Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history

por Carson, Vincent J., Puffenberger, Erik G., Bowser, Lauren E., Brigatti, Karlla W., Young, Millie, Korulczyk, Dominika, Rodrigues, Ashlin S., Loeven, KaLynn K., Strauss, Kevin A.
Publicado 2018

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

por Hershkovitz, Tova, Kurolap, Alina, Tal, Galit, Paperna, Tamar, Mory, Adi, Staples, Jeffrey, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Dumin, Elena, Saada, Ann, Mandel, Hanna, Baris Feldman, Hagit
Publicado 2020

Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B

por Williams, Katie B., Horst, Michael, Young, Millie, Pascua, Christine, Puffenberger, Erik G., Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Shuldiner, Alan R., Gidding, Samuel, Strauss, Kevin A., Chowdhury, Devyani
Publicado 2022

Preliminary Safety and Tolerability of a Novel Subcutaneous Intrathecal Catheter System for Repeated Outpatient Dosing of Nusinersen to Children and Adults With Spinal Muscular Atr...

por Strauss, Kevin A., Carson, Vincent J., Brigatti, Karlla W., Young, Millie, Robinson, Donna L., Hendrickson, Christine, Fox, Michael D., Reed, Robert M., Puffenberger, Erik G., Mackenzie, William, Miller, Freeman
Publicado 2018

WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy

por Strauss, Kevin A., Carson, Vincent J., Bolettieri, Emilienne, Everett, Mariah, Bollinger, Ashton, Bowser, Lauren E., Beiler, Keturah, Young, Millie, Edvardson, Simon, Fraenkel, Nitay, D'Amico, Adele, Bertini, Enrico, Lingappa, Lokesh, Chowdhury, Devyani, Lowes, Linda P., Iammarino, Megan, Alfano, Lindsay N., Brigatti, Karlla W.
Publicado 2023

Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder

por de Jong, Job O., Llapashtica, Ceyda, Genestine, Matthieu, Strauss, Kevin, Provenzano, Frank, Sun, Yan, Zhu, Huixiang, Cortese, Giuseppe P., Brundu, Francesco, Brigatti, Karlla W., Corneo, Barbara, Migliori, Bianca, Tomer, Raju, Kushner, Steven A., Kellendonk, Christoph, Javitch, Jonathan A., Xu, Bin, Markx, Sander
Publicado 2021

De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation

por Mendoza-Ferreira, Natalia, Karakaya, Mert, Cengiz, Nur, Beijer, Danique, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Fuhrmann, Nico, Hölker, Irmgard, Thelen, Maximilian P., Zetzsche, Sebastian, Rombo, Roman, Puffenberger, Erik G., De Jonghe, Peter, Deconinck, Tine, Zuchner, Stephan, Strauss, Kevin A., Carson, Vincent, Schrank, Bertold, Wunderlich, Gilbert, Baets, Jonathan, Wirth, Brunhilde
Publicado 2020

Frataxin levels in peripheral tissue in Friedreich ataxia

por Lazaropoulos, Michael, Dong, Yina, Clark, Elisia, Greeley, Nathaniel R, Seyer, Lauren A, Brigatti, Karlla W, Christie, Carlton, Perlman, Susan L, Wilmot, George R, Gomez, Christoper M, Mathews, Katherine D, Yoon, Grace, Zesiewicz, Theresa, Hoyle, Chad, Subramony, Sub H, Brocht, Alicia F, Farmer, Jennifer M, Wilson, Robert B, Deutsch, Eric C, Lynch, David R
Publicado 2015

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

por Scala, Marcello, Mojarrad, Majid, Riazuddin, Saima, Brigatti, Karlla W, Ammous, Zineb, Cohen, Julie S, Hosny, Heba, Usmani, Muhammad A, Shahzad, Mohsin, Riazuddin, Sheikh, Stanley, Valentina, Eslahi, Atiye, Person, Richard E, Elbendary, Hasnaa M, Comi, Anne M, Poskitt, Laura, Salpietro, Vincenzo, Genomics, Queen Square, Rosenfeld, Jill A, Williams, Katie B, Marafi, Dana, Xia, Fan, Biderman Waberski, Marta, Zaki, Maha S, Gleeson, Joseph, Puffenberger, Erik, Houlden, Henry, Maroofian, Reza
Publicado 2020

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

por Di Donato, Nataliya, Jean, Ying Y., Maga, A. Murat, Krewson, Briana D., Shupp, Alison B., Avrutsky, Maria I., Roy, Achira, Collins, Sarah, Olds, Carissa, Willert, Rebecca A., Czaja, Agnieszka M., Johnson, Rachel, Stover, Jessi A., Gottlieb, Steven, Bartholdi, Deborah, Rauch, Anita, Goldstein, Amy, Boyd-Kyle, Victoria, Aldinger, Kimberly A., Mirzaa, Ghayda M., Nissen, Anke, Brigatti, Karlla W., Puffenberger, Erik G., Millen, Kathleen J., Strauss, Kevin A., Dobyns, William B., Troy, Carol M., Jinks, Robert N.
Publicado 2016

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

por Grange, Laura J., Reynolds, John J., Ullah, Farid, Isidor, Bertrand, Shearer, Robert F., Latypova, Xenia, Baxley, Ryan M., Oliver, Antony W., Ganesh, Anil, Cooke, Sophie L., Jhujh, Satpal S., McNee, Gavin S., Hollingworth, Robert, Higgs, Martin R., Natsume, Toyoaki, Khan, Tahir, Martos-Moreno, Gabriel Á., Chupp, Sharon, Mathew, Christopher G., Parry, David, Simpson, Michael A., Nahavandi, Nahid, Yüksel, Zafer, Drasdo, Mojgan, Kron, Anja, Vogt, Petra, Jonasson, Annemarie, Seth, Saad Ahmed, Gonzaga-Jauregui, Claudia, Brigatti, Karlla W., Stegmann, Alexander P. A., Kanemaki, Masato, Josifova, Dragana, Uchiyama, Yuri, Oh, Yukiko, Morimoto, Akira, Osaka, Hitoshi, Ammous, Zineb, Argente, Jesús, Matsumoto, Naomichi, Stumpel, Constance T.R.M., Taylor, Alexander M. R., Jackson, Andrew P., Bielinsky, Anja-Katrin, Mailand, Niels, Le Caignec, Cedric, Davis, Erica E., Stewart, Grant S.
Publicado 2022