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Baez-Nieto, David ORCID: 0000-0002-2238-8486, Allen, Andrew ORCID: 0000-0002-7232-2143, Akers-Campbell, Seth ORCID: 0000-0002-3214-5883, Yang, Lingling, Budnik, Nikita, Pupo, Amaury, Shin, Young-Cheul, Genovese, Giulio, Liao, Maofu, Perez-Palma, Eduardo, Heyne, Henrike ORCID: 0000-0001-9893-3850, Lal, Dennis, Lipscombe, Diane and Pan, Jen Q. (2022). Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort. Brain, 145 (5). S. 1839 - 1854. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2156
Groen, Justus L., Andrade, Arturo, Ritz, Katja, Jalalzadeh, Hamid, Haagmans, Martin, Bradley, Ted E. J., Jongejan, Aldo, Verbeek, Dineke S., Nuernberg, Peter, Denome, Sylvia, Hennekam, Raoul C. M., Lipscombe, Diane, Baas, Frank ORCID: 0000-0003-3912-5428 and Tijssen, Marina A. J. (2015). CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. Hum. Mol. Genet., 24 (4). S. 987 - 994. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083
Groen, Justus L., Andrade, Arturo, Ritz, Katja, Jalalzadeh, Hamid, Haagmans, Martin, Bradley, Ted E. J., Jongejan, Aldo, Verbeek, Dineke S., Nuernberg, Peter, Denome, Sylvia, Hennekam, Raoul C. M., Lipscombe, Diane, Baas, Frank ORCID: 0000-0003-3912-5428 and Tijssen, Marina A. J. (2015). CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. Hum. Mol. Genet., 24 (4). S. 987 - 994. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083
O'Hern, Patrick J., Goncalves, Ines do Carmo G., Brecht, Johanna, Soto, Eduardo Javier Lopes, Simon, Jonah, Chapkis, Natalie ORCID: 0000-0001-5158-0779, Lipscombe, Diane, Kye, Min Jeong ORCID: 0000-0002-1323-7256 and Hart, Anne C. (2017). Decreased microRNA levels lead to deleterious increases in neuronal M2 muscarinic receptors in Spinal Muscular Atrophy models. eLife, 6. CAMBRIDGE: ELIFE SCIENCES PUBLICATIONS LTD. ISSN 2050-084X