Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

Autor: Scalco, R. S., Lucia, A., Santalla, A., Martinuzzi, A., Vavla, M., Reni, G., Toscano, A., Musumeci, O., Voermans, N. C., Kouwenberg, C. V., Laforet, P., San-Millan, B., Vieitez, I., Siciliano, G., Kuhnle, E., Trost, R., Sacconi, S., Stemmerik, M. G., Durmus, H., Kierdaszuk, B., Wakelin, A., Andreu, A. L., Pinos, T., Marti, R., Quinlivan, R., Vissing, J., Baruch, N., Ortega, F. J., Martin, M. A., Navarro, C., Millan, B. S., Castelli, M., Zucchi, F., Bruno, C., Scalco, R., Hadjgeorgiou, G., Zintzaras, E., Vorgerd, M., Zulow, E., Haller, R., Oflazer, P., Pouget, J.

Publikováno v: Orphanet Journal of Rare Diseases, 15
Orphanet Journal of Rare Diseases, 15, 1
Orphanet Journal of Rare Diseases
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Scalco, R S, Lucia, A, Santalla, A, Martinuzzi, A, Vavla, M, Reni, G, Toscano, A, Musumeci, O, Voermans, N C, Kouwenberg, C V, Laforêt, P, San-Millán, B, Vieitez, I, Siciliano, G, Kühnle, E, Trost, R, Sacconi, S, Stemmerik, M G, Durmus, H, Kierdaszuk, B, Wakelin, A, Andreu, A L, Pinós, T, Marti, R, Quinlivan, R, Vissing, J & EUROMAC Consortium 2020, ' Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) ', Orphanet Journal of Rare Diseases, vol. 15, no. 1, pp. 330 . https://doi.org/10.1186/s13023-020-01562-x

Background The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes an

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http://hdl.handle.net/11570/3184381

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Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes

Autor: Coutelier, M. Hammer, M.B. Stevanin, G. Monin, M.-L. Davoine, C.-S. Mochel, F. Labauge, P. Ewenczyk, C. Ding, J. Gibbs, J.R. Hannequin, D. Melki, J. Toutain, A. Laugel, V. Forlani, S. Charles, P. Broussolle, E. Thobois, S. Afenjar, A. Anheim, M. Calvas, P. Castelnovo, G. De Broucker, T. Vidailhet, M. Moulignier, A. Ghnassia, R.T. Tallaksen, C. Mignot, C. Goizet, C. Le Ber, I. Ollagnon-Roman, E. Pouget, J. Brice, A. Singleton, A. Durr, A. Belarabi, S. Hamri, A. Tazir, M. Boesch, S. Pandolfo, M. Ullmann, U. Jardim, L. Guergueltcheva, V. Tournev, I. Soong, B.-W. Linarès, O.L.P. Nielsen, J.E. Svenstrup, K. Zaki, M. Azulay, J.-P. Banneau, G. Boesfplug-Tanguy, O. Burgo, A. Cazeneuve, C. Darios, F. Depienne, C. Duyckaerts, C. Fontaine, B. Hazan, J. Koenig, M. Marelli, C. N'guyen, K. Rodriguez, D. Sittler, A. Verny, C. Bauer, P. Schöls, L. Schüle, R. Koutsis, G. Lossos, A. Antenora, A. Bassi, M.T. Basso, M. Bertini, E. Brusco, A. Casali, C. Casari, G. Criscuolo, C. Filla, A. Lieto, M. Orsi, L. Santorelli, F.M. Valente, E.M. Vavla, M. Vazza, G. Megarbane, A. Benomar, A. Roxburgh, R. Erichsen, A.K. Alonso, I. Coutinho, P. Loureiro, J.L. Sequeiros, J. Salih, M. Kostic, V.S. Axpe, I.R. Roumani, S. Kremer, B. Van Roon-Mom, W. Boukhris, A. Mhiri, C. Karabay, A. Nethisinghe, S. Okane, C. Oliva, M. Reid, E. Warner, T. Wood, N. Spastic Paraplegia Ataxia Network

IMPORTANCE Molecular diagnosis is difficult to achieve in disease groups with a highly heterogeneous genetic background, such as cerebellar ataxia (CA). In many patients, candidate gene sequencing or focused resequencing arrays do not allow investiga

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::f6b68737324ff67eb7f8a20a311aa1bb
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3107432

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