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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Publicat a:Neurology
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Lippincott Williams & Wilkins 2018
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Article
Accés en línia: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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