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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
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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4
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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5
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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6
Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center
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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7
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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8
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
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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9
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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10
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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