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11
Cardiac sodium channel Na(v)1.5 and interacting proteins: Physiology and pathophysiology
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Artigo
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Cardiac sodium channel Na(v)1.5 and interacting proteins: Physiology and pathophysiology

Abriel, Hugues

Journal of molecular and cellular cardiology, 2010-01, Vol.48 (1), p.2-11 [Periódico revisado por pares]

England

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12
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 Noncompaction
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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 Noncompaction

Hastings, 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, Katja

Circulation. Cardiovascular genetics, 2016-10, Vol.9 (5), p.426-435 [Periódico revisado por pares]

United States: American Heart Association, Inc

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13
Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center
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Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center

Huang, Kun ; Li, Qiu-Xiang ; Duan, Hui-Qian ; Luo, Yue-Bei ; Bi, Fang-Fang ; Yang, Huan

Neurogenetics, 2022, Vol.23 (1), p.37-44 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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14
Telethonin-deficiency initially presenting as a congenital muscular dystrophy
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Artigo
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Telethonin-deficiency initially presenting as a congenital muscular dystrophy

Ferreiro, Ana ; Mezmezian, Monica ; Olivé, Montse ; Herlicoviez, Danielle ; Fardeau, Michel ; Richard, Pascale ; Romero, Norma Beatriz

Neuromuscular disorders : NMD, 2011-06, Vol.21 (6), p.433-438 [Periódico revisado por pares]

England: Elsevier B.V

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15
Rare diagnosis of telethoninopathy (LGMD2G) in a turkish patient
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Artigo
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Rare diagnosis of telethoninopathy (LGMD2G) in a turkish patient

Ikenberg, Elena ; Karin, Ivan ; Ertl-Wagner, Birgit ; Abicht, Angela ; Bulst, Stefanie ; Sabine, Krause ; Schoser, Benedikt ; Reilich, Peter ; Walter, Maggie C

Neuromuscular disorders : NMD, 2017-09, Vol.27 (9), p.856-860 [Periódico revisado por pares]

England: Elsevier B.V

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16
Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy
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Artigo
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Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy

Toste, Alexandra ; Perrot, Andreas ; Özcelik, Cemil ; Cardim, Nuno

Revista portuguesa de cardiologia, 2020-06, Vol.39 (6), p.317-327 [Periódico revisado por pares]

Elsevier España, S.L.U

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17
Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy
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Artigo
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Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy

Toste, Alexandra ; Perrot, Andreas ; Özcelik, Cemil ; Cardim, Nuno

Revista portuguesa de cardiologia (English ed.), 2020-06, Vol.39 (6), p.317-327 [Periódico revisado por pares]

Elsevier España, S.L.U

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18
Genotype–phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin
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Artigo
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Genotype–phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin

Bos, 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 Inc

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19
Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions
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Artigo
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Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions

de Fuenmayor-Fernández de la Hoz, Carlos Pablo ; Hernández-Laín, Aurelio ; Olivé, Montse ; Fernández-Marmiesse, Ana ; Domínguez-González, Cristina

Neuromuscular disorders : NMD, 2016-11, Vol.26 (11), p.749-753 [Periódico revisado por pares]

England: Elsevier B.V

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20
Localization of Sarcomeric Proteins During Myofibril Assembly in Cultured Mouse Primary Skeletal Myotubes
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Localization of Sarcomeric Proteins During Myofibril Assembly in Cultured Mouse Primary Skeletal Myotubes

White, 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, Inc

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