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1
Nesprin-2 is a novel scaffold protein for telethonin and FHL-2 in the cardiomyocyte sarcomere
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
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature
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A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature

Brusa, Roberta ; Magri, Francesca ; Papadimitriou, Dimitra ; Govoni, Alessandra ; Del Bo, Roberto ; Ciscato, Patrizia ; Savarese, Marco ; Cinnante, Claudia ; Walter, Maggie C. ; Abicht, Angela ; Bulst, Stefanie ; Corti, Stefania ; Moggio, Maurizio ; Bresolin, Nereo ; Nigro, Vincenzo ; Comi, Giacomo Pietro

Neuromuscular disorders : NMD, 2018-06, Vol.28 (6), p.532-537 [Periódico revisado por pares]

England: Elsevier B.V

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3
Cardiac sodium channel Na(v)1.5 and interacting proteins: Physiology and pathophysiology
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
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
Rare diagnosis of telethoninopathy (LGMD2G) in a turkish patient
Rare diagnosis of telethoninopathy (LGMD2G) in a turkish patient
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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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6
Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy
Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy
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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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7
Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy
Identification of a novel titin-cap/telethonin mutation in a Portuguese family with hypertrophic cardiomyopathy
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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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8
Genotype–phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin
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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9
Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions
Novel mutation in TCAP manifesting with asymmetric calves and early-onset joint retractions
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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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10
Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G
Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G
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Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G

Barresi, Rita ; Morris, Charlotte ; Hudson, Judith ; Curtis, Elizabeth ; Pickthall, Clare ; Bushby, Kate ; Davies, Nicholas P ; Straub, Volker

Neuromuscular disorders : NMD, 2015-04, Vol.25 (4), p.349-352 [Periódico revisado por pares]

England: Elsevier B.V

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