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| Issue Date | Title | Author(s) |
|---|---|---|
| 2017 | Biallelic mutation in FDXIL leads to a complex phenotype: optic atrophy, reversible leukoencephalopathy, metabolic myopathy and axonal polyneuropathy | GURGEL-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. |
| 2017 | A common CHRNE mutation (c.130dupG) in Brazilian patients with congenital myasthenic syndrome | ESTEPHAN, E.; SILVA, A.; MENDONCA, R.; CALDAS, V.; ZAMBON, A.; MARCHIORI, P.; HEISE, C.; REED, U.; ZANOTELI, E. |
| 2017 | First results from the international LMNA-related congenital and childhood onset muscular dystrophy retrospective natural history study | YAOU, 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. |
| 2017 | Hypokalaemic 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. |
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