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

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.

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

Autor(en):

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

Erschienen in:

American Journal of Human Genetics (2016), Bd. 98, H. 4, S. 763-771

Verlagsangabe:

Cell Press

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1016/j.ajhg.2016.02.015

ISSN:

1537-6605