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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Journal Article
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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Journal Article
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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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
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
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
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 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
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, 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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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
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
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
Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder
Ananth, Amitha L., MD, Robichaux-Viehoever, Amy, MD, PhD, Kim, Young-Min, MD, Hanson-Kahn, Andrea, MS, CGC, Cox, Rachel, MS, CGC, Enns, Gregory M., MB, ChB, Strober, Jonathan, MD, Willing, Marcia, MD, Schlaggar, Bradley L., MD, PhD, Wu, Yvonne W., MD, MPH, Bernstein, Jonathan A., MD, PhD
Published in Pediatric neurology (01.06.2016)
Published in Pediatric neurology (01.06.2016)
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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
Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature
Sylvester, Karl G., MD, Kastenberg, Zachary J., MD, MS, Moss, R. Larry, MD, Enns, Gregory M., MB, ChB, Cowan, Tina M., PhD, Shaw, Gary M., DrPH, Stevenson, David K., MD, Sinclair, Tiffany J., MD, Scharfe, Curt, PhD, Ryckman, Kelli K., PhD, Jelliffe-Pawlowski, Laura L., PhD
Published in The Journal of pediatrics (01.02.2017)
Published in The Journal of pediatrics (01.02.2017)
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Journal Article
Degree of glutathione deficiency and redox imbalance depend on subtype of mitochondrial disease and clinical status
Enns, Gregory M, Moore, Tereza, Le, Anthony, Atkuri, Kondala, Shah, Monisha K, Cusmano-Ozog, Kristina, Niemi, Anna-Kaisa, Cowan, Tina M
Published in PloS one (18.06.2014)
Published in PloS one (18.06.2014)
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Journal Article
Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome
Campeau, Philippe M., Kim, Jaeseung C., Lu, James T., Schwartzentruber, Jeremy A., Abdul-Rahman, Omar A., Schlaubitz, Silke, Murdock, David M., Jiang, Ming-Ming, Lammer, Edward J., Enns, Gregory M., Rhead, William J., Rowland, Jon, Robertson, Stephen P., Cormier-Daire, Valérie, Bainbridge, Matthew N., Yang, Xiang-Jiao, Gingras, Marie-Claude, Gibbs, Richard A., Rosenblatt, David S., Majewski, Jacek, Lee, Brendan H.
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Journal Article
Identification of HIBCH Gene Mutations Causing Autosomal Recessive Leigh Syndrome: A Gene Involved in Valine Metabolism
Soler-Alfonso, Claudia, MD, Enns, Gregory M., MB, ChB, Koenig, Mary Kay, MD, Saavedra, Heather, RD, LD, Bonfante-Mejia, Eliana, MD, Northrup, Hope, MD
Published in Pediatric neurology (01.03.2015)
Published in Pediatric neurology (01.03.2015)
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