A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes von Flannery, Kyle P., Safwat, Sylvia, Matsell, Eli, Battula, Namarata, Hamed, Ahlam A. A., Mohamed, Inaam N., Elseed, Maha A., Koko, Mahmoud, Abubaker, Rayan, Abozar, Fatima, Elsayed, Liena E. O., Bhise, Vikram, Molday, Robert S., Salih, Mustafa A., Yahia, Ashraf, Manzini, M. Chiara

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Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B von Bione, S., Rizzolio, F., Sala, C., Ricotti, R., Goegan, M., Manzini, M.C., Battaglia, R., Marozzi, A., Vegetti, W., Dalprà, L., Crosignani, P.G., Ginelli, E., Nappi, R., Bernabini, S., Bruni, V., Torricelli, F., Zuffardi, O., Toniolo, D.

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Kainate Receptors Expressed by a Subpopulation of Developing Nociceptors Rapidly Switch from High to Low Ca2+ Permeability von Lee, C. Justin, Kong, Haeyoung, Manzini, M. Chiara, Albuquerque, Cristovao, Chao, Moses V, MacDermott, Amy B

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Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy von Del Caño-Ochoa, F, Ng, BG, Abedalthagafi, M, Almannai, M, Cohn, RD, Costain, G, Elpeleg, O, Houlden, H, Karimiani, EG, Liu, P, Manzini, MC, Maroofian, R, Muriello, M, Al-Otaibi, A, Patel, H, Shimon, E, Sutton, VR, Toosi, MB, Wolfe, LA, Rosenfeld, JA, Freeze, HH, Ramón-Maiques, S

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Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features von Scala, M, Chua, GL, Chin, CF, Alsaif, HS, Borovikov, A, Riazuddin, S, Manzini, MC, Severino, M, Kuk, A, Fan, H, Jamshidi, Y, Toosi, MB, Doosti, M, Karimiani, EG, Salpietro, V, Dadali, E, Baydakova, G, Konovalov, F, Lozier, E, O'Connor, E, Sabr, Y, Alfaifi, A, Ashrafzadeh, F, Striano, P, Zara, F, Alkuraya, FS, Houlden, H, Maroofian, R, Silver, DL

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De novo and biallelic DEAF1 variants cause a phenotypic spectrum von Nabais Sá, MJ, Jensik, PJ, McGee, SR, Parker, MJ, Lahiri, N, McNeil, EP, Kroes, HY, Hagerman, RJ, Harrison, RE, Montgomery, T, Splitt, M, Palmer, EE, Sachdev, RK, Mefford, HC, Scott, AA, Martinez-Agosto, JA, Lorenz, R, Orenstein, N, Berg, JN, Amiel, J, Heron, D, Keren, B, Cobben, JM, Menke, LA, Marco, EJ, Graham, JM, Pierson, TM, Karimiani, EG, Maroofian, R, Manzini, MC, Cauley, ES, Colombo, R, Odent, S, Dubourg, C, Phornphutkul, C, de Brouwer, APM, de Vries, BBA, Vulto-vanSilfhout, AT, Palmer, Elizabeth

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Assistive Technology Accessibility and Abandonment: Challenges for Occupational Therapists von Manzini, Mariana G, Cruz, Daniel MC, Emmel, Maria Luisa G, Braga Mendes, Paulo V

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