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Results 1-10 of 14 (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.
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.
2018Lumbar catheter placement for nusinersen administration in a SMA 2 patient with spinal deformities and previous spinal surgeryMENDONCA, R.; SILVA, A.; VELASCO, O.; CARDEAL, D.; CONTI-REED, U.; ZANOTELI, E.
2018Myositis and fasciitis due to disseminated histoplasmosisSILVA, A.; VIANNA, M.; ESTEVES, H.; COMELLO, F.; ZANOTELI, E.
2018Hypercontractile congenital muscle stiffnessCAMELO, C.; SILVA, A. Da; REED, U.; BONNEMANN, C.; ZANOTELI, E.
2018A curable myopathy manifesting as exercise intolerance and respiratory failureSILVA, A.; MENDONCA, R.; SOARES, D.; CALLEGARO, D.; CALDAS, V.; CARVALHO, M.; ZANOTELI, E.
2018Brachio-cervical inflammatory myopathy with lymphoid follicle-like structures in a patient with sclerodermaSILVA, A.; VIANNA, M.; MENDONCA, R.; ZANOTELI, E.
2016Nemaline myopathy related to HIV infection with a good response to immunosuppressionSILVA, A.; MENDONCA, R.; ESTEPHAN, E.; MORENO, C.; CARVALHO, M.; ZANOTELI, E.
2016Severe axial muscular involvement in Laing distal myopathy with a thumbprint finding on MRIDABAJ, I.; MORENO, C. Araujo Martins; ABATH NETO, O.; BERTINI, E.; CASTIGLIONI, C.; GUIMARAES, J. Brandao; REED, U. Conti; MESROB, L.; LECHNER, D.; FIORILLO, C.; MALFATI, E.; BOLAND, A.; DELEUZE, J.; BONNEMANN, C.; LAPORTE, J.; ROMERO, N.; GOMEZ, D.; QUIJANO-ROY, S.; CARLIER, R.; ZANOTELI, E.
2016Desmin-associated myofibrillar myopathy with cap-like structures in the muscle biopsySILVA, A.; ESTEPHAN, E.; MORENO, C.; MENDONCA, R.; NISHIMURA, P.; GALINDO, L.; CARVALHO, M.; ABATH-NETO, O.; ZANOTELI, E.