De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

Chorea is a hyperkinetic movement disorder resulting from dysfunction of striatal medium spiny neurons (MSNs), which form the main output projections from the basal ganglia. Here, we used whole-exome sequencing to unravel the underlying genetic cause in three unrelated individuals with a very simila...

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Bibliografische gegevens
Gepubliceerd in:Am J Hum Genet
Hoofdauteurs: Mencacci, Niccolò E., Kamsteeg, Erik-Jan, Nakashima, Kosuke, R’Bibo, Lea, Lynch, David S., Balint, Bettina, Willemsen, Michèl A.A.P., Adams, Matthew E., Wiethoff, Sarah, Suzuki, Kazunori, Davies, Ceri H., Ng, Joanne, Meyer, Esther, Veneziano, Liana, Giunti, Paola, Hughes, Deborah, Raymond, F. Lucy, Carecchio, Miryam, Zorzi, Giovanna, Nardocci, Nardo, Barzaghi, Chiara, Garavaglia, Barbara, Salpietro, Vincenzo, Hardy, John, Pittman, Alan M., Houlden, Henry, Kurian, Manju A., Kimura, Haruhide, Vissers, Lisenka E.L.M., Wood, Nicholas W., Bhatia, Kailash P.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2016
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Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4833291/
https://ncbi.nlm.nih.gov/pubmed/27058447
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.02.015
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