A Prospective Cohort Study of the Prevalence of Growth, Facial, and Central Nervous System Abnormalities in Children with Heavy Prenatal Alcohol Exposure

por Kuehn, Devon, Aros, Sofía, Cassorla, Fernando, Avaria, Maria, Unanue, Nancy, Henriquez, Cecilia, Kleinsteuber, Karin, Conca, Barbara, Avila, Alejandra, Carter, Tonia C., Conley, Mary R., Troendle, James, Mills, James L.
Publicado em 2012

Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis

por Smalley, Susan V., Preiss, Yudith, Suazo, José, Vega, Javier Andrés, Angellotti, Isidora, Lagos, Carlos F., Rivera, Enzo, Kleinsteuber, Karin, Campion, Javier, Martínez, J. Alfredo, Maiz, Alberto, Santos, José Luis
Publicado no Genet Mol Biol (2015)

Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

por Domínguez-González, Cristina, Madruga-Garrido, Marcos, Mavillard, Fabiola, Garone, Caterina, Aguirre-Rodríguez, Francisco Javier, Donati, M. Alice, Kleinsteuber, Karin, Martí, Itxaso, Martín-Hernández, Elena, Morealejo-Aycinena, Juan P., Munell, Francina, Nascimento, Andrés, Kalko, Susana G., Sardina, M. Dolores, del Vayo, Concepcion Álvarez, Serrano, Olga, Long, Yuelin, Tu, Yuqi, Levin, Bruce, Thompson, John L. P., Engelstad, Kristen, Uddin, Jasim, Torres-Torronteras, Javier, Jimenez-Mallebrera, Cecilia, Martí, Ramon, Paradas, Carmen, Hirano, Michio
Publicado no Ann Neurol (2019)

International retrospective natural history study of LMNA-related congenital muscular dystrophy

por Ben Yaou, Rabah, Yun, Pomi, Dabaj, Ivana, Norato, Gina, Donkervoort, Sandra, Xiong, Hui, Nascimento, Andrés, Maggi, Lorenzo, Sarkozy, Anna, Monges, Soledad, Bertoli, Marta, Komaki, Hirofumi, Mayer, Michèle, Mercuri, Eugenio, Zanoteli, Edmar, Castiglioni, Claudia, Marini-Bettolo, Chiara, D’Amico, Adele, Deconinck, Nicolas, Desguerre, Isabelle, Erazo-Torricelli, Ricardo, Gurgel-Giannetti, Juliana, Ishiyama, Akihiko, Kleinsteuber, Karin S, Lagrue, Emmanuelle, Laugel, Vincent, Mercier, Sandra, Messina, Sonia, Politano, Luisa, Ryan, Monique M, Sabouraud, Pascal, Schara, Ulrike, Siciliano, Gabriele, Vercelli, Liliana, Voit, Thomas, Yoon, Grace, Alvarez, Rachel, Muntoni, Francesco, Pierson, Tyler M, Gómez-Andrés, David, Reghan Foley, A, Quijano-Roy, Susana, Bönnemann, Carsten G, Bonne, Gisèle
Publicado no Brain Commun (2021)

Retrospective natural history of thymidine kinase 2 deficiency

por Garone, Caterina, Taylor, Robert W, Nascimento, Andrés, Poulton, Joanna, Fratter, Carl, Domínguez-González, Cristina, Evans, Julie C, Loos, Mariana, Isohanni, Pirjo, Suomalainen, Anu, Ram, Dipak, Hughes, M Imelda, McFarland, Robert, Barca, Emanuele, Lopez Gomez, Carlos, Jayawant, Sandeep, Thomas, Neil D, Manzur, Adnan Y, Kleinsteuber, Karin, Martin, Miguel A, Kerr, Timothy, Gorman, Grainne S, Sommerville, Ewen W, Chinnery, Patrick F, Hofer, Monika, Karch, Christoph, Ralph, Jeffrey, Cámara, Yolanda, Madruga-Garrido, Marcos, Domínguez-Carral, Jana, Ortez, Carlos, Emperador, Sonia, Montoya, Julio, Chakrapani, Anupam, Kriger, Joshua F, Schoenaker, Robert, Levin, Bruce, Thompson, John L P, Long, Yuelin, Rahman, Shamima, Donati, Maria Alice, DiMauro, Salvatore, Hirano, Michio
Publicado no J Med Genet (2018)