Citations for
1COCBS, PDE10A
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.
Diggle CP, Sukoff Rizzo SJ, Popiolek M, Hinttala R, Schülke JP, Kurian MA, Carr IM, Markham AF, Bonthron DT, Watson C, Sharif SM, Reinhart V, James LC, Vanase-Frawley MA, Charych E, Allen M, Harms J, Schmidt CJ, Ng J, Pysden K, Strick C, Vieira P, Mankinen K, Kokkonen H, Kallioinen M, Sormunen R, Rinne JO, Johansson J, Alakurtti K, Huilaja L, Hurskainen T, Tasanen K, Anttila E, Marques TR, Howes O, Politis M, Fahiminiya S, Nguyen KQ, Majewski J, Uusimaa J, Sheridan E, Brandon NJ.
Am J Hum Genet 98(4):735-43. doi: 10.1016/j.ajhg.2016.03.015. 2016
2COCBS, PDE10A
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.
Mencacci NE, Kamsteeg EJ, Nakashima K, R'Bibo L, Lynch DS, Balint B, Willemsen MA, Adams ME, Wiethoff S, Suzuki K, Davies CH, Ng J, Meyer E, Veneziano L, Giunti P, Hughes D, Raymond FL, Carecchio M, Zorzi G, Nardocci N, Barzaghi C, Garavaglia B, Salpietro V, Hardy J, Pittman AM, Houlden H, Kurian MA, Kimura H, Vissers LE, Wood NW, Bhatia KP.
Am J Hum Genet 98(4):763-71. doi: 10.1016/j.ajhg.2016.02.015. 2016