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Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. [electronic resource] by
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- Vissing, John
- Dahlqvist, Julia R
- Stojkovic, Tanya
- Bello, Luca
- Witting, Nanna
- Duno, Morten
- Leturcq, France
- Bertolin, Cinzia
- D'Ambrosio, Paola
- Eymard, Bruno
- Angelini, Corrado
- Politano, Luisa
- Laforêt, Pascal
- Pegoraro, Elena
Producer: 20150706
In:
Neurology vol. 84
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Nanospan, an alternatively spliced isoform of sarcospan, localizes to the sarcoplasmic reticulum in skeletal muscle and is absent in limb girdle muscular dystrophy 2F. [electronic resource] by
- Peter, Angela K
- Miller, Gaynor
- Capote, Joana
- DiFranco, Marino
- Solares-Pérez, Alhondra
- Wang, Emily L
- Heighway, Jim
- Coral-Vázquez, Ramón M
- Vergara, Julio
- Crosbie-Watson, Rachelle H
Producer: 20180326
In:
Skeletal muscle vol. 7
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MRI in sarcoglycanopathies: a large international cohort study. [electronic resource] by
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- Monforte, Mauro
- Díaz-Manera, Jordi
- Brisca, Giacomo
- Semplicini, Claudio
- D'Amico, Adele
- Fattori, Fabiana
- Pichiecchio, Anna
- Berardinelli, Angela
- Maggi, Lorenzo
- Maccagnano, Elio
- Løkken, Nicoline
- Marini-Bettolo, Chiara
- Munell, Francina
- Sanchez, Angel
- Alshaikh, Nahla
- Voermans, Nicol C
- Dastgir, Jahannaz
- Vlodavets, Dmitry
- Haberlová, Jana
- Magnano, Gianmichele
- Walter, Maggie C
- Quijano-Roy, Susana
- Carlier, Robert-Yves
- van Engelen, Baziel G M
- Vissing, John
- Straub, Volker
- Bönnemann, Carsten G
- Mercuri, Eugenio
- Muntoni, Francesco
- Pegoraro, Elena
- Bertini, Enrico
- Udd, Bjarne
- Ricci, Enzo
- Bruno, Claudio
Producer: 20180105
In:
Journal of neurology, neurosurgery, and psychiatry vol. 89
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Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers. [electronic resource] by
- Wyatt, Eugene J
- Demonbreun, Alexis R
- Kim, Ellis Y
- Puckelwartz, Megan J
- Vo, Andy H
- Dellefave-Castillo, Lisa M
- Gao, Quan Q
- Vainzof, Mariz
- Pavanello, Rita C M
- Zatz, Mayana
- McNally, Elizabeth M
Producer: 20191223
In:
JCI insight vol. 3
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