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A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.
Cabrera-Serrano M(1), Mavillard F(1), Biancalana V(1), Rivas E(1), Morar B(1), Hernandez-Lain A(1), Olive M(1), Muelas N(1), Khan E(1), Carvajal A(1), Quiroga P(1), Diaz-Manera J(1), Davis M(1), Avila R(1), Dominguez C(1), Romero NB(1), Vilchez JJ(1), Comas D(1), Laing NG(1), Laporte J(1), Kalaydjieva L(1), Paradas C(2).
Neurology 24 juillet 2018
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Active bundles of polar and bipolar filaments.
Kreten FH(1), Hoffmann C(1), Riveline D(2), Kruse K(3).
Phys Rev E Jul 2018
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Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
Nadjar Y(1), Hutter-Moncada AL(2), Latour P(3), Ayrignac X(4), Kaphan E(5), Tranchant C(6)(7)(8), Cintas P(9), Degardin A(10), Goizet C(11), Laurencin C(12), Martzolff L(13), Tilikete C(14), Anheim M(6)(7)(8), Audoin B(15)(16), Deramecourt V(17), De Gaillarbois TD(18), Roze E(19)(20), Lamari F(21), Vanier MT(22)(23), Heron B(24).
Orphanet J Rare Dis 1 octobre 2018
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Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy.
Trochet D(1), Prudhon B(1), Beuvin M(1), Peccate C(1), Lorain S(1), Julien L(1), Benkhelifa-Ziyyat S(1), Rabai A(2), Mamchaoui K(1), Ferry A(1), Laporte J(2), Guicheney P(3), Vassilopoulos S(1), Bitoun M(4).
EMBO Mol Med Feb 2018
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Alternative dimerization interfaces in the glucocorticoid receptor-alpha ligand binding domain.
Bianchetti L(1), Wassmer B(1), Defosset A(1), Smertina A(1), Tiberti ML(1), Stote RH(1), Dejaegere A(2).
Biochim Biophys Acta Aug 2018
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An Arf6- and caveolae-dependent pathway links hemidesmosome remodeling and mechanoresponse.
Osmani N(1)(2)(3)(4)(5), Pontabry J(1)(3), Comelles J(1)(3)(6), Fekonja N(2)(3)(4)(5), Goetz JG(2)(3)(4)(5), Riveline D(7)(3)(6), Georges-Labouesse E(1)(3), Labouesse M(7)(3)(8).
Mol Biol Cell 15 février 2018
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An integrated modelling methodology for estimating the prevalence of centronuclear myopathy.
Vandersmissen I(1), Biancalana V(2), Servais L(3), Dowling JJ(4), Vander Stichele G(1), Van Rooijen S(5), Thielemans L(6).
Neuromuscul Disord Sep 2018
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Analysis of high-throughput biological data using their rank values.
Dembele D(1).
Stat Methods Med Res Jan 1:96228021876418 2018
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