Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M, Saneto, Russell, Anselm, Irina, Cohen, Bruce H, Falk, Marni J, Greene, Carol, Gropman, Andrea L, Haas, Richard, Hirano, Michio, Morgan, Phil, Sims, Katherine, Tarnopolsky, Mark, Van Hove, Johan L K, Wolfe, Lynne, DiMauro, Salvatore
Published in Genetics in medicine (01.09.2015)
Published in Genetics in medicine (01.09.2015)
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Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Parikh, Sumit, Goldstein, Amy, Karaa, Amel, Koenig, Mary Kay, Anselm, Irina, Brunel-Guitton, Catherine, Christodoulou, John, Cohen, Bruce H, Dimmock, David, Enns, Gregory M, Falk, Marni J, Feigenbaum, Annette, Frye, Richard E, Ganesh, Jaya, Griesemer, David, Haas, Richard, Horvath, Rita, Korson, Mark, Kruer, Michael C, Mancuso, Michelangelo, McCormack, Shana, Raboisson, Marie Josee, Reimschisel, Tyler, Salvarinova, Ramona, Saneto, Russell P, Scaglia, Fernando, Shoffner, John, Stacpoole, Peter W, Sue, Carolyn M, Tarnopolsky, Mark, Van Karnebeek, Clara, Wolfe, Lynne A, Cunningham, Zarazuela Zolkipli, Rahman, Shamima, Chinnery, Patrick F
Published in Genetics in medicine (01.12.2017)
Published in Genetics in medicine (01.12.2017)
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Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis
Gomez-Ospina, Natalia, Potter, Carol J, Xiao, Rui, Manickam, Kandamurugu, Kim, Mi-Sun, Kim, Kang Ho, Shneider, Benjamin L, Picarsic, Jennifer L, Jacobson, Theodora A, Zhang, Jing, He, Weimin, Liu, Pengfei, Knisely, A S, Finegold, Milton J, Muzny, Donna M, Boerwinkle, Eric, Lupski, James R, Plon, Sharon E, Gibbs, Richard A, Eng, Christine M, Yang, Yaping, Washington, Gabriel C, Porteus, Matthew H, Berquist, William E, Kambham, Neeraja, Singh, Ravinder J, Xia, Fan, Enns, Gregory M, Moore, David D
Published in Nature communications (18.02.2016)
Published in Nature communications (18.02.2016)
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Subsyndromal depression in the United States: prevalence, course, and risk for incident psychiatric outcomes
Pietrzak, R. H., Kinley, J., Afifi, T. O., Enns, M. W., Fawcett, J., Sareen, J.
Published in Psychological medicine (01.07.2013)
Published in Psychological medicine (01.07.2013)
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Journal Article
Treatment of Methylmalonic Acidemia by Liver or Combined Liver-Kidney Transplantation
Niemi, Anna-Kaisa, MD, PhD, Kim, Irene K., MD, Krueger, Casey E., PhD, Cowan, Tina M., PhD, Baugh, Nancy, MS, RD, Farrell, Rachel, MS, Bonham, Clark A., MD, Concepcion, Waldo, MD, Esquivel, Carlos O., MD, PhD, Enns, Gregory M., MB, ChB
Published in The Journal of pediatrics (01.06.2015)
Published in The Journal of pediatrics (01.06.2015)
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Journal Article
A new LC–MS/MS method for the clinical determination of reduced and oxidized glutathione from whole blood
Moore, Tereza, Le, Anthony, Niemi, Anna-Kaisa, Kwan, Tony, Cusmano-Ozog, Krinstina, Enns, Gregory M., Cowan, Tina M.
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (15.06.2013)
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (15.06.2013)
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Journal Article
Clinical Features of Lysosomal Acid Lipase Deficiency
Burton, Barbara K., Deegan, Patrick B., Enns, Gregory M., Guardamagna, Ornella, Horslen, Simon, Hovingh, Gerard K., Lobritto, Steve J., Malinova, Vera, McLin, Valerie A., Raiman, Julian, Di Rocco, Maja, Santra, Saikat, Sharma, Reena, Sykut‐Cegielska, Jolanta, Whitley, Chester B., Eckert, Stephen, Valayannopoulos, Vassili, Quinn, Anthony G.
Published in Journal of pediatric gastroenterology and nutrition (01.12.2015)
Published in Journal of pediatric gastroenterology and nutrition (01.12.2015)
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Journal Article
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway
Enns, Gregory M, Shashi, Vandana, Bainbridge, Matthew, Gambello, Michael J, Zahir, Farah R, Bast, Thomas, Crimian, Rebecca, Schoch, Kelly, Platt, Julia, Cox, Rachel, Bernstein, Jonathan A, Scavina, Mena, Walter, Rhonda S, Bibb, Audrey, Jones, Melanie, Hegde, Madhuri, Graham, Brett H, Need, Anna C, Oviedo, Angelica, Schaaf, Christian P, Boyle, Sean, Butte, Atul J, Chen, Rui, Chen, Rong, Clark, Michael J, Haraksingh, Rajini, Cowan, Tina M, He, Ping, Langlois, Sylvie, Zoghbi, Huda Y, Snyder, Michael, Gibbs, Richard A, Freeze, Hudson H, Goldstein, David B
Published in Genetics in medicine (01.10.2014)
Published in Genetics in medicine (01.10.2014)
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De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms
Weiss, Karin, Terhal, Paulien A., Cohen, Lior, Bruccoleri, Michael, Irving, Melita, Martinez, Ariel F., Rosenfeld, Jill A., Machol, Keren, Yang, Yaping, Liu, Pengfei, Walkiewicz, Magdalena, Beuten, Joke, Gomez-Ospina, Natalia, Haude, Katrina, Fong, Chin-To, Enns, Gregory M., Bernstein, Jonathan A., Fan, Judith, Gotway, Garrett, Ghorbani, Mohammad, van Gassen, Koen, Monroe, Glen R., van Haaften, Gijs, Basel-Vanagaite, Lina, Yang, Xiang-Jiao, Campeau, Philippe M., Muenke, Maximilian
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Journal Article
AMP-independent activator of AMPK for treatment of mitochondrial disorders
Moore, Tereza, Yanes, Rolando E, Calton, Melissa A, Vollrath, Douglas, Enns, Gregory M, Cowan, Tina M
Published in PloS one (14.10.2020)
Published in PloS one (14.10.2020)
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Journal Article
Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy
Kahn-Kirby, Amanda H, Amagata, Akiko, Maeder, Celine I, Mei, Janet J, Sideris, Steve, Kosaka, Yuko, Hinman, Andrew, Malone, Stephanie A, Bruegger, Joel J, Wang, Leslie, Kim, Virna, Shrader, William D, Hoff, Kevin G, Latham, Joey C, Ashley, Euan A, Wheeler, Matthew T, Bertini, Enrico, Carrozzo, Rosalba, Martinelli, Diego, Dionisi-Vici, Carlo, Chapman, Kimberly A, Enns, Gregory M, Gahl, William, Wolfe, Lynne, Saneto, Russell P, Johnson, Simon C, Trimmer, Jeffrey K, Klein, Matthew B, Holst, Charles R
Published in PloS one (28.03.2019)
Published in PloS one (28.03.2019)
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Journal Article
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures
Petrovski, Slavé, Küry, Sébastien, Myers, Candace T., Anyane-Yeboa, Kwame, Cogné, Benjamin, Bialer, Martin, Xia, Fan, Hemati, Parisa, Riviello, James, Mehaffey, Michele, Besnard, Thomas, Becraft, Emily, Wadley, Alexandrea, Politi, Anya Revah, Colombo, Sophie, Zhu, Xiaolin, Ren, Zhong, Andrews, Ian, Dudding-Byth, Tracy, Schneider, Amy L., Wallace, Geoffrey, Rosen, Aaron B.I., Schelley, Susan, Enns, Gregory M., Corre, Pierre, Dalton, Joline, Mercier, Sandra, Latypova, Xénia, Schmitt, Sébastien, Guzman, Edwin, Moore, Christine, Bier, Louise, Heinzen, Erin L., Karachunski, Peter, Shur, Natasha, Grebe, Theresa, Basinger, Alice, Nguyen, Joanne M., Bézieau, Stéphane, Wierenga, Klaas, Bernstein, Jonathan A., Scheffer, Ingrid E., Rosenfeld, Jill A., Mefford, Heather C., Isidor, Bertrand, Goldstein, David B.
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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Journal Article
Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan
Stevens, Elizabeth, Carss, Keren J., Cirak, Sebahattin, Foley, A. Reghan, Torelli, Silvia, Willer, Tobias, Tambunan, Dimira E., Yau, Shu, Brodd, Lina, Sewry, Caroline A., Feng, Lucy, Haliloglu, Goknur, Orhan, Diclehan, Dobyns, William B., Enns, Gregory M., Manning, Melanie, Krause, Amanda, Salih, Mustafa A., Walsh, Christopher A., Hurles, Matthew, Campbell, Kevin P., Manzini, M. Chiara, Stemple, Derek, Lin, Yung-Yao, Muntoni, Francesco
Published in American journal of human genetics (07.03.2013)
Published in American journal of human genetics (07.03.2013)
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Journal Article
Reducing False-Positive Results in Newborn Screening Using Machine Learning
Peng, Gang, Tang, Yishuo, Cowan, Tina M, Enns, Gregory M, Zhao, Hongyu, Scharfe, Curt
Published in International journal of neonatal screening (01.03.2020)
Published in International journal of neonatal screening (01.03.2020)
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Journal Article
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia
Manoli, Irini, Sysol, Justin R., Li, Lingli, Houillier, Pascal, Garone, Caterina, Wang, Cindy, Zerfas, Patricia M., Cusmano-Ozog, Kristina, Young, Sarah, Trivedi, Niraj S., Cheng, Jun, Sloan, Jennifer L., Chandler, Randy J., Abu-Asab, Mones, Tsokos, Maria, Elkahloun, Abdel G., Rosen, Seymour, Enns, Gregory M., Berry, Gerard T., Hoffmann, Victoria, DiMauro, Salvatore, Schnermann, Jurgen, Venditti, Charles P.
Published in Proceedings of the National Academy of Sciences - PNAS (13.08.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (13.08.2013)
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Journal Article
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants
Jones, Simon A., Valayannopoulos, Vassili, Schneider, Eugene, Eckert, Stephen, Banikazemi, Maryam, Bialer, Martin, Cederbaum, Stephen, Chan, Alicia, Dhawan, Anil, Di Rocco, Maja, Domm, Jennifer, Enns, Gregory M., Finegold, David, Gargus, J. Jay, Guardamagna, Ornella, Hendriksz, Christian, Mahmoud, Iman G., Raiman, Julian, Selim, Laila A., Whitley, Chester B., Zaki, Osama, Quinn, Anthony G.
Published in Genetics in medicine (01.05.2016)
Published in Genetics in medicine (01.05.2016)
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Journal Article
Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders
Cui, Hong, Li, Fangyuan, Chen, David, Wang, Guoli, Truong, Cavatina K, Enns, Gregory M, Graham, Brett, Milone, Margherita, Landsverk, Megan L, Wang, Jing, Zhang, Wei, Wong, Lee-Jun C
Published in Genetics in medicine (01.05.2013)
Published in Genetics in medicine (01.05.2013)
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