Orthopaedic manifestations of glutaric acidemia Type 1

por Imerci, Ahmet, Strauss, Kevin A., Oleas-Santillan, Geovanny F., Miller, Freeman
Publicado 2020

Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery

por Yang, Huiya, Brown, Robert H., Wang, Dan, Strauss, Kevin A., Gao, Guangping
Publicado 2023

Domino liver transplant from a donor with maple syrup urine disease into a recipient with phenylketonuria

por Raghu, Vikram K., Dobrowolski, Steven F., Sindhi, Rakesh, Strauss, Kevin A., Mazariegos, George V., Vockley, Jerry, Soltys, Kyle
Publicado 2022

Cartilage hair hypoplasia: characteristics and orthopaedic manifestations

por Riley, Patrick, Weiner, Dennis S., Leighley, Bonnie, Jonah, David, Morton, D. Holmes, Strauss, Kevin A., Bober, Michael B., Dicintio, Martin S.
Publicado 2015

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: Cobalamin C deficiency (cblC).()

por Manoli, Irini, Myles, Jennifer G., Sloan, Jennifer L., Carrillo-Carrasco, Nuria, Morava, Eva, Strauss, Kevin A., Morton, Holmes, Venditti, Charles P.
Publicado 2015

Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency

por Motzek, Antje, Knežević, Jelena, Switzeny, Olivier J., Cooper, Alexis, Barić, Ivo, Beluzić, Robert, Strauss, Kevin A., Puffenberger, Erik G., Mudd, S. Harvey, Vugrek, Oliver, Zechner, Ulrich
Publicado 2016

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

Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy

por Day, John W., Mendell, Jerry R., Mercuri, Eugenio, Finkel, Richard S., Strauss, Kevin A., Kleyn, Aaron, Tauscher-Wisniewski, Sitra, Tukov, Francis Fonyuy, Reyna, Sandra P., Chand, Deepa H.
Publicado 2021

Correction to: Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy

por Day, John W., Mendell, Jerry R., Mercuri, Eugenio, Finkel, Richard S., Strauss, Kevin A., Kleyn, Aaron, Tauscher-Wisniewski, Sitra, Tukov, Francis Fonyuy, Reyna, Sandra P., Chand, Deepa H.
Publicado 2021

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

A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder

por Strauss, Kevin A., Markx, Sander, Georgi, Benjamin, Paul, Steven M., Jinks, Robert N., Hoshi, Toshinori, McDonald, Ann, First, Michael B., Liu, Wencheng, Benkert, Abigail R., Heaps, Adam D., Tian, Yutao, Chakravarti, Aravinda, Bucan, Maja, Puffenberger, Erik G.
Publicado 2014

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

Clinical and genetic validity of quantitative bipolarity

por Bruce, Heather A., Kochunov, Peter, Mitchell, Braxton, Strauss, Kevin A., Ament, Seth A., Rowland, Laura M., Du, Xiaoming, Fisseha, Feven, Kavita, Thangavelu, Chiappelli, Joshua, Wisner, Krista, Sampath, Hemalatha, Chen, Shuo, Kvarta, Mark D., Seneviratne, Chamindi, Postolache, Teodor T., Bellon, Alfredo, McMahon, Francis J., Shuldiner, Alan, Elliot Hong, L.
Publicado 2019

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

Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

por Ng, Joanne, Zhen, Juan, Meyer, Esther, Erreger, Kevin, Li, Yan, Kakar, Naseebullah, Ahmad, Jamil, Thiele, Holger, Kubisch, Christian, Rider, Nicholas L., Holmes Morton, D., Strauss, Kevin A., Puffenberger, Erik G., D’Agnano, Daniela, Anikster, Yair, Carducci, Claudia, Hyland, Keith, Rotstein, Michael, Leuzzi, Vincenzo, Borck, Guntram, Reith, Maarten E. A., Kurian, Manju A.
Publicado 2014

Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial

por Strauss, Kevin A., Farrar, Michelle A., Muntoni, Francesco, Saito, Kayoko, Mendell, Jerry R., Servais, Laurent, McMillan, Hugh J., Finkel, Richard S., Swoboda, Kathryn J., Kwon, Jennifer M., Zaidman, Craig M., Chiriboga, Claudia A., Iannaccone, Susan T., Krueger, Jena M., Parsons, Julie A., Shieh, Perry B., Kavanagh, Sarah, Tauscher-Wisniewski, Sitra, McGill, Bryan E., Macek, Thomas A.
Publicado 2022

Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial

por Strauss, Kevin A., Farrar, Michelle A., Muntoni, Francesco, Saito, Kayoko, Mendell, Jerry R., Servais, Laurent, McMillan, Hugh J., Finkel, Richard S., Swoboda, Kathryn J., Kwon, Jennifer M., Zaidman, Craig M., Chiriboga, Claudia A., Iannaccone, Susan T., Krueger, Jena M., Parsons, Julie A., Shieh, Perry B., Kavanagh, Sarah, Wigderson, Melissa, Tauscher-Wisniewski, Sitra, McGill, Bryan E., Macek, Thomas A.
Publicado 2022

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

por Puffenberger, Erik G., Jinks, Robert N., Sougnez, Carrie, Cibulskis, Kristian, Willert, Rebecca A., Achilly, Nathan P., Cassidy, Ryan P., Fiorentini, Christopher J., Heiken, Kory F., Lawrence, Johnny J., Mahoney, Molly H., Miller, Christopher J., Nair, Devika T., Politi, Kristin A., Worcester, Kimberly N., Setton, Roni A., DiPiazza, Rosa, Sherman, Eric A., Eastman, James T., Francklyn, Christopher, Robey-Bond, Susan, Rider, Nicholas L., Gabriel, Stacey, Morton, D. Holmes, Strauss, Kevin A.
Publicado 2012

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