Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
11 |
Material Type: Artigo
|
Cardiac sodium channel Na(v)1.5 and interacting proteins: Physiology and pathophysiologyAbriel, HuguesJournal of molecular and cellular cardiology, 2010-01, Vol.48 (1), p.2-11 [Periódico revisado por pares]EnglandTexto completo disponível |
|
12 |
Material Type: Artigo
|
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular NoncompactionHastings, Robert ; de Villiers, Carin P ; Hooper, Charlotte ; Ormondroyd, Liz ; Pagnamenta, Alistair ; Lise, Stefano ; Salatino, Silvia ; Knight, Samantha J.L ; Taylor, Jenny C ; Thomson, Kate L ; Arnold, Linda ; Chatziefthimiou, Spyros D ; Konarev, Petr V ; Wilmanns, Matthias ; Ehler, Elisabeth ; Ghisleni, Andrea ; Gautel, Mathias ; Blair, Edward ; Watkins, Hugh ; Gehmlich, KatjaCirculation. Cardiovascular genetics, 2016-10, Vol.9 (5), p.426-435 [Periódico revisado por pares]United States: American Heart Association, IncTexto completo disponível |
|
13 |
Material Type: Artigo
|
Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular centerHuang, Kun ; Li, Qiu-Xiang ; Duan, Hui-Qian ; Luo, Yue-Bei ; Bi, Fang-Fang ; Yang, HuanNeurogenetics, 2022, Vol.23 (1), p.37-44 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
|
14 |
Material Type: Artigo
|
Telethonin-deficiency initially presenting as a congenital muscular dystrophyFerreiro, Ana ; Mezmezian, Monica ; Olivé, Montse ; Herlicoviez, Danielle ; Fardeau, Michel ; Richard, Pascale ; Romero, Norma BeatrizNeuromuscular disorders : NMD, 2011-06, Vol.21 (6), p.433-438 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
|
15 |
Material Type: Artigo
|
Rare diagnosis of telethoninopathy (LGMD2G) in a turkish patientIkenberg, Elena ; Karin, Ivan ; Ertl-Wagner, Birgit ; Abicht, Angela ; Bulst, Stefanie ; Sabine, Krause ; Schoser, Benedikt ; Reilich, Peter ; Walter, Maggie CNeuromuscular disorders : NMD, 2017-09, Vol.27 (9), p.856-860 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
|
16 |
Material Type: Artigo
|
Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathyToste, Alexandra ; Perrot, Andreas ; Özcelik, Cemil ; Cardim, NunoRevista portuguesa de cardiologia, 2020-06, Vol.39 (6), p.317-327 [Periódico revisado por pares]Elsevier España, S.L.UTexto completo disponível |
|
17 |
Material Type: Artigo
|
Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathyToste, Alexandra ; Perrot, Andreas ; Özcelik, Cemil ; Cardim, NunoRevista portuguesa de cardiologia (English ed.), 2020-06, Vol.39 (6), p.317-327 [Periódico revisado por pares]Elsevier España, S.L.UTexto completo disponível |
|
18 |
Material Type: Artigo
|
Genotype–phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethoninBos, J. Martijn ; Poley, Rainer N. ; Ny, Melissa ; Tester, David J. ; Xu, Xiaolei ; Vatta, Matteo ; Towbin, Jeffrey A. ; Gersh, Bernard J. ; Ommen, Steve R. ; Ackerman, Michael J.Molecular genetics and metabolism, 2006-05, Vol.88 (1), p.78-85 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
|
19 |
Material Type: Artigo
|
Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractionsde Fuenmayor-Fernández de la Hoz, Carlos Pablo ; Hernández-Laín, Aurelio ; Olivé, Montse ; Fernández-Marmiesse, Ana ; Domínguez-González, CristinaNeuromuscular disorders : NMD, 2016-11, Vol.26 (11), p.749-753 [Periódico revisado por pares]England: Elsevier B.VTexto completo disponível |
|
20 |
Material Type: Artigo
|
Localization of Sarcomeric Proteins During Myofibril Assembly in Cultured Mouse Primary Skeletal MyotubesWhite, Jennifer ; Barro, Marietta V. ; Makarenkova, Helen P. ; Sanger, Joseph W. ; Sanger, Jean M.Anatomical record (Hoboken, N.J. : 2007), 2014-09, Vol.297 (9), p.1571-1584 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |