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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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2
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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3
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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4
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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5
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
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Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin

Reeves, Roger ; Faulkner, Georgine ; Wiltshire, Tim J ; Vainzof, Mariz ; Valle, Giorgio ; Moreira, Eloisa S ; Nilforoushan, Antje ; Passos-Bueno, M. R ; Suzuki, Oscar T ; Jenne, Dieter E ; Zatz, Mayana

Nature genetics, 2000-02, Vol.24 (2), p.163-166 [Periódico revisado por pares]

London: Nature Publishing Group

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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
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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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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