PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis

Por Aggarwal, Varun, Dobrolet, Nancy, Fishberger, Steven, Zablah, Jenny, Jayakar, Parul, Ammous, Zineb
Publicado no Ann Pediatr Cardiol (2015)

Interruptions in the Expanded ATTCT Repeat of Spinocerebellar Ataxia Type 10: Repeat Purity as a Disease Modifier?

Por Matsuura, Tohru, Fang, Ping, Pearson, Christopher E., Jayakar, Parul, Ashizawa, Tetsuo, Roa, Benjamin B., Nelson, David L.
Publicado em 2006

MITOCHONDRIAL DNA DEPLETION SYNDROME DUE TO MUTATIONS IN THE RRM2B GENE

Por Bornstein, Belén, Area, Estela, Flanigan, Kevin M., Ganesh, Jaya, Jayakar, Parul, Swoboda, Kathryn J., Coku, Jorida, Naini, Ali, Shanske, Sara, Tanji, Kurenai, Hirano, Michio, DiMauro, Salvatore
Publicado em 2008

A Novel POLG Gene Mutation in 4 Children With Alpers-like Hepatocerebral Syndromes

Por Kurt, Bulent, Jaeken, Jaak, Van Hove, Johan, Lagae, Lieven, Löfgren, Ann, Everman, David B., Jayakar, Parul, Naini, Ali, Wierenga, Klaas J., Van Goethem, Gert, Copeland, William C., DiMauro, Salvatore
Publicado em 2010

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

Por Brunetti-Pierri, Nicola, Paciorkowski, Alex R, Ciccone, Roberto, Mina, Erika Della, Bonaglia, Maria Clara, Borgatti, Renato, Schaaf, Christian P, Sutton, V Reid, Xia, Zhilian, Jelluma, Naftha, Ruivenkamp, Claudia, Bertrand, Mary, de Ravel, Thomy J L, Jayakar, Parul, Belli, Serena, Rocchetti, Katia, Pantaleoni, Chiara, D'Arrigo, Stefano, Hughes, Jeff, Cheung, Sau Wai, Zuffardi, Orsetta, Stankiewicz, Pawel
Publicado em 2011

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

Por Bhoj, Elizabeth J., Li, Dong, Harr, Margaret, Edvardson, Shimon, Elpeleg, Orly, Chisholm, Elizabeth, Juusola, Jane, Douglas, Ganka, Guillen Sacoto, Maria J., Siquier-Pernet, Karine, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Narravula, Alekhya, Walke, Maria, Horner, Michele B., Day-Salvatore, Debra-Lynn, Jayakar, Parul, Vergano, Samantha A. Schrier, Tarnopolsky, Mark A., Hegde, Madhuri, Colleaux, Laurence, Crino, Peter, Hakonarson, Hakon
Publicado no Am J Hum Genet (2016)

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Por Horvath, Rita, Kemp, John P., Tuppen, Helen A. L., Hudson, Gavin, Oldfors, Anders, Marie, Suely K. N., Moslemi, Ali-Reza, Servidei, Serenella, Holme, Elisabeth, Shanske, Sara, Kollberg, Gittan, Jayakar, Parul, Pyle, Angela, Marks, Harold M., Holinski-Feder, Elke, Scavina, Mena, Walter, Maggie C., Çoku, Jorida, Günther-Scholz, Andrea, Smith, Paul M., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Lightowlers, Robert N., Hirano, Michio, Lochmüller, Hanns, Taylor, Robert W., Chinnery, Patrick F., Tulinius, Mar, DiMauro, Salvatore
Publicado em 2009