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Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.
Published in:
Clinical Genetics, 2007, v. 72, n. 6, p. 582, doi. 10.1111/j.1399-0004.2007.00906.x
By:
- Krahn, M.;
- Pécheux, C.;
- Chapon, F.;
- Béroud, C.;
- Drouin-Garraud, V.;
- Laforet, P.;
- Romero, N. B.;
- Penisson-Besnier, I.;
- Bernard, R.;
- Urtizberea, J. A.;
- Leturcq, F.;
- Lévy, N.
Publication type:
Article
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.
Published in:
Neuropathology & Applied Neurobiology, 2011, v. 37, n. 3, p. 271, doi. 10.1111/j.1365-2990.2010.01149.x
By:
- 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.
Publication type:
Article
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis‐myalgia syndrome.
Published in:
Acta Neurologica Scandinavica, 2018, v. 137, n. 5, p. 452, doi. 10.1111/ane.12885
By:
- Witting, N.;
- Laforêt, P.;
- Voermans, N. C.;
- Roux‐Buisson, N.;
- Bompaire, F.;
- Rendu, J.;
- Duno, M.;
- Feillet, F.;
- Kamsteeg, E.‐J.;
- Poulsen, N. S.;
- Dahlqvist, J. R.;
- Romero, N. B.;
- Fauré, J.;
- Vissing, J.;
- Behin, A.
Publication type:
Article
Clinical correlations and long‐term follow‐up in 100 patients with sarcoglycanopathies.
Published in:
European Journal of Neurology, 2021, v. 28, n. 2, p. 660, doi. 10.1111/ene.14592
By:
- Guimarães‐Costa, R.;
- Fernández‐Eulate, G.;
- Wahbi, K.;
- Leturcq, F.;
- Malfatti, E.;
- Behin, A.;
- Leonard‐Louis, S.;
- Desguerre, I.;
- Barnerias, C.;
- Nougues, M. C.;
- Isapof, A.;
- Estournet‐Mathiaud, B.;
- Quijano‐Roy, S.;
- Fayssoil, A.;
- Orlikowski, D.;
- Fauroux, B.;
- Richard, I.;
- Semplicini, C.;
- Romero, N. B.;
- Querin, G.
Publication type:
Article
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.
Published in:
European Journal of Neurology, 2018, v. 25, n. 5, p. 790, doi. 10.1111/ene.13598
By:
- Jonson, P. H.;
- Palmio, J.;
- Johari, M.;
- Penttil#228;, S.;
- Evil#228;, A.;
- Nelson, I.;
- Bonne, G.;
- Wiart, N.;
- Meyer, V.;
- Boland, A.;
- Deleuze, J.-F.;
- Masson, C.;
- Stojkovic, T.;
- Chapon, F.;
- Romero, N. B.;
- Sol#233;, G.;
- Ferrer, X.;
- Ferreiro, A.;
- Hackman, P.;
- Richard, I.
Publication type:
Article
Mujer y desplazamiento de sí: sustratos socioculturales que soportan las redes de la violencia de género.
Published in:
Revista Facultad Nacional de Salud Pública, 2013, v. 31, n. 3, p. 349
By:
- Montoya S., Sandra M.;
- Romero B., María N.;
- Jeréz F., Lady C.
Publication type:
Article

Found: 6

Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay.

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis‐myalgia syndrome.

Clinical correlations and long‐term follow‐up in 100 patients with sarcoglycanopathies.

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.

Mujer y desplazamiento de sí: sustratos socioculturales que soportan las redes de la violencia de género.