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Journal Article
Mancini, Cecilia 
ORCID: 0000-0003-1282-0404, Orsi, Laura, Guo, Yiran, Li, Jiankang, Chen, Yulan, Wang, Fengxiang, Tian, Lifeng, Liu, Xuanzhu, Zhang, Jianguo, Jiang, Hui, Nmezi, Bruce Shike, Tatsuta, Takashi, Giorgio, Elisa ORCID: 0000-0003-4076-4649, Di Gregorio, Eleonora, Cavalieri, Simona, Pozzi, Elisa, Mortara, Paolo, Caglio, Maria Marcella, Balducci, Alessandro, Pinessi, Lorenzo, Langer, Thomas ORCID: 0000-0003-1250-1462, Padiath, Quasar S., Hakonarson, Hakon, Zhang, Xiuqing and Brusco, Alfredo ORCID: 0000-0002-8318-7231
(2015).
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
BMC Med. Genet., 16.
LONDON:
BIOMED CENTRAL LTD.
ISSN 1471-2350
Mancini, Cecilia ORCID: 0000-0003-1282-0404, Orsi, Laura, Guo, Yiran, Li, Jiankang, Chen, Yulan, Wang, Fengxiang, Tian, Lifeng, Liu, Xuanzhu, Zhang, Jianguo, Jiang, Hui, Nmezi, Bruce Shike, Tatsuta, Takashi, Giorgio, Elisa ORCID: 0000-0003-4076-4649, Di Gregorio, Eleonora, Cavalieri, Simona, Pozzi, Elisa, Mortara, Paolo, Caglio, Maria Marcella, Balducci, Alessandro, Pinessi, Lorenzo, Langer, Thomas ORCID: 0000-0003-1250-1462, Padiath, Quasar S., Hakonarson, Hakon, Zhang, Xiuqing and Brusco, Alfredo ORCID: 0000-0002-8318-7231
(2015).
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
BMC Med. Genet., 16.
LONDON:
BIOMED CENTRAL LTD.
ISSN 1471-2350
Pavinato, Lisa ORCID: 0000-0002-7630-8365, Nematian-Ardestani, Ehsan, Zonta, Andrea, De Rubeis, Silvia, Buxbaum, Joseph, Mancini, Cecilia, Bruselles, Alessandro ORCID: 0000-0002-1556-4998, Tartaglia, Marco, Pessia, Mauro ORCID: 0000-0002-2857-6795, Tucker, Stephen J., D'Adamo, Maria Cristina ORCID: 0000-0002-6758-6064 and Brusco, Alfredo
(2021).
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity.
Int. J. Mol. Sci., 22 (11).
BASEL:
MDPI.
ISSN 1422-0067