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Results 1-10 of 48 (Search time: 0.039 seconds).
Issue DateTitleAuthor(s)
2017Biallelic mutation in FDXIL leads to a complex phenotype: optic atrophy, reversible leukoencephalopathy, metabolic myopathy and axonal polyneuropathyGURGEL-GIANNETTI, J.; LYNCH, D.; PAIVA, A.; YAMAMOTO, G.; LUCATO, L.; AMORIM, S.; FREUA, F.; GIANNETTI, A.; RIPA, B.; MONTI, F.; RIBEIRO, M.; KNAAP, M. Van der; OLDFORS, A.; VAINZOF, M.; HOLDEN, H.; KOK, F.
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.
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.
2013Spinal muscular atrophy due to a ""de novo"" 1.3 Mb deletion: Implication for genetic counselingSILVA, Luciana Rodrigues Jacy da; COLOVATI, Mileny Esbravatti Stephano; COPRERSKI, Bruno; ANDRADE, Carlos Eugenio Fernandez de; ZANOTELI, Edmar; RASKIN, Salmo; OLIVEIRA, Mariana Moyses; MELARAGNO, Maria Isabel; PEREZ, Ana Beatriz Alvarez
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.
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.
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.