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Muscle ultrastructure and histopathological findings in a Brazilian single-centre series of genetically classified telethoninopathy patients
Muscle ultrastructure and histopathological findings in a Brazilian single-centre series of genetically classified telethoninopathy patients
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Muscle ultrastructure and histopathological findings in a Brazilian single-centre series of genetically classified telethoninopathy patients

Cotta, Ana ; Carvalho, Elmano ; da-Cunha-Júnior, Antonio Lopes ; da Silveira, Eni Braga ; Cordeiro, Bruno Arrivabene ; Lima, Maria Isabel ; Navarro, Monica Machado ; Godinho, Frederico ; Valicek, Jaquelin ; Menezes, Miriam Melo ; Nunes-Neves, Simone Vilela ; Vargas, Antonio Pedro ; da-Silva-Neto, Rafael Xavier ; Costa-e-Silva, Cynthia ; Takata, Reinaldo Issao ; Cauhi, Alexandre Faleiros ; Paim, Julia Filardi ; Vainzof, Mariz

Surgical and experimental pathology, 2024-08, Vol.7 (1), p.1-35, Article 12 [Periódico revisado por pares]

BMC

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2
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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3
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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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
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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6
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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7
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

Uppsala universitet, Kardiologi 2021

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8
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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9
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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10
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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