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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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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
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
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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5
Titin Mutations as the Molecular Basis for Dilated Cardiomyopathy
Titin Mutations as the Molecular Basis for Dilated Cardiomyopathy
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Titin Mutations as the Molecular Basis for Dilated Cardiomyopathy

Itoh-Satoh, Manatsu ; Hayashi, Takeharu ; Nishi, Hirofumi ; Koga, Yoshinori ; Arimura, Takuro ; Koyanagi, Takeshi ; Takahashi, Megumi ; Hohda, Shigeru ; Ueda, Kazuo ; Nouchi, Tatsuhito ; Hiroe, Michiaki ; Marumo, Fumiaki ; Imaizumi, Tsutomu ; Yasunami, Michio ; Kimura, Akinori

Biochemical and biophysical research communications, 2002-02, Vol.291 (2), p.385-393 [Periódico revisado por pares]

United States: Elsevier Inc

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6
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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7
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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8
Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene
Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene
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Limb-girdle muscular dystrophy in a Portuguese patient caused by a mutation in the telethonin gene

Negrão, L ; Matos, A ; Geraldo, A ; Rebelo, O

Acta myologica, 2010-07, Vol.29 (1), p.21-24 [Periódico revisado por pares]

Italy: Pacini Editore SpA

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9
Telethonin protein expression in neuromuscular disorders
Telethonin protein expression in neuromuscular disorders
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Telethonin protein expression in neuromuscular disorders

Vainzof, Mariz ; Moreira, Eloisa S ; Suzuki, Oscar T ; Faulkner, Georgine ; Valle, Georgio ; Beggs, Alan H ; Carpen, Olli ; Ribeiro, Alberto F ; Zanoteli, Edmar ; Gurgel-Gianneti, Juliana ; Tsanaclis, Ana Maria ; Silva, Helga C.A ; Passos-Bueno, Maria Rita ; Zatz, Mayana

Biochimica et biophysica acta. Molecular basis of disease, 2002-10, Vol.1588 (1), p.33-40 [Periódico revisado por pares]

Elsevier B.V

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10
Maintenance of muscle mass, fiber size, and contractile function in mice lacking the Z-disc protein myotilin
Maintenance of muscle mass, fiber size, and contractile function in mice lacking the Z-disc protein myotilin
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Maintenance of muscle mass, fiber size, and contractile function in mice lacking the Z-disc protein myotilin

Ochala, Julien ; Carpén, Olli ; Larsson, Lars

Upsala Journal of Medical Sciences, 2009-01, Vol.114 (4), p.235-241 [Periódico revisado por pares]

England: Informa UK Ltd

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