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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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2
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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3
Genotype–phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin
Genotype–phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin
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Genotype–phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin

Bos, J. Martijn ; Poley, Rainer N. ; Ny, Melissa ; Tester, David J. ; Xu, Xiaolei ; Vatta, Matteo ; Towbin, Jeffrey A. ; Gersh, Bernard J. ; Ommen, Steve R. ; Ackerman, Michael J.

Molecular genetics and metabolism, 2006-05, Vol.88 (1), p.78-85 [Periódico revisado por pares]

United States: Elsevier Inc

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4
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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5
Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern
Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern
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Limb girdle muscular dystrophy type 2G with myopathic-neurogenic motor unit potentials and a novel muscle image pattern

Cotta, Ana ; Paim, Julia Filardi ; da-Cunha-Junior, Antonio Lopes ; Neto, Rafael Xavier ; Nunes, Simone Vilela ; Navarro, Monica Magalhaes ; Valicek, Jaquelin ; Carvalho, Elmano ; Yamamoto, Lydia U ; Almeida, Camila F ; Braz, Shelida Vasconcelos ; Takata, Reinaldo Issao ; Vainzof, Mariz

BMC clinical pathology, 2014-10, Vol.14 (1), p.41-41, Article 41 [Periódico revisado por pares]

England: BioMed Central Ltd

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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
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
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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9
Specific interaction of the potassium channel β-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system
Specific interaction of the potassium channel β-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system
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Specific interaction of the potassium channel β-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system

Furukawa, Tetsushi ; Ono, Yasuko ; Tsuchiya, Hiroyuki ; Katayama, Yoshifumi ; Bang, Marie-Louise ; Labeit, Dietmar ; Labeit, Siegfried ; Inagaki, Nobuya ; Gregorio, Carol C

Journal of molecular biology, 2001-11, Vol.313 (4), p.775-784 [Periódico revisado por pares]

England: Elsevier Ltd

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10
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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