Distal spinal muscular atrophy and ataxia with cerebellar...

Neuromuscular Disorders 2015 / 10 Vol. 25

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., Compagnu
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Volume:
25
Language:
english
Journal:
Neuromuscular Disorders
DOI:
10.1016/j.nmd.2015.06.138
Date:
October, 2015
File:
PDF, 210 KB
english, 2015
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