Screening study of TUBB4A in isolated dystonia

Mutations in TUBB4A have been identified to cause a wide phenotypic spectrum ranging from hereditary generalized dystonia with whispering dysphonia (DYT4) to the leukodystrophy hypomyelination syndrome with atrophy of the basal ganglia and cerebellum (H-ABC). To test for the contribution of TUBB4A m...

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Detalhes bibliográficos
Publicado no:Parkinsonism Relat Disord
Main Authors: Vulinovic, Franca, Schaake, Susen, Domingo, Aloysius, Kumar, Kishore Raj, Defazio, Giovanni, Mir, Pablo, Simonyan, Kristina, Ozelius, Laurie J., Brüggemann, Norbert, Chung, Sun Ju, Rakovic, Aleksandar, Lohmann, Katja, Klein, Christine
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5769152/
https://ncbi.nlm.nih.gov/pubmed/28655586
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.parkreldis.2017.06.001
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