Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy von McDonald, Craig M, Meier, Thomas, Voit, Thomas, Schara, Ulrike, Straathof, Chiara SM, D'Angelo, M Grazia, Bernert, Günther, Cuisset, Jean-Marie, Finkel, Richard S, Goemans, Nathalie, Rummey, Christian, Leinonen, Mika, Spagnolo, Paolo, Buyse, Gunnar M, Group, for the DELOS Study

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Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot‐Marie‐Tooth disease type 2 phenotype von Anghelescu, C., Francou, B., Cardas, R., Guiochon‐Mantel, A., Aubourg, P., Servais, L., Gidaro, T.

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Analysis of NCAM helps identify unusual phenotypes of hereditary inclusion-body myopathy von BROCCOLINI, A, GIDARO, T, TASCA, G, MOROSETTI, R, RODOLICO, C, RICCI, E, MIRABELLA, M

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Simultaneous MFN2 and GDAP1 gene mutation cause severe Charcot–Marie–Tooth type 2 phenotype von Anghelescu, C, Cardas, R, Mantel, A, Aubourg, P, Servais, L, Gidaro, T

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Upper and lower extremity muscle strength decline over 1 year in a prospective, observational GNE-myopathy natural history study von Tarnopolsky, M, Mozaffar, T, Behin, A, Gidaro, T, Pogoryelova, O, Connor, E, Koutsoukos, T, Tourney, I, Lochmuller, H

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Assessment of grip strength in Duchenne muscular dystrophy von Hogrel, J, Moraux, A, Decostre, V, Ollivier, G, Canal, A, Lilien, C, Seferian, A, Gidaro, T, Servais, L

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Assessment of lower limbs in FSHD: The ActiMyo as a new outcome for home-monitoring von Gidaro, T, Gasnier, E, Denis, S, Lilien, C, Grelet, M, Rigaud, A, Moraux, A, Dorveaux, E, Vissiere, D, Servais, L

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G.P.80 von Gidaro, T, Bianchi, E, Hougrand, O, Florkrin, B, Misson, J.P, Barache, F, Servais, L

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Longitudinal study for GNE gene (ClinBio-GNE) von Gidaro, T, Duchene, D, Ollivier, G, Decostre, V, Hogrel, J.Y, Carlier, P, Behin, A, Servais, L

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X-linked myotubular myopathy in ambulant patients von Annoussamy, M, Chë, V, Lilien, C, Gidaro, T, Daron, A, Mayer, M, Arnal, J, Wallgren-Pettersson, C, Biancalana, V, Laporte, J, Hogrel, J, Ramsdell, D, Landy, H, Buj-Bello, A, Servais, L

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ClinBio-GNE: A longitudinal clinical, functional and imaging evaluation of patients affected by GNE myopathy von Gidaro, T, Le Louer, J, Ollivier, G, Duchene, D, Baudin, P, Marty, B, Decostre, V, Reyngodt, H, Hogrel, J, Behin, A, Carlier, P, Servais, L

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New criteria for assessing the achievement of upper limbs in FSHD patients von Gasnier, E, Gidaro, T, Grelet, M, Denis, S, Rigaud, A, Lilien, C, Seferian, A, Moraux, A, Dorveaux, E, Vissière, D, Servais, L

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Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study von Annoussamy, M, Lilien, C, Gidaro, T, Gargaun, E, Chê, V, Schara, U, Gangfuss, A, Daron, A, Cuisset, J, Mayer, M, Arnal, J, Hernandez, A, Vuillerot, C, Fontaine, S, Biancalana, V, Buj-Bello, A, Hogrel, J, Landy, H, Servais, L

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Baseline data from a European prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy – NatHis-SMA von Chabanon, A, Pereon, Y, Daron, A, Cances, C, Vuillerot, C, Fontaine, S, Goemans, N, De Waele, L, Laugel, V, Cuisset, J, Schara, U, Gangfuss, A, Gidaro, T, Gargaun, E, Marquet, A, Villeret, M, Phelep, A, Annoussamy, M, Servais, L

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Feasibility of magneto-inertial motion analysis in non-ambulant patients with spinal muscular atrophy von Seferian, A, Quicke, G, Gidaro, T, Gargaun, E, Gasnier, E, Pereon, Y, Daron, A, Cances, C, Vuillerot, C, Goemans, N, Laugel, V, Cuisset, J, Schara, U, Marquet, A, Chabanon, A, Annoussamy, M, Vissiere, D, Servais, L

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G.P.133 von Ollivier, G, Decostre, V, Ledoux, I, Servais, L, Gidaro, T, Behin, A, Stojkovic, T, Eymard, B, Bassez, G, Hogrel, J.Y

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NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations von RICCI, E, BROCCOLINI, A, GIDARO, T, MOROSETTI, R, GLIUBIZZI, C, FRUSCIANTE, R, DI LELLA, G. M, TONALI, P. A, MIRABELLA, M

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G.O.5 von Trollet, C, Chartier, A, Klein, P, Barbezier, N, Gidaro, T, Casas, F, Carberry, S, Dowling, P, Maynadier, L, Dickson, G, Mouly, V, Ohlendieck, K, Butler-Browne, G, Simonelig, M

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Natural history and functional status of patients with myotubular myopathy enrolled in a prospective and longitudinal study von R'guiba, N, Annoussamy, M, Cardas, R, Lilien, C, Ollivier, G, Muntoni, F, Bönnemann, C, Biancalana, V, Cuisset, J, Mayer, M, Landy, H, Ramsdell, D, Nelken, M, Le Moing, A, Gidaro, T, Mingozzi, F, Buj-Bello, A, Hogrel, J.Y, Voit, T, Servais, L

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P.16.12 OPMD from the myoblast’s and fibroblast’s point of view von Gidaro, T, Negroni, E, Klein, P, Oloko, M, Lesnik, M, Bigot, A, Mamchaoui, K, Périé, S, Guily, J.L. St, Butler-Browne, G, Mouly, V, Trollet, C

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