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Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy. [electronic resource] by
- Lostal, William
- Bartoli, Marc
- Roudaut, Carinne
- Bourg, Nathalie
- Krahn, Martin
- Pryadkina, Marina
- Borel, Perrine
- Suel, Laurence
- Roche, Joseph A
- Stockholm, Daniel
- Bloch, Robert J
- Levy, Nicolas
- Bashir, Rumaisa
- Richard, Isabelle
Producer: 20121029
In:
PloS one vol. 7
Availability: No items available.
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7.
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Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. [electronic resource] by
- Jaiswal, Jyoti K
- Marlow, Gareth
- Summerill, Gillian
- Mahjneh, Ibrahim
- Mueller, Sebastian
- Hill, Maria
- Miyake, Katsuya
- Haase, Hannelore
- Anderson, Louise V B
- Richard, Isabelle
- Kiuru-Enari, Sari
- McNeil, Paul L
- Simon, Sanford M
- Bashir, Rumaisa
Producer: 20070328
In:
Traffic (Copenhagen, Denmark) vol. 8
Availability: No items available.
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8.
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Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. [electronic resource] by
- Bolduc, Véronique
- Marlow, Gareth
- Boycott, Kym M
- Saleki, Khalil
- Inoue, Hiroshi
- Kroon, Johan
- Itakura, Mitsuo
- Robitaille, Yves
- Parent, Lucie
- Baas, Frank
- Mizuta, Kuniko
- Kamata, Nobuyuki
- Richard, Isabelle
- Linssen, Wim H J P
- Mahjneh, Ibrahim
- de Visser, Marianne
- Bashir, Rumaisa
- Brais, Bernard
Producer: 20100319
In:
American journal of human genetics vol. 86
Availability: No items available.
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9.
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ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. [electronic resource] by
- Sarkozy, Anna
- Hicks, Debbie
- Hudson, Judith
- Laval, Steve H
- Barresi, Rita
- Hilton-Jones, David
- Deschauer, Marcus
- Harris, Elizabeth
- Rufibach, Laura
- Hwang, Esther
- Bashir, Rumaisa
- Walter, Maggie C
- Krause, Sabine
- van den Bergh, Peter
- Illa, Isabel
- Pénisson-Besnier, Isabelle
- De Waele, Liesbeth
- Turnbull, Doug
- Guglieri, Michela
- Schrank, Bertold
- Schoser, Benedikt
- Seeger, Jürgen
- Schreiber, Herbert
- Gläser, Dieter
- Eagle, Michelle
- Bailey, Geraldine
- Walters, Richard
- Longman, Cheryl
- Norwood, Fiona
- Winer, John
- Muntoni, Francesco
- Hanna, Michael
- Roberts, Mark
- Bindoff, Laurence A
- Brierley, Charlotte
- Cooper, Robert G
- Cottrell, David A
- Davies, Nick P
- Gibson, Andrew
- Gorman, Gráinne S
- Hammans, Simon
- Jackson, Andrew P
- Khan, Aijaz
- Lane, Russell
- McConville, John
- McEntagart, Meriel
- Al-Memar, Ali
- Nixon, John
- Panicker, Jay
- Parton, Matt
- Petty, Richard
- Price, Christopher J
- Rakowicz, Wojtek
- Ray, Partha
- Schapira, Anthony H
- Swingler, Robert
- Turner, Chris
- Wagner, Kathryn R
- Maddison, Paul
- Shaw, Pamela J
- Straub, Volker
- Bushby, Kate
- Lochmüller, Hanns
Producer: 20140122
In:
Human mutation vol. 34
Availability: No items available.
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