Distal spinal muscular atrophy and ataxia with cerebellar atrophy in two unrelated patients; a new phenotypic variant of HRD and recessive KCS syndrome related to TBCE
Bertini, E, Sferra, A, Rizza, T, Tasca, G, D'Amico, A, Zanni, G, Barresi, S, Diodato, D, Piermarini, E, Martinelli, D, Dionisi-Vici, C, Niceta, M, Dallapiccola, B, Tartaglia, M, Compagnucci, C
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Journal Article
G.P.123 - Distal spinal muscular atrophy and ataxia with cerebellar atrophy in two unrelated patients; a new phenotypic variant of HRD and recessive KCS syndrome related to TBCE
Bertini, E., Sferra, A., Rizza, T., Tasca, G., D'Amico, A., Zanni, G., Barresi, S., Diodato, D., Piermarini, E., Martinelli, D., Dionisi-Vici, C., Niceta, M., Dallapiccola, B., Tartaglia, M., Compagnucci, C.
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
Get full text
Journal Article