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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
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
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
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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6
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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7
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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8
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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9
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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10
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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