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Journal Article
by Salpietro, V and Dixon, CL and Guo, H and Bello, OD and Vandrovcova, J and Efthymiou, S and Maroofian, R and Heimer, G and Burglen, L and Valence, S and Torti, E and Hacke, M and Rankin, J and Tariq, H and Colin, E and Procaccio, V and Striano, P and Mankad, K and Lieb, A and Chen, S and Pisani, L and Bettencourt, C and Mannikko, R and Manole, A and Brusco, A and Grosso, E and Ferrero, GB and Armstrong-Moron, J and Gueden, S and Bar-Yosef, O and Tzadok, M and Monaghan, KG and Santiago-Sim, T and Person, RE and Cho, MT and Willaert, R and Yoo, Y and Chae, JH and Quan, YT and Wu, HD and Wang, TY and Bernier, RA and Xia, K and Blesson, A and Jain, M and Motazacker, MM and Jaeger, B and Schneider, AL and Boysen, K and Muir, AM and Myers, CT and Gavrilova, RH and Gunderson, L and Schultz-Rogers, L and Klee, EW and Dyment, D and Osmond, M and Parellada, M and Llorente, C and Gonzalez-Penas, J and Carracedo, A and Van Haeringen, A and Ruivenkamp, C and Nava, C and Heron, D and Nardello, R and Iacomino, M and Minetti, C and Skabar, A and Fabretto, A and Chez, M and Tsai, A and Fassi, E and Shinawi, M and Constantino, JN and De Zorzi, R and Fortuna, S and Kok, F and Keren, B and Bonneau, D and Choi, M and Benzeev, B and Zara, F and Mefford, HC and Scheffer, IE and Clayton-Smith, J and Macaya, A and Rothman, JE and Eichler, EE and Kullmann, DM and Houlden, H and Raspall-Chaure, M and Hanna, MG and Bugiardini, E and Hostettler, I and O'Callaghan, B and Khan, A and Cortese, A and O'Connor, E and Yau, WY and ... and SYNAPS Study Grp and SYNAPS Study Group
NATURE COMMUNICATIONS, ISSN 2041-1723, 07/2019, Volume 10, Issue 1, pp. 1 - 16
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 09/2016, Volume 172, Issue 3, pp. 288 - 295
Journal Article
Annals of Neurology, ISSN 0364-5134, 07/2016, Volume 80, Issue 1, pp. 167 - 168
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2016, Volume 98, Issue 4, pp. 763 - 771
Journal Article
Movement Disorders, ISSN 0885-3185, 12/2018, Volume 33, Issue 12, pp. 1961 - 1965
Background Striatal cyclic adenosine monophosphate activity modulates movement and is determined from the balance between its synthesis by adenylate cyclase 5... 
chorea | PDE10A | parkinsonism | ADYC5 | PET | SUBSTANTIA-NIGRA | ONSET | CLINICAL NEUROLOGY | Basal ganglia | Dopamine | AMP | Substantia nigra | Globus pallidus | Cyclic AMP | Substantia grisea | Single photon emission computed tomography | Ganglia | Adenylate cyclase | Magnetic resonance imaging | Computed tomography | Neostriatum | Dopamine transporter | Thalamus | Mutation | Positron emission tomography | Phosphodiesterase
Journal Article
Cell Reports, ISSN 2211-1247, 01/2018, Volume 22, Issue 3, pp. 820 - 831
Mutations in proline-rich transmembrane protein 2 (PRRT2) are associated with a range of paroxysmal neurological disorders. PRRT2 predominantly localizes to... 
PRRT2 | synaptic fusion | neurotransmitter release | paroxysmal dyskinesia | SNARE proteins | MEMBRANE-FUSION | VESICLE FUSION | SYNAPTOTAGMIN-I | EXOCYTOSIS | NEUROTRANSMITTER RELEASE | DYNAMICS | MUTATIONS | PAROXYSMAL KINESIGENIC DYSKINESIA | PROTEINS | PROLINE | CELL BIOLOGY | Index Medicus
Journal Article
Human Genetics, ISSN 0340-6717, 11/2017, Volume 136, Issue 11, pp. 1419 - 1429
Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The list of monogenic forms of ID has increased rapidly in recent... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | SLC12A2 | PROTEIN | VARIANTS | MUTATION | DISEASE | GENETICS & HEREDITY | NKCC1 | EXCHANGE | BRAIN | INSIGHTS | Medicine, Experimental | Medical colleges | Medical research | Brain | Disease susceptibility | Genetic aspects | Gene mapping | Dimethylaniline monooxygenase (N-oxide-forming) | Intellectual disabilities | Index Medicus
Journal Article
Journal Article
Movement Disorders, ISSN 0885-3185, 03/2018, Volume 33, Issue 3, pp. 482 - 488
Journal Article