Pseudopapilledema in Cockayne syndrome

por Brodsky, Michael C., Renaud, Deborah L.
Publicado 2021

Neuropsychological Functioning in Alexander Disease: A Case Series

por Kirsch, Alexandra C., McCall, Dana M., Lange, Hadley, Renaud, Deborah, Brown, Tanya, Zaccariello, Michael J.
Publicado 2021

Expansion of PURA-Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report

por Boczek, Nicole J., Macke, Erica L., Kemppainen, Jennifer, Klee, Eric W., Renaud, Deborah L., Gavrilova, Ralitza H.
Publicado 2020

Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants

por Gupta, Aditi, Ewing, Sarah A., Renaud, Deborah L., Hasadsri, Linda, Raymond, Kimiyo M., Klee, Eric W., Gavrilova, Ralitza H.
Publicado 2019

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood‐onset beta‐mannosidosis

por Lund, Troy C., Miller, Weston P., Eisengart, Julie B., Simmons, Katrina, Pollard, Laura, Renaud, Deborah L., Wenger, David A., Patterson, Marc C., Orchard, Paul J
Publicado 2019

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2

por Blackburn, Patrick R., Schultz, Matthew J., Lahner, Carrie A., Li, Dong, Bhoj, Elizabeth, Fisher, Laura J., Renaud, Deborah L., Kenney, Amy, Ibrahim, Niema, Hashem, Mais, Zain Seidahmed, Mohammed, Hasadsri, Linda, Schrier Vergano, Samantha A., Alkuraya, Fowzan S., Lanpher, Brendan C.
Publicado 2020

CSF and Blood Levels of GFAP in Alexander Disease

por Jany, Paige L., Agosta, Guillermo E., Benko, William S., Eickhoff, Jens C., Keller, Stephanie R., Köehler, Wolfgang, Koeller, David, Mar, Soe, Naidu, Sakkubai, Marie Ness, Jayne, Pareyson, Davide, Renaud, Deborah L., Salsano, Ettore, Schiffmann, Raphael, Simon, Julie, Vanderver, Adeline, Eichler, Florian, van der Knaap, Marjo S., Messing, Albee
Publicado 2015

Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy

por Perrier, Stefanie, Gauquelin, Laurence, Fallet-Bianco, Catherine, Dishop, Megan K., Michell-Robinson, Mackenzie A., Tran, Luan T., Guerrero, Kether, Darbelli, Lama, Srour, Myriam, Petrecca, Kevin, Renaud, Deborah L., Saito, Michael, Cohen, Seth, Leiz, Steffen, Alhaddad, Bader, Haack, Tobias B., Tejera-Martin, Ingrid, Monton, Fernando I., Rodriguez-Espinosa, Norberto, Pohl, Daniela, Nageswaran, Savithri, Grefe, Annette, Glamuzina, Emma, Bernard, Geneviève
Publicado 2020

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

por Lin, Sheng-Jia, Vona, Barbara, Barbalho, Patricia G, Kaiyrzhanov, Rauan, Maroofian, Reza, Petree, Cassidy, Severino, Mariasavina, Stanley, Valentina, Varshney, Pratishtha, Bahena, Paulina, Alzahrani, Fatema, Alhashem, Amal, Pagnamenta, Alistair T, Aubertin, Gudrun, Estrada-Veras, Juvianee I, Hernández, Héctor Adrián Díaz, Mazaheri, Neda, Oza, Andrea, Thies, Jenny, Renaud, Deborah L, Dugad, Sanmati, McEvoy, Jennifer, Sultan, Tipu, Pais, Lynn S, Tabarki, Brahim, Villalobos-Ramirez, Daniel, Rad, Aboulfazl, Galehdari, Hamid, Ashrafzadeh, Farah, Sahebzamani, Afsaneh, Saeidi, Kolsoum, Torti, Erin, Elloumi, Houda Z, Mora, Sara, Palculict, Timothy B, Yang, Hui, Wren, Jonathan D, Fowler, Ben, Joshi, Manali, Behra, Martine, Burgess, Shawn M, Nath, Swapan K, Hanna, Michael G, Kenna, Margaret, Merritt, J Lawrence, Houlden, Henry, Karimiani, Ehsan Ghayoor, Zaki, Maha S, Haaf, Thomas, Alkuraya, Fowzan S, Gleeson, Joseph G, Varshney, Gaurav K
Publicado 2021

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

por Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth
Publicado 2020