Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics
Kishnani, Priya S., Austin, Stephanie L., Abdenur, Jose E., Arn, Pamela, Bali, Deeksha S., Boney, Anne, Chung, Wendy K., Dagli, Aditi I., Dale, David, Koeberl, Dwight, Somers, Michael J., Burns Wechsler, Stephanie, Weinstein, David A., Wolfsdorf, Joseph I., Watson, Michael S.
Published in Genetics in medicine (01.11.2014)
Published in Genetics in medicine (01.11.2014)
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Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion
Stiles, Ashlee R., Simon, Mariella T., Stover, Alexander, Eftekharian, Shaya, Khanlou, Negar, Wang, Hanlin L., Magaki, Shino, Lee, Hane, Partynski, Kate, Dorrani, Nagmeh, Chang, Richard, Martinez-Agosto, Julian A., Abdenur, Jose E.
Published in Molecular genetics and metabolism (01.09.2016)
Published in Molecular genetics and metabolism (01.09.2016)
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Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes
Simon, Mariella T., Eftekharian, Shaya S., Stover, Alexander E., Osborne, Aaron F., Braffman, Bruce H., Chang, Richard C., Wang, Raymond Y., Steenari, Maija R., Tang, Sha, Hwu, Paul Wuh-Liang, Taft, Ryan J., Benke, Paul J., Abdenur, Jose E.
Published in Molecular genetics and metabolism (01.01.2019)
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A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System
Staropoli, John F., Karaa, Amel, Lim, Elaine T., Kirby, Andrew, Elbalalesy, Naser, Romansky, Stephen G., Leydiker, Karen B., Coppel, Scott H., Barone, Rosemary, Xin, Winnie, MacDonald, Marcy E., Abdenur, Jose E., Daly, Mark J., Sims, Katherine B., Cotman, Susan L.
Published in American journal of human genetics (13.07.2012)
Published in American journal of human genetics (13.07.2012)
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Initial experience in the treatment of inherited mitochondrial disease with EPI-743
Enns, Gregory M., Kinsman, Stephen L., Perlman, Susan L., Spicer, Kenneth M., Abdenur, Jose E., Cohen, Bruce H., Amagata, Akiko, Barnes, Adam, Kheifets, Viktoria, Shrader, William D., Thoolen, Martin, Blankenberg, Francis, Miller, Guy
Published in Molecular genetics and metabolism (01.01.2012)
Published in Molecular genetics and metabolism (01.01.2012)
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Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
Carss, Keren J., Stevens, Elizabeth, Foley, A. Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A., Messina, Sonia, Bertini, Enrico, Bönnemann, Carsten G., Abdenur, Jose E., Grosmann, Carla M., Kesari, Akanchha, Punetha, Jaya, Quinlivan, Ros, Waddell, Leigh B., Young, Helen K., Wraige, Elizabeth, Yau, Shu, Brodd, Lina, Feng, Lucy, Sewry, Caroline, MacArthur, Daniel G., North, Kathryn N., Hoffman, Eric, Stemple, Derek L., Hurles, Matthew E., van Bokhoven, Hans, Campbell, Kevin P., Lefeber, Dirk J., Lin, Yung-Yao, Muntoni, Francesco
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy
Coughlin, Curtis R, Tseng, Laura A, Bok, Levinus A, Hartmann, Hans, Footitt, Emma, Striano, Pasquale, Tabarki, Brahim M, Lunsing, Roelineke J, Stockler-Ipsiroglu, Sylvia, Gordon, Shanlea, Van Hove, Johan L K, Abdenur, Jose E, Boyer, Monica, Longo, Nicola, Andrews, Ashley, Janssen, Mirian C H, van Wegberg, Annemiek, Prasad, Chitra, Prasad, Asuri N, Lamb, Molly M, Wijburg, Frits A, Gospe, Jr, Sidney M, van Karnebeek, Clara
Published in Neurology (06.12.2022)
Published in Neurology (06.12.2022)
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ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder
Simon, Mariella T., Eftekharian, Shaya S., Ferdinandusse, Sacha, Tang, Sha, Naseri, Take, Reupena, Muagututi'a Sefuiva, McGarvey, Stephen T., Minster, Ryan L., Weeks, Daniel E., Nguyen, Daniel D., Lee, Sansan, Ellsworth, Katarzyna A., Vaz, Frédéric M., Dimmock, David, Pitt, James, Abdenur, Jose E.
Published in American journal of medical genetics. Part A (01.01.2021)
Published in American journal of medical genetics. Part A (01.01.2021)
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Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients
Chapel-Crespo, Cristel, Gavrilov, Dimitar, Sowa, Mary, Myers, Jessica, Day-Salvatore, Debra-Lynn, Lynn, Haley, Regier, Debra, Starin, Danielle, Steenari, Maija, Schoonderwoerd, Kees, Abdenur, Jose E.
Published in Molecular genetics and metabolism (01.09.2019)
Published in Molecular genetics and metabolism (01.09.2019)
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Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome
Simon, Mariella, Richard, Elodie M, Wang, Xinjian, Shahzad, Mohsin, Huang, Vincent H, Qaiser, Tanveer A, Potluri, Prasanth, Mahl, Sarah E, Davila, Antonio, Nazli, Sabiha, Hancock, Saege, Yu, Margret, Gargus, Jay, Chang, Richard, Al-Sheqaih, Nada, Newman, William G, Abdenur, Jose, Starr, Arnold, Hegde, Rashmi, Dorn, Thomas, Busch, Anke, Park, Eddie, Wu, Jie, Schwenzer, Hagen, Flierl, Adrian, Florentz, Catherine, Sissler, Marie, Khan, Shaheen N, Li, Ronghua, Guan, Min-Xin, Friedman, Thomas B, Wu, Doris K, Procaccio, Vincent, Riazuddin, Sheikh, Wallace, Douglas C, Ahmed, Zubair M, Huang, Taosheng, Riazuddin, Saima
Published in PLoS genetics (01.03.2015)
Published in PLoS genetics (01.03.2015)
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Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions
Mares Beltran, Carlos F, Tise, Christina G, Barrick, Rebekah, Niehaus, Annie D, Sponberg, Rebecca, Chang, Richard, Enns, Gregory M, Abdenur, Jose E
Published in Genes (01.07.2024)
Published in Genes (01.07.2024)
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Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy
Tseng, Laura A., Abdenur, Jose E., Andrews, Ashley, Aziz, Verena G., Bok, Levinus A., Boyer, Monica, Buhas, Daniela, Hartmann, Hans, Footitt, Emma J., Grønborg, Sabine, Janssen, Mirian C.H., Longo, Nicola, Lunsing, Roelineke J., MacKenzie, Alex E., Wijburg, Frits A., Gospe, Sidney M., Coughlin, Curtis R., van Karnebeek, Clara D.M.
Published in Molecular genetics and metabolism (01.04.2022)
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Reduction in newborn screening metabolic false-positive results following a new collection protocol
Morris, Mindy, Fischer, Kristin, Leydiker, Karen, Elliott, Lisa, Newby, Joan, Abdenur, Jose E.
Published in Genetics in medicine (01.06.2014)
Published in Genetics in medicine (01.06.2014)
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Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation
Miyake, Noriko, Yano, Shoji, Sakai, Chika, Hatakeyama, Hideyuki, Matsushima, Yuichi, Shiina, Masaaki, Watanabe, Yoriko, Bartley, James, Abdenur, Jose E., Wang, Raymond Y., Chang, Richard, Tsurusaki, Yoshinori, Doi, Hiroshi, Nakashima, Mitsuko, Saitsu, Hirotomo, Ogata, Kazuhiro, Goto, Yu-ichi, Matsumoto, Naomichi
Published in Human mutation (01.03.2013)
Published in Human mutation (01.03.2013)
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Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
Wong, Lee-Jun C, Naviaux, Robert K, Brunetti-Pierri, Nicola, Zhang, Qing, Schmitt, Eric S, Truong, Cavatina, Milone, Margherita, Cohen, Bruce H, Wical, Beverly, Ganesh, Jaya, Basinger, Alice A, Burton, Barbara K, Swoboda, Kathryn, Gilbert, Donald L, Vanderver, Adeline, Saneto, Russell P, Maranda, Bruno, Arnold, Georgianne, Abdenur, Jose E, Waters, Paula J, Copeland, William C
Published in Human mutation (01.09.2008)
Published in Human mutation (01.09.2008)
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Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease
Stiles, Ashlee R., Ferdinandusse, Sacha, Besse, Arnaud, Appadurai, Vivek, Leydiker, Karen B., Cambray-Forker, E.J., Bonnen, Penelope E., Abdenur, Jose E.
Published in Molecular genetics and metabolism (01.08.2015)
Published in Molecular genetics and metabolism (01.08.2015)
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Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation
Huang, Wei-Lin, Steenari, Maija R., Barrick, Rebekah, Simon, Mariella T., Chang, Richard, Eftekharian, Shaya S., Stover, Alexander, Schwartz, Philip H., Latini, Alexandra, Abdenur, Jose E.
Published in Molecular genetics and metabolism reports (01.03.2024)
Published in Molecular genetics and metabolism reports (01.03.2024)
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Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening
Merritt, J. Lawrence, Vedal, Sverre, Abdenur, Jose E., Au, Sylvia M., Barshop, Bruce A., Feuchtbaum, Lisa, Harding, Cary O., Hermerath, Cheryl, Lorey, Fred, Sesser, David E., Thompson, John D., Yu, Arthur
Published in Molecular genetics and metabolism (01.04.2014)
Published in Molecular genetics and metabolism (01.04.2014)
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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
Ng, Bobby G., Shiryaev, Sergey A., Rymen, Daisy, Eklund, Erik A., Raymond, Kimiyo, Kircher, Martin, Abdenur, Jose E., Alehan, Fusun, Midro, Alina T., Bamshad, Michael J., Barone, Rita, Berry, Gerard T., Brumbaugh, Jane E., Buckingham, Kati J., Clarkson, Katie, Cole, F. Sessions, O'Connor, Shawn, Cooper, Gregory M., Van Coster, Rudy, Demmer, Laurie A., Diogo, Luisa, Fay, Alexander J., Ficicioglu, Can, Fiumara, Agata, Gahl, William A., Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A., He, Miao, Jaeken, Jaak, James, Philip M., Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J., Lachlan, Katherine, Lam, Christina, Yaplito-Lee, Joy, Nickerson, Deborah A., Peters, Heidi L., Race, Valerie, Régal, Luc, Rush, Jeffrey S., Rutledge, S. Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E., Trapane, Pamela, Sanchez-Valle, Amarilis, Vilain, Eric, Vøllo, Arve, Waechter, Charles J., Wang, Raymond Y., Wolfe, Lynne A., Wong, Derek A., Wood, Tim, Yang, Amy C., Matthijs, Gert, Freeze, Hudson H.
Published in Human mutation (01.07.2016)
Published in Human mutation (01.07.2016)
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