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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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2
Cardiac sodium channel Na(v)1.5 and interacting proteins: Physiology and pathophysiology
Cardiac sodium channel Na(v)1.5 and interacting proteins: Physiology and pathophysiology
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Cardiac sodium channel Na(v)1.5 and interacting proteins: Physiology and pathophysiology

Abriel, Hugues

Journal of molecular and cellular cardiology, 2010-01, Vol.48 (1), p.2-11 [Periódico revisado por pares]

England

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3
Telethonin-deficiency initially presenting as a congenital muscular dystrophy
Telethonin-deficiency initially presenting as a congenital muscular dystrophy
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Telethonin-deficiency initially presenting as a congenital muscular dystrophy

Ferreiro, Ana ; Mezmezian, Monica ; Olivé, Montse ; Herlicoviez, Danielle ; Fardeau, Michel ; Richard, Pascale ; Romero, Norma Beatriz

Neuromuscular disorders : NMD, 2011-06, Vol.21 (6), p.433-438 [Periódico revisado por pares]

England: Elsevier B.V

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4
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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5
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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6
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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7
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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8
Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G
Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G
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Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G

Barresi, Rita ; Morris, Charlotte ; Hudson, Judith ; Curtis, Elizabeth ; Pickthall, Clare ; Bushby, Kate ; Davies, Nicholas P ; Straub, Volker

Neuromuscular disorders : NMD, 2015-04, Vol.25 (4), p.349-352 [Periódico revisado por pares]

England: Elsevier B.V

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9
TCAP knockdown by RNA interference inhibits myoblast differentiation in cultured skeletal muscle cells
TCAP knockdown by RNA interference inhibits myoblast differentiation in cultured skeletal muscle cells
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TCAP knockdown by RNA interference inhibits myoblast differentiation in cultured skeletal muscle cells

Markert, Chad D ; Ning, Jie ; Staley, Jerry T ; Heinzke, Laura ; Childers, Charles K ; Ferreira, J. Andries ; Brown, Marybeth ; Stoker, Aaron ; Okamura, Carol ; Childers, Martin K

Neuromuscular disorders : NMD, 2008-05, Vol.18 (5), p.413-422 [Periódico revisado por pares]

England: Elsevier B.V

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