A novel gain‐of‐function mutation in ORAI1 causes late‐onset tubular aggregate myopathy and congenital miosis von Garibaldi, M., Fattori, F., Riva, B., Labasse, C., Brochier, G., Ottaviani, P., Sacconi, S., Vizzaccaro, E., Laschena, F., Romero, N.B., Genazzani, A., Bertini, E., Antonini, G.

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CORE-ROD MYOPATHY CAUSED BY MUTATIONS IN THE NEBULIN GENE von ROMERO, N. B, LEHTOKARI, V.-L, LUNARDI, J, FARDEAU, M, PELIN, K, WALLGREN-PETTERSSON, C, QUIJANO-ROY, S, MONNIER, N, CLAEYS, K. G, CARLIER, R. Y, PELLEGRINI, N, ORLIKOWSKI, D, BAROIS, A, LAING, N. G

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Adult cases of mitochondrial DNA depletion due to TK2 defect: An expanding spectrum von BEHIN, A, JARDEL, C, CLAEYS, K. G, FAGART, J, LOUHA, M, ROMERO, N. B, LAFORET, P, EYMARD, B, LOMBES, A

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PHENOTYPE OF A PATIENT WITH RECESSIVE CENTRONUCLEAR MYOPATHY AND A NOVEL BIN1 MUTATION von CLAEYS, K. G, MAISONOBE, T, BÖHM, J, LAPORTE, J, HEZODE, M, ROMERO, N. B, BROCHIER, G, BITOUN, M, CARLIER, R. Y, STOJKOVIC, T

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Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization von Bevilacqua, J. A., Monnier, N., Bitoun, M., Eymard, B., Ferreiro, A., Monges, S., Lubieniecki, F., Taratuto, A. L., Laquerrière, A., Claeys, K. G., Marty, I., Fardeau, M., Guicheney, P., Lunardi, J., Romero, N. B.

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Clinical and histologic findings in autosomal centronuclear myopathy von JEANNET, P.-Y, BASSEZ, G, EYMARD, B, LAFORET, P, URTIZBEREA, J. A, ROUCHE, A, GUICHENEY, P, FARDEAU, M, ROMERO, N. B

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A NEW CENTRONUCLEAR MYOPATHY PHENOTYPE DUE TO A NOVEL DYNAMIN 2 MUTATION von BITOUN, M, BEVILACQUA, J. A, EYMARD, B, PRUDHON, B, FARDEAU, M, GUICHENEY, P, ROMERO, N. B

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Highly asymmetrical distribution of muscle wasting correlates to the heteroplasmy in a patient carrying a large-scale mitochondrial DNA deletion: a novel pathophysiological mechani... von Masingue, M., Rucheton, B., Bris, C., Romero, N.B., Procaccio, V., Eymard, B

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Nemaline myopathies: State of the art von Malfatti, E., Romero, N.B.

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New POMT2 mutations causing congenital muscular dystrophy : Identification of a founder mutation von YANAGISAWA, A, BOUCHET, C, GUICHENEY, P, VAN DEN BERGH, P. Y. K, CUISSET, J.-M, VIOLLET, L, LETURCQ, F, ROMERO, N. B, QUIJANO-ROY, S, FARDEAU, M, SETA, N

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Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia von Romero, Norma Beatriz, Monnier, Nicole, Viollet, Louis, Cortey, Anne, Chevallay, Martine, Leroy, Jean Paul, Lunardi, Joël, Fardeau, Michel

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Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families von Jonson, P. H., Palmio, J., Johari, M., Penttilä, S., Evilä, A., Nelson, I., Bonne, G., Wiart, N., Meyer, V., Boland, A., Deleuze, J.‐F., Masson, C., Stojkovic, T., Chapon, F., Romero, N. B., Solé, G., Ferrer, X., Ferreiro, A., Hackman, P., Richard, I., Udd, B.

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Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay von Krahn, M, Pécheux, C, Chapon, F, Béroud, C, Drouin-Garraud, V, Laforet, P, Romero, NB, Penisson-Besnier, I, Bernard, R, Urtizberea, JA, Leturcq, F, Lévy, N

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Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene von FISCHER, D, HERASSE, M, GUICHENEY, P, FARDEAU, M, ROMERO, N. B, FERREIRO, A, BARRAGAN-CAMPOS, H. M, CHIRAS, J, VIOLLET, L, MAUGENRE, S, LEROY, J.-P, MONNIER, N, LUNARDI, J

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Charcot-Marie-tooth features and maculopathy in a patient with Danon disease von LAFORET, P, CHARRON, P, EYMARD, B, MAISONOBE, T, ROMERO, N. B, VILLARD, E, SEBILLON, P, DROUIN-GARRAUD, V, DUBOURG, O, FARDEAU, M, KOMAJDA, M

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Primary adhalinopathy (α-sarcoglycanopathy) : Clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy von EYMARD, B, ROMERO, N. B, MERLINI, L, THEMAR-NOËL, C, PENISSON, I, MAYER, M, TANGUY, O, CAMPBELL, K. P, KAPLAN, J. C, TOME, F. M. S, FARDEAU, M, LETURCQ, F, PICCOLO, F, CARRIE, A, JEANPIERRE, M, COLLIN, H, DEBURGRAVE, N, AZIBI, K, CHAOUCH, M

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Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC von Avila-Smirnow, D., Gueneau, L., Batonnet-Pichon, S., Delort, F., Bécane, H.-M., Claeys, K., Beuvin, M., Goudeau, B., Jais, J.-P., Nelson, I., Richard, P., Ben Yaou, R., Romero, N.B., Wahbi, K., Mathis, S., Voit, T., Furst, D., van der Ven, P., Gil, R., Vicart, P., Fardeau, M., Bonne, G., Behin, A.

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Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor von MONNIER, Nicole, ROMERO, Norma Beatriz, LERALE, Joëlle, LANDRIEU, Pierre, NIVOCHE, Yves, FARDEAU, Michel, LUNARDI, Joël

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Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype von Vuillaumier-Barrot, S, Quijano-Roy, S, Bouchet-Seraphin, C, Maugenre, S, Peudenier, S, Van den Bergh, P, Marcorelles, P, Avila-Smirnow, D, Chelbi, M, Romero, N.B, Carlier, R.Y, Estournet, B, Guicheney, P, Seta, N

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Prise en charge des biopsies musculaires et nerveuses. Recommandations formalisées d’experts sous l’égide de la Société française de neuropathologie, de la Société française de myo... von URO-COSTE, E, FERNANDEZ, C, LACROIX, C, LAQUERRIERE, A, LETOURNEL, F, MAGY, L, MAISONOBE, T, MARCORELLES, P, MAURAGE, C.-A, MEZIN, P, MUSSINI, J.-M, PENISSON-BESNIER, I, AUTHIER, F.-J, ROMERO, N.-B, STREICHENBERGER, N, VALLAT, J.-M, VIENNET, G, VITAL, A, VOIT, T, BOUCHAREF, W, FIGARELLA-BRANGER, D, BASSEZ, G, BUTORI, C, CHAPON, F, DELISLE, M.-B, DUBOURG, O, FEASSON, L, GHERARDI, R

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