Investigation of Targetin, a Microtubule Binding Agent which Regresses the Growth of Pediatric High and Low Grade Gliomas

Por Ajeawung, Norbert F., Joshi, Harish C., Kamnasaran, Deepak
Publicado em 2013

In-Vitro and Ex-Vivo Investigations of the Microtubule Binding Drug Targetin on Angiogenesis

Por Ajeawung, Norbert F., Mononen, Lotta, Thorn, Andrea, Pin, Anne-Laure, Joshi, Harish C., Huot, Jacques, Kamnasaran, Deepak
Publicado em 2013

NPAS3 Demonstrates Features of a Tumor Suppressive Role in Driving the Progression of Astrocytomas

Por Moreira, Frederico, Kiehl, Tim-Rasmus, So, Kelvin, Ajeawung, Norbert F., Honculada, Carmelita, Gould, Peter, Pieper, Russell O., Kamnasaran, Deepak
Publicado em 2011

Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene

Por Zádori, Dénes, Szalárdy, Levente, Reisz, Zita, Kovacs, Gabor G., Maszlag-Török, Rita, Ajeawung, Norbert F., Vécsei, László, Campeau, Philippe M., Klivényi, Péter
Publicado no Front Neurol (2020)

Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1

Por Ajeawung, Norbert F., Nguyen, Thi Tuyet Mai, Lu, Linchao, Kucharski, Thomas J., Rousseau, Justine, Molidperee, Sirinart, Atienza, Joshua, Gamache, Isabel, Jin, Weidong, Plon, Sharon E., Lee, Brendan H., Teodoro, Jose G., Wang, Lisa L., Campeau, Philippe M.
Publicado no Am J Hum Genet (2019)

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome

Por Alessandri, Jean-Luc, Gordon, Christopher T., Jacquemont, Marie-Line, Gruchy, Nicolas, Ajeawung, Norbert F, Benoist, Guillaume, Oufadem, Myriam, Chebil, Asma, Duffourd, Yannis, Dumont, Coralie, Gérard, Marion, Kuentz, Paul, Jouan, Thibaud, Filippini, Francesca, Nguyen, Thi Tuyet Mai, Alibeu, Olivier, Bole-Feysot, Christine, Nitschké, Patrick, Omarjee, Asma, Ramful, Duksha, Randrianaivo, Hanitra, Doray, Bérénice, Faivre, Laurence, Amiel, Jeanne, Campeau, Philippe M., Thevenon, Julien
Publicado no Eur J Hum Genet (2018)

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

Por Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Sheridan, Eamonn, Ehresmann, Sophie, Rousseau, Justine, St-Denis, Anik, Chai, Guoliang, Ajeawung, Norbert F., Fairbrother, Laura, Reimschisel, Tyler, Bateman, Alexandra, Berry-Kravis, Elizabeth, Xia, Fan, Tardif, Jessica, Parry, David A., Logan, Clare V., Diggle, Christine, Bennett, Christopher P., Hattingh, Louise, Rosenfeld, Jill A., Perry, Michael Scott, Parker, Michael J., Le Deist, Françoise, Zaki, Maha S., Ignatius, Erika, Isohanni, Pirjo, Lönnqvist, Tuula, Carroll, Christopher J., Johnson, Colin A., Gleeson, Joseph G., Kinoshita, Taroh, Campeau, Philippe M.
Publicado no Am J Hum Genet (2017)

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

Por Yan, Kezhi, Rousseau, Justine, Littlejohn, Rebecca Okashah, Kiss, Courtney, Lehman, Anna, Rosenfeld, Jill A., Stumpel, Constance T.R., Stegmann, Alexander P.A., Robak, Laurie, Scaglia, Fernando, Nguyen, Thi Tuyet Mai, Fu, He, Ajeawung, Norbert F., Camurri, Maria Vittoria, Li, Lin, Gardham, Alice, Panis, Bianca, Almannai, Mohammed, Sacoto, Maria J. Guillen, Baskin, Berivan, Ruivenkamp, Claudia, Xia, Fan, Bi, Weimin, Cho, Megan T., Potjer, Thomas P., Santen, Gijs W.E., Parker, Michael J., Canham, Natalie, McKinnon, Margaret, Potocki, Lorraine, MacKenzie, Jennifer J., Roeder, Elizabeth R., Campeau, Philippe M., Yang, Xiang-Jiao
Publicado no Am J Hum Genet (2017)

TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features

Por Balestrini, Simona, Milh, Mathieu, Castiglioni, Claudia, Lüthy, Kevin, Finelli, Mattea J., Verstreken, Patrik, Cardon, Aaron, Stražišar, Barbara Gnidovec, Holder, J. Lloyd, Lesca, Gaetan, Mancardi, Maria M., Poulat, Anne L., Repetto, Gabriela M., Banka, Siddharth, Bilo, Leonilda, Birkeland, Laura E., Bosch, Friedrich, Brockmann, Knut, Cross, J. Helen, Doummar, Diane, Félix, Temis M., Giuliano, Fabienne, Hori, Mutsuki, Hüning, Irina, Kayserili, Hulia, Kini, Usha, Lees, Melissa M., Meenakshi, Girish, Mewasingh, Leena, Pagnamenta, Alistair T., Peluso, Silvio, Mey, Antje, Rice, Gregory M., Rosenfeld, Jill A., Taylor, Jenny C., Troester, Matthew M., Stanley, Christine M., Ville, Dorothee, Walkiewicz, Magdalena, Falace, Antonio, Fassio, Anna, Lemke, Johannes R., Biskup, Saskia, Tardif, Jessica, Ajeawung, Norbert F., Tolun, Aslihan, Corbett, Mark, Gecz, Jozef, Afawi, Zaid, Howell, Katherine B., Oliver, Karen L., Berkovic, Samuel F., Scheffer, Ingrid E., de Falco, Fabrizio A., Oliver, Peter L., Striano, Pasquale, Zara, Federico, Campeau, Phillipe M., Sisodiya, S.M.
Publicado no Neurology (2016)