Unverricht-Lundborg disease: development of splicing therapeutic approaches for a patient with an homozygous mutation in the cystatin B gene

Unverricht-Lundborg disease (ULD or EPM1) is the most common form of progressive myoclonic epilepsy (PME) worldwide. It is an autosomal recessive neurodegenerative disorder caused by mutations in the cystatin B gene (CSTB) that encodes an inhibitor of several lysosomal cathepsins. An unstable expans...

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Bibliographic Details
Main Author: Matos, Liliana (author)
Other Authors: Duarte, Ana Joana (author), Jordan, Peter (author), Prata, Maria João (author), Chaves, João (author), Amaral, Olga (author), Alves, Sandra (author)
Format: conferenceObject
Language:eng
Published: 2014
Subjects:
Doença de Unverricht-Lundborg
Terapia de Splicing
Doenças Genéticas
Online Access:http://hdl.handle.net/10400.18/2155
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2155

Internet

http://hdl.handle.net/10400.18/2155

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