De novo mutations in PDE1 0A cause childhood-onset chorea with bilateral striatal lesions

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De novo mutations in PDE1 0A cause childhood-onset chorea with bilateral striatal lesions

Author: Mencacci, Niccolo E.; Kamsteeg, Erik-Jan; Nakashima, Kosuke; R'Bibo, Lea; Lynch, David S.; Balint, Bettina; Willemsen, Michel 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.
Tübinger Autor(en):
Wiethoff, Sarah
Published in: American Journal of Human Genetics (2016), Bd. 98, H. 4, S. 763-771
Verlagsangabe: Cell Press
Language: English
Full text: http://dx.doi.org/10.1016/j.ajhg.2016.02.015
ISSN: 1537-6605
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Artikel
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