Search Results - Jimenez-Mallabrera, C.

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  1. 1
    P5.45 Recurrent rhabdomyolysis caused by LPIN 1 gene mutation in a patient affected by Charcot–Marie–Tooth 1A

    P5.45 Recurrent rhabdomyolysis caused by LPIN 1 gene mutation in a patient affected by Charcot–Marie–Tooth 1A by Nascimento, A, Ortez, C, Jimenez-Mallabrera, C, Garcia-Villoria, J, Blazquez, E, Jou, C, Corbera, J, Garcia, A, Colomer, J

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  2. 2
    P2.42 Cys150Arg FHL1 mutation in two brothers affected by the Emery-Dreifuss muscular dystrophy phenotype

    P2.42 Cys150Arg FHL1 mutation in two brothers affected by the Emery-Dreifuss muscular dystrophy phenotype by Ortez, C, Nascimento, A, Jimenez-Mallabrera, C, Feldkirchner, S, Kubny, C, Schessl, J, Jou, C, Corbera, J, Roig, M, Colomer, J

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  3. 3
    P5.20 Limb Girdle Congenital Myasthenia Syndrome associated with mutations in GFPT1 gene. Report of two patients

    P5.20 Limb Girdle Congenital Myasthenia Syndrome associated with mutations in GFPT1 gene. Report of two patients by Colomer, J, Nascimento, A, Ortez, C, Jimenez-Mallabrera, C, Jou, C, Corbera, J, Guergueltcheva, V, Senderek, J, Müller, J.S, Lochmüller, H

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  4. 4
    G.P.10.08 Fetal myasthenia and arthrogryposis multiplex congenita caused by mutation in the fetal γ-subunit of the acetylcholine receptor ( CHRNG ): Escobar syndrome

    G.P.10.08 Fetal myasthenia and arthrogryposis multiplex congenita caused by mutation in the fetal γ-subunit of the acetylcholine receptor ( CHRNG ): Escobar syndrome by Nascimento, A, Colomer, J, Fons, C, Müller, J, Mihaylova, V, Jimenez-Mallabrera, C, Lochmüller, H

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  5. 5
    Biallelic mutations in Oxa1l cause a mitochondrial encephalopathy and combined oxidative phosphorylation dysfunction

    Biallelic mutations in Oxa1l cause a mitochondrial encephalopathy and combined oxidative phosphorylation dysfunction by Thompson, K., Mai, N., Olahova, M., Scialo, F., Formosa, L.E., Stroud, D.A., Garett, M., Lax, N.Z., Jou, C., Nascimento, A., Ortez, C., Jimenez-Mallabrera, C., Hardy, S.A., He, L., Brown, G.K., Marttinen, P., McFarland, R., Sanz, A., Battersby, B.J., Bonnen, P.E., Ryan, M.T., Chrzanowska-Lightowlers, Z.M.A., Lightowlers, R.N., Taylor, R.W.

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  6. 6
    M14 - Biallelic mutations in Oxa1l cause a mitochondrial encephalopathy and combined oxidative phosphorylation dysfunction

    M14 - Biallelic mutations in Oxa1l cause a mitochondrial encephalopathy and combined oxidative phosphorylation dysfunction by Thompson, K., Mai, N., Olahova, M., Scialo, F., Formosa, L.E., Stroud, D.A., Garett, M., Lax, N.Z., Jou, C., Nascimento, A., Ortez, C., Jimenez-Mallabrera, C., Hardy, S.A., He, L., Brown, G.K., Marttinen, P., McFarland, R., Sanz, A., Battersby, B.J., Bonnen, P.E., Ryan, M.T., Chrzanowska-Lightowlers, Z.M.A., Lightowlers, R.N., Taylor, R.W.

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  7. 7
    M.P.1.05 Successful long-term acethylcholinesterase inhibitor therapy in patients affected by Rapsyn (RAPSN) mutation early onset phenotype

    M.P.1.05 Successful long-term acethylcholinesterase inhibitor therapy in patients affected by Rapsyn (RAPSN) mutation early onset phenotype by Nascimento, A, Colomer, J, Pineda, M, Mihaylova, J, Turon, L, Garcia-Ribes, A, Ortez, C, Muller, J, Jiménez–Mallabrera, C, Lochmüller, H

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