeaa4-ce39-44d2-e053-6605fe0a8db0
|
2
|
|
Multi-potent progenitors in freshly isolated and cultured human mesenchymal stem cells: a comparison between adipose and dermal tissue, file e0feeaa4-e6ed-44d2-e053-6605fe0a8db0
|
2
|
|
Molecular genetics of ryanodine receptors Ca2+-release channels, file e0feeaa4-e7f9-44d2-e053-6605fe0a8db0
|
2
|
|
Distinct regions of triadin are required for targeting and retention at the junctional domain of the sarcoplasmic reticulum, file e0feeaa4-fbc9-44d2-e053-6605fe0a8db0
|
2
|
|
Yip1B isoform is localized at ER-Golgi intermediate and cis-Golgi compartments and is not required for maintenance of the Golgi structure in skeletal muscle, file e0feeaa5-7675-44d2-e053-6605fe0a8db0
|
2
|
|
Compound heterozygosity in the GALC gene in a late onset Iranian patient with spastic paraparesis, peripheral neuropathy and leukoencephalopathy, file e0feeaa6-d870-44d2-e053-6605fe0a8db0
|
2
|
|
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy, file e0feeaa9-ca04-44d2-e053-6605fe0a8db0
|
2
|
|
Organization of junctional sarcoplasmic reticulum proteins in skeletal muscle fibers, file 5d83bc6f-f4df-4c8a-ba91-6a5bc4b7b387
|
1
|
|
Endothelial progenitor cells and colony-forming units in rheumatoid arthritis: association with clinical characteristics., file e0feeaa4-c10d-44d2-e053-6605fe0a8db0
|
1
|
|
Ameliorating effects of the immunomodulator 3-(2-ethylphenyl)-5-(3-methoxyphenyl)-1H-1,2,4-triazole in an experimental model of colitis in the rat, file e0feeaa4-e2c0-44d2-e053-6605fe0a8db0
|
1
|
|
Pluripotency regulators in human mesenchymal stem cells: expression of NANOG but not of OCT-4 and SOX-2, file e0feeaa4-e6f1-44d2-e053-6605fe0a8db0
|
1
|
|
Generalised reduction of putative endothelial progenitors and CXCR4-positive peripheral blood cells in type 2 diabetes., file e0feeaa4-e6fd-44d2-e053-6605fe0a8db0
|
1
|
|
A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres, file e0feeaa4-e702-44d2-e053-6605fe0a8db0
|
1
|
|
Molecular determinants of the structural and functional organization of the sarcoplasmic reticulum, file e0feeaa4-e76d-44d2-e053-6605fe0a8db0
|
1
|
|
A pivotal role for cADPR-mediated Ca2+ signaling: regulation of endothelin-induced contraction in peritubular smooth muscle cells, file e0feeaa4-e77a-44d2-e053-6605fe0a8db0
|
1
|
|
Imperatoxin A (IpTx(a)) from Pandinus imperator stimulates [(3)H]ryanodine binding to RyR3 channels, file e0feeaa4-e77e-44d2-e053-6605fe0a8db0
|
1
|
|
Contribution of ryanodine receptor type 3 to Ca(2+) sparks in embryonic mouse skeletal muscle, file e0feeaa4-e787-44d2-e053-6605fe0a8db0
|
1
|
|
Contractile impairment and structural alterations of skeletal muscles from knockout mice lacking type 1 and type 3 ryanodine receptors, file e0feeaa4-e7f0-44d2-e053-6605fe0a8db0
|
1
|
|
Obscurin is required for ankyrinB-dependent dystrophin localization and sarcolemma integrity, file e0feeaa5-037b-44d2-e053-6605fe0a8db0
|
1
|
|
A proteolytic cleavage to separate the sarcolemma/T-tubule from the sarcoplasmic reticulum, file e0feeaa5-037c-44d2-e053-6605fe0a8db0
|
1
|
|
Cardiac expression of ryanodine receptor subtype 3; a strategic component in the intracellular Ca2 + release system of Purkinje fibers in large mammalian heart, file e0feeaa6-15e3-44d2-e053-6605fe0a8db0
|
1
|
|
The potential of obscurin as a therapeutic target in muscle disorders, file e0feeaa6-e2fb-44d2-e053-6605fe0a8db0
|
1
|
|
Putative endothelial progenitor cells predict long-term mortality in type-2 diabetes, file e0feeaa7-9dd5-44d2-e053-6605fe0a8db0
|
1
|
|
A quantitative assessment of circulating progenitor cells in competitive athletes and in sedentary subjects, file e0feeaa8-0142-44d2-e053-6605fe0a8db0
|
1
|
|
Allele-specific silencing by RNAi of R92Q and R173W mutations in cardiac troponin T, file e0feeaab-00cc-44d2-e053-6605fe0a8db0
|
1
|
|
Calsequestrin, a key protein in striated muscle health and disease, file e0feeaab-4833-44d2-e053-6605fe0a8db0
|
1
|
| Totale |
1.581 |