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Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Na v 1.5 currents in HEK-293 cells
Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Na v 1.5 currents in HEK-293 cells
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Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Na v 1.5 currents in HEK-293 cells

Turker, Isik ; Makiyama, Takeru ; Ueyama, Takeshi ; Shimizu, Akihiko ; Yamakawa, Masaru ; Chen, Peng-Sheng ; Vatta, Matteo ; Horie, Minoru ; Ai, Tomohiko

Pacing and clinical electrophysiology, 2020-08, Vol.43 (8), p.838-846 [Periódico revisado por pares]

United States

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2
Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Nav 1.5 currents in HEK-293 cells
Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Nav 1.5 currents in HEK-293 cells
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Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Nav 1.5 currents in HEK-293 cells

Turker, Isik ; Makiyama, Takeru ; Ueyama, Takeshi ; Shimizu, Akihiko ; Yamakawa, Masaru ; Chen, Peng-Sheng ; Vatta, Matteo ; Horie, Minoru ; Ai, Tomohiko

Pacing and clinical electrophysiology, 2020-08, Vol.43 (8), p.838-846 [Periódico revisado por pares]

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3
Influence of V54M mutation in giant muscle protein titin: a computational screening and molecular dynamics approach
Influence of V54M mutation in giant muscle protein titin: a computational screening and molecular dynamics approach
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Influence of V54M mutation in giant muscle protein titin: a computational screening and molecular dynamics approach

Thirumal Kumar, D. ; George Priya Doss, C. ; Sneha, P. ; Tayubi, Iftikhar Aslam ; Siva, R. ; Chakraborty, Chiranjib ; Magesh, R.

Journal of biomolecular structure & dynamics, 2017-04, Vol.35 (5), p.917-928 [Periódico revisado por pares]

England: Taylor & Francis

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4
Phosphorylation at Serines 157 and 161 Is Necessary for Preserving Cardiac Expression Level and Functions of Sarcomeric Z-Disc Protein Telethonin
Phosphorylation at Serines 157 and 161 Is Necessary for Preserving Cardiac Expression Level and Functions of Sarcomeric Z-Disc Protein Telethonin
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Phosphorylation at Serines 157 and 161 Is Necessary for Preserving Cardiac Expression Level and Functions of Sarcomeric Z-Disc Protein Telethonin

Lewis, Hannah R ; Eminaga, Seda ; Gautel, Mathias ; Avkiran, Metin

Frontiers in physiology, 2021-09, Vol.12, p.732020-732020 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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5
Cytoskeletal protein kinases: titin and its relations in mechanosensing
Cytoskeletal protein kinases: titin and its relations in mechanosensing
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Cytoskeletal protein kinases: titin and its relations in mechanosensing

Gautel, Mathias

Pflügers Archiv, 2011-07, Vol.462 (1), p.119-134 [Periódico revisado por pares]

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6
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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7
The Role of Z-disc Proteins in Myopathy and Cardiomyopathy
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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8
Telethonin variants found in Brugada syndrome, J‐wave pattern ECG, and ARVC reduce peak Nav1.5 currents in HEK‐293 cells
Telethonin variants found in Brugada syndrome, J‐wave pattern ECG, and ARVC reduce peak Nav1.5 currents in HEK‐293 cells
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Telethonin variants found in Brugada syndrome, J‐wave pattern ECG, and ARVC reduce peak Nav1.5 currents in HEK‐293 cells

Turker, Isik ; Makiyama, Takeru ; Ueyama, Takeshi ; Shimizu, Akihiko ; Yamakawa, Masaru ; Chen, Peng‐Sheng ; Vatta, Matteo ; Horie, Minoru ; Ai, Tomohiko

Pacing and clinical electrophysiology, 2020-08, Vol.43 (8), p.838-846 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc

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9
Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant
Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant
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Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant

Jiang, He ; Hooper, Charlotte ; Kelly, Matthew ; Steeples, Violetta ; Simon, Jillian N. ; Beglov, Julia ; Azad, Amar J. ; Leinhos, Lisa ; Bennett, Pauline ; Ehler, Elisabeth ; Kalisch-Smith, Jacinta I. ; Sparrow, Duncan B. ; Fischer, Roman ; Heilig, Raphael ; Isackson, Henrik ; Ehsan, Mehroz ; Patone, Giannino ; Huebner, Norbert ; Davies, Benjamin ; Watkins, Hugh ; Gehmlich, Katja

Basic research in cardiology, 2021-12, Vol.116 (1), p.14, Article 14 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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10
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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