Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders

Por Dias, Cristina, Rupps, Rosemarie, Millar, Benjamin, Choi, Kunho, Marra, Marco, Demos, Michelle, Kratz, Lisa E, Boerkoel, Cornelius F
Publicado em 2014

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

Por Demos, Michelle K, van Karnebeek, Clara DM, Ross, Colin JD, Adam, Shelin, Shen, Yaoqing, Zhan, Shing Hei, Shyr, Casper, Horvath, Gabriella, Suri, Mohnish, Fryer, Alan, Jones, Steven JM, Friedman, Jan M
Publicado em 2014

Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy

Por Bai, Yun-Fei, Chiu, Michelle, Chan, Elizabeth S., Axerio-Cilies, Peter, Lu, Jie, Huh, Linda, Connolly, Mary B., Guella, Ilaria, Farrer, Matthew J., Xu, Zhi-Qing David, Liu, Lidong, Demos, Michelle, Wang, Yu Tian
Publicado no Mol Brain (2019)

Correction to: Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy

Por Bai, Yun-Fei, Chiu, Michelle, Chan, Elizabeth S., Axerio-Cilies, Peter, Lu, Jie, Huh, Linda, Connolly, Mary B., Guella, Ilaria, Farrer, Matthew J., Xu, Zhi-Qing David, Liu, Lidong, Demos, Michelle, Wang, Yu Tian
Publicado no Mol Brain (2020)

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation

Por Dias, Cristina, McDonald, Allison, Sincan, Murat, Rupps, Rosemarie, Markello, Thomas, Salvarinova, Ramona, Santos, Rui F, Menghrajani, Kamal, Ahaghotu, Chidi, Sutherland, Darren P, Fortuno, Edgardo S, Kollmann, Tobias R, Demos, Michelle, Friedman, Jan M, Speert, David P, Gahl, William A, Boerkoel, Cornelius F
Publicado em 2013

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy

Por Guella, Ilaria, Huh, Linda, McKenzie, Marna B., Toyota, Eric B., Bebin, E. Martina, Thompson, Michelle L., Cooper, Gregory M., Evans, Daniel M., Buerki, Sarah E., Adam, Shelin, Van Allen, Margot I., Nelson, Tanya N., Connolly, Mary B., Farrer, Matthew J., Demos, Michelle
Publicado no Neurol Genet (2016)

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

Por Guella, Ilaria, McKenzie, Marna B., Evans, Daniel M., Buerki, Sarah E., Toyota, Eric B., Van Allen, Margot I., Suri, Mohnish, Elmslie, Frances, Simon, Marleen E.H., van Gassen, Koen L.I., Héron, Delphine, Keren, Boris, Nava, Caroline, Connolly, Mary B., Demos, Michelle, Farrer, Matthew J.
Publicado no Am J Hum Genet (2017)

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Por Lehman, Anna, Thouta, Samrat, Mancini, Grazia M.S., Naidu, Sakkubai, van Slegtenhorst, Marjon, McWalter, Kirsty, Person, Richard, Mwenifumbo, Jill, Salvarinova, Ramona, Guella, Ilaria, McKenzie, Marna B., Datta, Anita, Connolly, Mary B., Kalkhoran, Somayeh Mojard, Poburko, Damon, Friedman, Jan M., Farrer, Matthew J., Demos, Michelle, Desai, Sonal, Claydon, Thomas
Publicado no Am J Hum Genet (2017)

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Por Faundes, Víctor, Newman, William G., Bernardini, Laura, Canham, Natalie, Clayton-Smith, Jill, Dallapiccola, Bruno, Davies, Sally J., Demos, Michelle K., Goldman, Amy, Gill, Harinder, Horton, Rachel, Kerr, Bronwyn, Kumar, Dhavendra, Lehman, Anna, McKee, Shane, Morton, Jenny, Parker, Michael J., Rankin, Julia, Robertson, Lisa, Temple, I. Karen, Banka, Siddharth
Publicado no Am J Hum Genet (2018)

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Por Wolf, Nicole I., Vanderver, Adeline, van Spaendonk, Rosalina M.L., Schiffmann, Raphael, Brais, Bernard, Bugiani, Marianna, Sistermans, Erik, Catsman-Berrevoets, Coriene, Kros, Johan M., Pinto, Pedro Soares, Pohl, Daniela, Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Fribourg, Sébastien, Demos, Michelle, Pizzino, Amy, Naidu, Sakkubai, Guerrero, Kether, van der Knaap, Marjo S., Bernard, Geneviève
Publicado no Neurology (2014)

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy

Por Demos, Michelle, Guella, Ilaria, DeGuzman, Conrado, McKenzie, Marna B., Buerki, Sarah E., Evans, Daniel M., Toyota, Eric B., Boelman, Cyrus, Huh, Linda L., Datta, Anita, Michoulas, Aspasia, Selby, Kathryn, Bjornson, Bruce H., Horvath, Gabriella, Lopez-Rangel, Elena, van Karnebeek, Clara D. M., Salvarinova, Ramona, Slade, Erin, Eydoux, Patrice, Adam, Shelin, Van Allen, Margot I., Nelson, Tanya N., Bolbocean, Corneliu, Connolly, Mary B., Farrer, Matthew J.
Publicado no Front Neurol (2019)

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

Por McLarren, Keith W., Severson, Tesa M., du Souich, Christèle, Stockton, David W., Kratz, Lisa E., Cunningham, David, Hendson, Glenda, Morin, Ryan D., Wu, Diane, Paul, Jessica E., An, Jianghong, Nelson, Tanya N., Chou, Athena, DeBarber, Andrea E., Merkens, Louise S., Michaud, Jacques L., Waters, Paula J., Yin, Jingyi, McGillivray, Barbara, Demos, Michelle, Rouleau, Guy A., Grzeschik, Karl-Heinz, Smith, Raffaella, Tarpey, Patrick S., Shears, Debbie, Schwartz, Charles E., Gecz, Jozef, Stratton, Michael R., Arbour, Laura, Hurlburt, Jane, Van Allen, Margot I., Herman, Gail E., Zhao, Yongjun, Moore, Richard, Kelley, Richard I., Jones, Steven J.M., Steiner, Robert D., Raymond, F. Lucy, Marra, Marco A., Boerkoel, Cornelius F.
Publicado em 2010