Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

OBJECTIVE: To characterize clinically and molecularly an early-onset, variably progressive neurodegenerative disorder characterized by a cerebellar syndrome with severe ataxia, gaze palsy, dyskinesia, dystonia, and cognitive decline affecting 11 individuals from 3 consanguineous families. METHODS: W...

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Detalhes bibliográficos
Publicado no:Neurology
Main Authors: Muto, Valentina, Flex, Elisabetta, Kupchinsky, Zachary, Primiano, Guido, Galehdari, Hamid, Dehghani, Mohammadreza, Cecchetti, Serena, Carpentieri, Giovanna, Rizza, Teresa, Mazaheri, Neda, Sedaghat, Alireza, Vahidi Mehrjardi, Mohammad Yahya, Traversa, Alice, Di Nottia, Michela, Kousi, Maria M., Jamshidi, Yalda, Ciolfi, Andrea, Caputo, Viviana, Malamiri, Reza Azizi, Pantaleoni, Francesca, Martinelli, Simone, Jeffries, Aaron R., Zeighami, Jawaher, Sherafat, Amir, Di Giuda, Daniela, Shariati, Gholam Reza, Carrozzo, Rosalba, Katsanis, Nicholas, Maroofian, Reza, Servidei, Serenella, Tartaglia, Marco
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6070386/
https://ncbi.nlm.nih.gov/pubmed/29959261
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000005869
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