Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia

Por Masuho, Ikuo, Fang, Mingyan, Geng, Chunyu, Zhang, Jianguo, Jiang, Hui, Özgul, Riza Köksal, Yılmaz, Didem Yücel, Yalnızoğlu, Dilek, Yüksel, Deniz, Yarrow, Anna, Myers, Angela, Burn, Sabrina C., Crotwell, Patricia L., Padilla-Lopez, Sergio, Dursun, Ali, Martemyanov, Kirill A., Kruer, Michael C.
Publicado no Neurol Genet (2016)

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

Por Hirst, Jennifer, Madeo, Marianna, Smets, Katrien, Edgar, James R., Schols, Ludger, Li, Jun, Yarrow, Anna, Deconinck, Tine, Baets, Jonathan, Van Aken, Elisabeth, De Bleecker, Jan, Datiles, Manuel B., Roda, Ricardo H., Liepert, Joachim, Züchner, Stephan, Mariotti, Caterina, De Jonghe, Peter, Blackstone, Craig, Kruer, Michael C.
Publicado no Neurol Genet (2016)

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

Por Madeo, Marianna, Stewart, Michelle, Sun, Yuyang, Sahir, Nadia, Wiethoff, Sarah, Chandrasekar, Indra, Yarrow, Anna, Rosenfeld, Jill A., Yang, Yaping, Cordeiro, Dawn, McCormick, Elizabeth M., Muraresku, Colleen C., Jepperson, Tyler N., McBeth, Lauren J., Seidahmed, Mohammed Zain, El Khashab, Heba Y., Hamad, Muddathir, Azzedine, Hamid, Clark, Karl, Corrochano, Silvia, Wells, Sara, Elting, Mariet W., Weiss, Marjan M., Burn, Sabrina, Myers, Angela, Landsverk, Megan, Crotwell, Patricia L., Waisfisz, Quinten, Wolf, Nicole I., Nolan, Patrick M., Padilla-Lopez, Sergio, Houlden, Henry, Lifton, Richard, Mane, Shrikant, Singh, Brij B., Falk, Marni J., Mercimek-Mahmutoglu, Saadet, Bilguvar, Kaya, Salih, Mustafa A., Acevedo-Arozena, Abraham, Kruer, Michael C.
Publicado no Am J Hum Genet (2016)