Pubblicazioni

A novel homozygous mutation in TBK1 gene causing ALS-FTD

2022 - NEUROLOGICAL SCIENCES

Libonati, L.; Ceccanti, M.; Cambieri, C.; Colavito, D.; Moret, F.; Fiorini, I.; Inghilleri, M.

Identification of a novel TSC2 c.3610Gâ>âA, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report

2018 - BMC MEDICAL GENETICS

Zhang, R; Wang, J; Wang, Q; Han, Y; Liu, X; Bottillo, I; Lang, Y; Shao, L.

A novel MGC4607/CCM2 gene mutation associated with cerebral spinal and cutaneous cavernous angiomas

2015 - JOURNAL OF MOLECULAR NEUROSCIENCE

Cigoli, M. S.; De Benedetti, S.; Marocchi, A.; Bacigaluppi, S.; Primignani, P.; Gesu, G.; Citterio, A.; Tassi, L.; Mecarelli, O.; Pulitano, P.; Penco, S.

Pubblicazioni

A novel homozygous mutation in TBK1 gene causing ALS-FTD

Identification of a novel TSC2 c.3610Gâ>âA, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report

A novel MGC4607/CCM2 gene mutation associated with cerebral spinal and cutaneous cavernous angiomas

Identification of a novel TSC2 c.3610Gâ>âA, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report