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Results 1-10 of 42 (Search time: 0.004 seconds).
Issue DateTitleAuthor(s)
2017A common CHRNE mutation (c.130dupG) in Brazilian patients with congenital myasthenic syndromeESTEPHAN, E.; SILVA, A.; MENDONCA, R.; CALDAS, V.; ZAMBON, A.; MARCHIORI, P.; HEISE, C.; REED, U.; ZANOTELI, E.
2017First results from the international LMNA-related congenital and childhood onset muscular dystrophy retrospective natural history studyYAOU, R. Ben; DABAJ, I.; YUN, P.; NORATO, G.; XIONG, H.; NASCIMENTO, A.; MAGGI, L.; SARKOZY, A.; MONGES, S.; BERTOLI, M.; KOMAKI, H.; MERCURI, E.; ZANOTELI, E.; BUSHBY, K.; MUNTONI, F.; RUTKOWSKI, A.; BONNEMANN, C.; QUIJANO-ROY, S.; BONNE, G.
2018Recessive congenital fiber type disproportion caused by TPM3 mutationMORENO, C.; ESTEPHAN, E.; ABATH NETO, O.; CAMELO, C.; SILVA, A.; REED, U.; BONNEMANN, C.; ZANOTELI, E.
2018PROPOSING OF A LESS COSTLY STRATEGY FOR MOLECULAR DIAGNOSIS OF CONGENITAL MYASTHENIC SYNDROME IN BRAZIL.ESTEPHAN, E. P.; SILVA, M. A. S.; ZAMBON, A. A.; REED, U. C.; TOPF, A.; LOCHMUELLER, H.; ZANOTELI, E.
2018ATYPICAL AND UNCLASSIFIED CASES OF INFLAMMATORY MYOPATHIESSILVA, A. M. S.; MENDONCA, R. H.; ZANOTELI, E.
2017HYPOKALAEMIC PERIODIC PARALYSIS DUE TO A NOVEL ATP1A2 MUTATION: A NEW PERIODIC PARALYSIS GENE?MATTHEWS, E.; ZANOTELI, E.; SCALCO, R.; O'CALLAGHAN, B.; SUD, R.; MCCALL, S.; BUGIARDINI, E.; PHADKE, R.; HANNA, M. G.; POULSEN, H.; CASTENADA, M. S.; MANNIKKO, R.
2017Hypokalaemic periodic paralysis due to a novel ATP1A2 mutation: a new periodic paralysis gene?MATTHEWS, E.; ZANOTELI, E.; SCALCO, R. S.; O'CALLAGHAN, B.; SUD, R.; MCCALL, S.; HANNA, M. G.; CASTENADA, M. Sampedro; MANNIKKO, R.; POULSON, H.
2018The development of a Brazilian Portuguese version of the activity limitations scale (ACTIVLIM)VOOS, M.; ALMEIDA, D.; SILVA, A.; SANTOS, P.; REED, U.; ZANOTELI, E.
2019CLINICAL AND MOLECULAR SPECTRUM OF MYOFIBRILLAR MYOPATHY IN A BRAZILIAN COHORTSILVA, A. M. S.; MENDONCA, R. H.; CAMELO, C. G.; ESTEPHAN, E. P.; MORENO, C. A. M.; CARVALHO, M. S.; NASCIMENTO, A. M.; KULIKOWSKI, L. D.; DIAS, A. T.; OLIVEIRA, A. S. B.; REED, U. C.; ZANOTELI, E.
2018High frequency of manifesting carriers in the recessive X-linked myotubular myopathySOUZA, L.; ALMEIDA, C.; SILVA, L.; PAVANELLO, R.; GURGEL-GIANNETI, J.; ZANOTELI, E.; ZATZ, M.; OTTO, P.; VAINZOF, M.