Browsing by Author "Lopes-Lima, J."
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- Unverricht–lundborg disease: report of a new mutationPublication . Freitas, Joel; Pinto, Eugénia; Duarte, A.J.; Amaral, Olga; Chaves, Joao; Lopes-Lima, J.P301: Unverricht-Lundborg disease is the most frequent cause of progressive myoclonic epilepsy. CSTB mutations, with cystatin B loss of function, have been described as the major cause of this disease.