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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
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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3
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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4
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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5
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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6
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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7
Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient
Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient
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Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient

Olivé, Montse ; Shatunov, Alexey ; Gonzalez, Laura ; Carmona, Olga ; Moreno, Dolores ; Quereda, Lidia Gonzalez ; Martinez-Matos, J.A ; Goldfarb, Lev G ; Ferrer, Isidro

Neuromuscular disorders : NMD, 2008-12, Vol.18 (12), p.929-933 [Periódico revisado por pares]

England: Elsevier B.V

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8
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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9
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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10
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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