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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
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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2
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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3
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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4
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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5
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
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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6
A pilot study of muscle plasma protein changes after exercise
A pilot study of muscle plasma protein changes after exercise
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A pilot study of muscle plasma protein changes after exercise

Dahlqvist, Julia R. ; Voss, Line G. ; Lauridsen, Thomas ; Krag, Thomas O. ; Vissing, John

Muscle & nerve, 2014-02, Vol.49 (2), p.261-266 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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7
Muscle Phenotypic Variability in Limb Girdle Muscular Dystrophy 2 G
Muscle Phenotypic Variability in Limb Girdle Muscular Dystrophy 2 G
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Muscle Phenotypic Variability in Limb Girdle Muscular Dystrophy 2 G

Paim, Julia F. ; Cotta, Ana ; Vargas, Antonio P. ; Navarro, Monica M. ; Valicek, Jaquelin ; Carvalho, Elmano ; da-Cunha-Junior, Antonio L. ; Plentz, Estevão ; Braz, Shelida V. ; Takata, Reinaldo I. ; Almeida, Camila F. ; Vainzof, Mariz

Journal of molecular neuroscience, 2013-06, Vol.50 (2), p.339-344 [Periódico revisado por pares]

New York: Humana Press Inc

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8
Limb–Girdle and Congenital Muscular Dystrophies: Current Diagnostics, Management, and Emerging Technologies
Limb–Girdle and Congenital Muscular Dystrophies: Current Diagnostics, Management, and Emerging Technologies
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Limb–Girdle and Congenital Muscular Dystrophies: Current Diagnostics, Management, and Emerging Technologies

Tesi Rocha, Carolina ; Hoffman, Eric P.

Current neurology and neuroscience reports, 2010-07, Vol.10 (4), p.267-276 [Periódico revisado por pares]

New York: Current Science Inc

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9
A ZASP Missense Mutation, S196L, Leads to Cytoskeletal and Electrical Abnormalities in a Mouse Model of Cardiomyopathy
A ZASP Missense Mutation, S196L, Leads to Cytoskeletal and Electrical Abnormalities in a Mouse Model of Cardiomyopathy
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A ZASP Missense Mutation, S196L, Leads to Cytoskeletal and Electrical Abnormalities in a Mouse Model of Cardiomyopathy

Li, Zhaohui ; Ai, Tomohiko ; Samani, Kaveh ; Xi, Yutao ; Tzeng, Huei-Ping ; Xie, Mingxing ; Wu, Shan ; Ge, Shuping ; Taylor, Michael D ; Dong, Jian-Wen ; Cheng, Jie ; Ackerman, Michael J ; Kimura, Akinori ; Sinagra, Gianfranco ; Brunelli, Luca ; Faulkner, Georgine ; Vatta, Matteo

Circulation. Arrhythmia and electrophysiology, 2010-12, Vol.3 (6), p.646-656 [Periódico revisado por pares]

Hagerstown, MD: American Heart Association, Inc

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10
Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin
Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin
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Two immunoglobulin-like domains of the Z-disc portion of titin interact in a conformation-dependent way with telethonin

Mues, Alexander ; van der Ven, Peter F.M ; Young, Paul ; Fürst, Dieter O ; Gautel, Mathias

FEBS letters, 1998-05, Vol.428 (1), p.111-114 [Periódico revisado por pares]

England: Elsevier B.V

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