Friedreich Ataxia in Classical Galactosaemia

Por Neville, Siobhán, O’Sullivan, Siobhan, Sweeney, Bronagh, Lynch, Bryan, Hanrahan, Donncha, Knerr, Ina, Lynch, Sally Ann, Crushell, Ellen
Publicado no JIMD Rep (2015)

Device Thrombogenicity Emulation: A Novel Method for Optimizing Mechanical Circulatory Support Device Thromboresistance

Por Girdhar, Gaurav, Xenos, Michalis, Alemu, Yared, Chiu, Wei-Che, Lynch, Bryan E., Jesty, Jolyon, Einav, Shmuel, Slepian, Marvin J., Bluestein, Danny
Publicado em 2012

Pseudoexon activation increases phenotype severity in a Becker muscular dystrophy patient

Por Greer, Kane, Mizzi, Kayla, Rice, Emily, Kuster, Lukas, Barrero, Roberto A, Bellgard, Matthew I, Lynch, Bryan J, Foley, Aileen Reghan, O Rathallaigh, Eoin, Wilton, Steve D, Fletcher, Sue
Publicado no Mol Genet Genomic Med (2015)

Disturbed Neuronal ER-Golgi Sorting of Unassembled Glycine Receptors Suggests Altered Subcellular Processing Is a Cause of Human Hyperekplexia

Por Schaefer, Natascha, Kluck, Christoph J., Price, Kerry L., Meiselbach, Heike, Vornberger, Nadine, Schwarzinger, Stephan, Hartmann, Stephanie, Langlhofer, Georg, Schulz, Solveig, Schlegel, Nadja, Brockmann, Knut, Lynch, Bryan, Becker, Cord-Michael, Lummis, Sarah C.R., Villmann, Carmen
Publicado no J Neurosci (2015)

SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype

Por Peall, Kathryn J., Kurian, Manju A., Wardle, Mark, Waite, Adrian J., Hedderly, Tammy, Lin, Jean-Pierre, Smith, Martin, Whone, Alan, Pall, Hardev, White, Cathy, Lux, Andrew, Jardine, Philip E., Lynch, Bryan, Kirov, George, O’Riordan, Sean, Samuel, Michael, Lynch, Timothy, King, Mary D., Chinnery, Patrick F., Warner, Thomas T., Blake, Derek J., Owen, Michael J., Morris, Huw R.
Publicado no J Neurol (2014)

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

Por Peall, Kathryn J., Smith, Daniel J., Kurian, Manju A., Wardle, Mark, Waite, Adrian J., Hedderly, Tammy, Lin, Jean-Pierre, Smith, Martin, Whone, Alan, Pall, Hardev, White, Cathy, Lux, Andrew, Jardine, Philip, Bajaj, Narinder, Lynch, Bryan, Kirov, George, O’Riordan, Sean, Samuel, Michael, Lynch, Timothy, King, Mary D., Chinnery, Patrick F., Warner, Thomas T., Blake, Derek J., Owen, Michael J., Morris, Huw R.
Publicado em 2013

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Por Heinzen, Erin L., Swoboda, Kathryn J., Hitomi, Yuki, Gurrieri, Fiorella, Nicole, Sophie, de Vries, Boukje, Tiziano, F. Danilo, Fontaine, Bertrand, Walley, Nicole M., Heavin, Sinéad, Panagiotakaki, Eleni, Fiori, Stefania, Abiusi, Emanuela, Di Pietro, Lorena, Sweney, Matthew T., Newcomb, Tara M., Viollet, Louis, Huff, Chad, Jorde, Lynn B., Reyna, Sandra P., Murphy, Kelley J., Shianna, Kevin V., Gumbs, Curtis E., Little, Latasha, Silver, Kenneth, Ptác̆ek, Louis J., Haan, Joost, Ferrari, Michel D., Bye, Ann M., Herkes, Geoffrey K., Whitelaw, Charlotte M., Webb, David, Lynch, Bryan J., Uldall, Peter, King, Mary D., Scheffer, Ingrid E., Neri, Giovanni, Arzimanoglou, Alexis, van den Maagdenberg, Arn M.J.M., Sisodiya, Sanjay M., Mikati, Mohamad A., Goldstein, David B., Nicole, Sophie, Gurrieri, Fiorella, Neri, Giovanni, de Vries, Boukje, Koelewijn, Stephany, Kamphorst, Jessica, Geilenkirchen, Marije, Pelzer, Nadine, Laan, Laura, Haan, Joost, Ferrari, Michel, van den Maagdenberg, Arn, Zucca, Claudio, Bassi, Maria Teresa, Franchini, Filippo, Vavassori, Rosaria, Giannotta, Melania, Gobbi, Giuseppe, Granata, Tiziana, Nardocci, Nardo, De Grandis, Elisa, Veneselli, Edvige, Stagnaro, Michela, Gurrieri, Fiorella, Neri, Giovanni, Vigevano, Federico, Panagiotakaki, Eleni, Oechsler, Claudia, Arzimanoglou, Alexis, Nicole, Sophie, Giannotta, Melania, Gobbi, Giuseppe, Ninan, Miriam, Neville, Brian, Ebinger, Friedrich, Fons, Carmen, Campistol, Jaume, Kemlink, David, Nevsimalova, Sona, Laan, Laura, Peeters-Scholte, Cacha, van den Maagdenberg, Arn, Casaer, Paul, Casari, Giorgio, Sange, Guenter, Spiel, Georg, Boneschi, Filippo Martinelli, Zucca, Claudio, Bassi, Maria Teresa, Schyns, Tsveta, Crawley, Francis, Poncelin, Dominique, Vavassori, Rosaria
Publicado em 2012