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Refinado por: assunto: Muscle Proteins - Genetics remover
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1
Nesprin-2 is a novel scaffold protein for telethonin and FHL-2 in the cardiomyocyte sarcomere
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Nesprin-2 is a novel scaffold protein for telethonin and FHL-2 in the cardiomyocyte sarcomere

Li, Chen ; Warren, Derek T. ; Zhou, Can ; De Silva, Shanelle ; Wilson, Darren G.S. ; Garcia-Maya, Mitla ; Wheeler, Matthew A. ; Meinke, Peter ; Sawyer, Greta ; Ehler, Elisabeth ; Wehnert, Manfred ; Rao, Li ; Zhang, Qiuping ; Shanahan, Catherine M.

The Journal of biological chemistry, 2024-05, Vol.300 (5), p.107254-107254, Article 107254 [Periódico revisado por pares]

United States: Elsevier Inc

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2
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy
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The Role of Z-disc Proteins in Myopathy and Cardiomyopathy

Wadmore, Kirsty ; Azad, Amar J ; Gehmlich, Katja

International journal of molecular sciences, 2021-03, Vol.22 (6), p.3058 [Periódico revisado por pares]

Switzerland: MDPI AG

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3
Cardiac sodium channel Na(v)1.5 and interacting proteins: Physiology and pathophysiology
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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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4
Telethonin-deficiency initially presenting as a congenital muscular dystrophy
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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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5
Genotype–phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin
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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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6
Titin Mutations as the Molecular Basis for Dilated Cardiomyopathy
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Titin Mutations as the Molecular Basis for Dilated Cardiomyopathy

Itoh-Satoh, Manatsu ; Hayashi, Takeharu ; Nishi, Hirofumi ; Koga, Yoshinori ; Arimura, Takuro ; Koyanagi, Takeshi ; Takahashi, Megumi ; Hohda, Shigeru ; Ueda, Kazuo ; Nouchi, Tatsuhito ; Hiroe, Michiaki ; Marumo, Fumiaki ; Imaizumi, Tsutomu ; Yasunami, Michio ; Kimura, Akinori

Biochemical and biophysical research communications, 2002-02, Vol.291 (2), p.385-393 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
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Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

Reeves, Roger ; Faulkner, Georgine ; Wiltshire, Tim J ; Vainzof, Mariz ; Valle, Giorgio ; Moreira, Eloisa S ; Nilforoushan, Antje ; Passos-Bueno, M. R ; Suzuki, Oscar T ; Jenne, Dieter E ; Zatz, Mayana

Nature genetics, 2000-02, Vol.24 (2), p.163-166 [Periódico revisado por pares]

London: Nature Publishing Group

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8
Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient
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Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient

Olivé, Montse ; Shatunov, Alexey ; Gonzalez, Laura ; Carmona, Olga ; Moreno, Dolores ; Quereda, Lidia Gonzalez ; Martinez-Matos, J.A ; Goldfarb, Lev G ; Ferrer, Isidro

Neuromuscular disorders : NMD, 2008-12, Vol.18 (12), p.929-933 [Periódico revisado por pares]

England: Elsevier B.V

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9
Specific interaction of the potassium channel β-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system
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Specific interaction of the potassium channel β-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system

Furukawa, Tetsushi ; Ono, Yasuko ; Tsuchiya, Hiroyuki ; Katayama, Yoshifumi ; Bang, Marie-Louise ; Labeit, Dietmar ; Labeit, Siegfried ; Inagaki, Nobuya ; Gregorio, Carol C

Journal of molecular biology, 2001-11, Vol.313 (4), p.775-784 [Periódico revisado por pares]

England: Elsevier Ltd

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10
Distinct roles for telethonin N‐versus C‐terminus in sarcomere assembly and maintenance
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Distinct roles for telethonin N‐versus C‐terminus in sarcomere assembly and maintenance

Sadikot, Takrima ; Hammond, Courtney R. ; Ferrari, Michael B.

Developmental dynamics, 2010-04, Vol.239 (4), p.1124-1135 [Periódico revisado por pares]

New York: Wiley‐Liss, Inc

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