Mitochondrial Disease in Childhood: Nuclear Encoded

por Goldstein, Amy C., Bhatia, Poonam, Vento, Jodie M.
Publicado 2013

Broadening the phenotypic spectrum of Pearson Syndrome: Five new cases and a review of the literature

por Wild, K. Taylor, Goldstein, Amy C., Muraresku, Colleen, Ganetzky, Rebecca D.
Publicado en Am J Med Genet A (2019)

ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics

por Prabhu, Dolly, Goldstein, Amy C., El-Khoury, Riyad, Rak, Malgorzata, Edmunds, Lia, Rustin, Pierre, Vockley, Jerry, Schiff, Manuel
Publicado en Mol Genet Metab Rep (2015)

MT-ATP6 Mitochondrial Disease Variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases

por Ganetzky, Rebecca D., Stendel, Claudia, McCormick, Elizabeth M., Zolkipli-Cunningham, Zarazuela, Goldstein, Amy C., Klopstock, Thomas, Falk, Marni J.
Publicado en Hum Mutat (2019)

Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures

por Belachew, Dina, Kazmerski, Traci, Libman, Ingrid, Goldstein, Amy C., Stevens, Susan T., DeWard, Stephanie, Vockley, Jerry, Sperling, Mark A., Balest, Arcangela L.
Publicado 2013

Characterization of the renal phenotype in RMND1‐related mitochondrial disease

por Shayota, Brian J., Le, Nhon T., Bekheirnia, Nasim, Rosenfeld, Jill A., Goldstein, Amy C., Moritz, Michael, Bartholomew, Dennis W., Pastore, Matthew T., Xia, Fan, Eng, Christine, Yang, Yaping, Lamb, Dolores J., Scaglia, Fernando, Braun, Michael C., Bekheirnia, Mir Reza
Publicado en Mol Genet Genomic Med (2019)

Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-S...

por Gustafson, Margaret A., McCormick, Elizabeth M., Perera, Lalith, Longley, Matthew J., Bai, Renkui, Kong, Jianping, Dulik, Matthew, Shen, Lishuang, Goldstein, Amy C., McCormack, Shana E., Laskin, Benjamin L., Leroy, Bart P., Ortiz-Gonzalez, Xilma R., Ellington, Meredith G., Copeland, William C., Falk, Marni J.
Publicado en PLoS One (2019)

Nutritional Interventions in Primary Mitochondrial Disorders: Developing an Evidence Base()

por Camp, Kathryn M., Krotoski, Danuta, Parisi, Melissa A., Gwinn, Katrina A., Cohen, Bruce H., Cox, Christine S., Enns, Gregory M., Falk, Marni J., Goldstein, Amy C., Gopal-Srivastava, Rashmi, Gorman, Gráinne S., Hersh, Stephen P., Hirano, Michio, Hoffman, Freddie Ann, Karaa, Amel, MacLeod, Erin L., McFarland, Robert, Mohan, Charles, Mulberg, Andrew E., Odenkirchen, Joanne C., Parikh, Sumit, Rutherford, Patricia J., Suggs-Anderson, Shawne K., Tang, W.H. Wilson, Vockley, Jerry, Wolfe, Lynne A., Yannicelli, Steven, Yeske, Philip E., Coates, Paul M.
Publicado en Mol Genet Metab (2016)

Mitochondrial diseases in North America: An analysis of the NAMDC Registry

por Barca, Emanuele, Long, Yuelin, Cooley, Victoria, Schoenaker, Robert, Emmanuele, Valentina, DiMauro, Salvatore, Cohen, Bruce H., Karaa, Amel, Vladutiu, Georgirene D., Haas, Richard, Van Hove, Johan L.K., Scaglia, Fernando, Parikh, Sumit, Bedoyan, Jirair K., DeBrosse, Susanne D., Gavrilova, Ralitza H., Saneto, Russell P., Enns, Gregory M., Stacpoole, Peter W., Ganesh, Jaya, Larson, Austin, Zolkipli-Cunningham, Zarazuela, Falk, Marni J., Goldstein, Amy C., Tarnopolsky, Mark, Gropman, Andrea, Camp, Kathryn, Krotoski, Danuta, Engelstad, Kristin, Rosales, Xiomara Q., Kriger, Joshua, Grier, Johnston, Buchsbaum, Richard, Thompson, John L.P., Hirano, Michio
Publicado en Neurol Genet (2020)