Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations von Mancini, Cecilia, Nassani, Stefano, Guo, Yiran, Chen, Yulan, Giorgio, Elisa, Brussino, Alessandro, Di Gregorio, Eleonora, Cavalieri, Simona, Lo Buono, Nicola, Funaro, Ada, Pizio, Nicola Renato, Nmezi, Bruce, Kyttala, Aija, Santorelli, Filippo Maria, Padiath, Quasar Salem, Hakonarson, Hakon, Zhang, Hao, Brusco, Alfredo

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Molecular diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) by detection of 17p11.2 deletion in Italian patients von MANDICH, P, JAMES, R, ARCHIDIACONO, N, NASSANI, S, DEFFERRARI, R, BELLONE, E, MANCARDI, G, SCHENONE, A, ABBRUZZESE, M, ROCCHI, M, AJMAR, F

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