DNM1 encephalopathy: A new disease of vesicle fission

OBJECTIVE: To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling. METHODS: We reviewed phenotypic data of 21 pa...

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Detalhes bibliográficos
Publicado no:Neurology
Main Authors: von Spiczak, Sarah, Helbig, Katherine L., Shinde, Deepali N., Huether, Robert, Pendziwiat, Manuela, Lourenço, Charles, Nunes, Mark E., Sarco, Dean P., Kaplan, Richard A., Dlugos, Dennis J., Kirsch, Heidi, Slavotinek, Anne, Cilio, Maria R., Cervenka, Mackenzie C., Cohen, Julie S., McClellan, Rebecca, Fatemi, Ali, Yuen, Amy, Sagawa, Yoshimi, Littlejohn, Rebecca, McLean, Scott D., Hernandez-Hernandez, Laura, Maher, Bridget, Møller, Rikke S., Palmer, Elizabeth, Lawson, John A., Campbell, Colleen A., Joshi, Charuta N., Kolbe, Diana L., Hollingsworth, Georgie, Neubauer, Bernd A., Muhle, Hiltrud, Stephani, Ulrich, Scheffer, Ingrid E., Pena, Sérgio D.J., Sisodiya, Sanjay M., Helbig, Ingo
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5574673/
https://ncbi.nlm.nih.gov/pubmed/28667181
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000004152
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