Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10

Por Pingault, Veronique, Pierre-Louis, Laurence, Chaoui, Asma, Verloes, Alain, Sarrazin, Elisabeth, Brandberg, Goran, Bondurand, Nadege, Uldall, Peter, Manouvrier-Hanu, Sylvie
Publicado no Am J Med Genet A (2014)

Mutations in HECW2 are associated with intellectual disability and epilepsy

Por Halvardson, Jonatan, Zhao, Jin J, Zaghlool, Ammar, Wentzel, Christian, Georgii-Hemming, Patrik, Månsson, Else, Ederth Sävmarker, Helena, Brandberg, Göran, Soussi Zander, Cecilia, Thuresson, Ann-Charlotte, Feuk, Lars
Publicado no J Med Genet (2016)

Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability

Por Zhao, Jin J., Halvardson, Jonatan, Zander, Cecilia S., Zaghlool, Ammar, Georgii‐Hemming, Patrik, Månsson, Else, Brandberg, Göran, Sävmarker, Helena E., Frykholm, Carina, Kuchinskaya, Ekaterina, Thuresson, Ann‐Charlotte, Feuk, Lars
Publicado no Am J Med Genet B Neuropsychiatr Genet (2017)

Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

Por Bjursell, Magnus K., Blom, Henk J., Cayuela, Jordi Asin, Engvall, Martin L., Lesko, Nicole, Balasubramaniam, Shanti, Brandberg, Göran, Halldin, Maria, Falkenberg, Maria, Jakobs, Cornelis, Smith, Desiree, Struys, Eduard, von Döbeln, Ulrika, Gustafsson, Claes M., Lundeberg, Joakim, Wedell, Anna
Publicado em 2011

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Por Haack, Tobias B., Ignatius, Erika, Calvo-Garrido, Javier, Iuso, Arcangela, Isohanni, Pirjo, Maffezzini, Camilla, Lönnqvist, Tuula, Suomalainen, Anu, Gorza, Matteo, Kremer, Laura S., Graf, Elisabeth, Hartig, Monika, Berutti, Riccardo, Paucar, Martin, Svenningsson, Per, Stranneheim, Henrik, Brandberg, Göran, Wedell, Anna, Kurian, Manju A., Hayflick, Susan A., Venco, Paola, Tiranti, Valeria, Strom, Tim M., Dichgans, Martin, Horvath, Rita, Holinski-Feder, Elke, Freyer, Christoph, Meitinger, Thomas, Prokisch, Holger, Senderek, Jan, Wredenberg, Anna, Carroll, Christopher J., Klopstock, Thomas
Publicado no Am J Hum Genet (2016)