检索结果 - McCormick, Elizabeth

Molecular Genetic Testing for Mitochondrial Disease: From One Generation to the Next 由 McCormick, Elizabeth, Place, Emily, Falk, Marni J.

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Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA 由 McCormick, Elizabeth M., Kenyon, Lawrence, Falk, Marni J.

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Mitochondrial Genomics: A complex field now coming of age 由 McCormick, Elizabeth M., Muraresku, Colleen C., Falk, Marni J.

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Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies 由 Muraresku, Colleen C., McCormick, Elizabeth M., Falk, Marni J.

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Mitochondrial Disease Genetics Update Recent insights into the Molecular Diagnosis and Expanding Phenotype of Primary Mitochondrial Disease 由 McCormick, Elizabeth M., Zolkipli-Cunningham, Zarazuela, Falk, Marni J.

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Evaluation of Enoxaparin Dosing and Monitoring in Pediatric Patients at Children's Teaching Hospital 由 McCormick, Elizabeth W., Parbuoni, Kristine A., Huynh, Donna, Morgan, Jill A.

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Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease 由 Shen, Lishuang, McCormick, Elizabeth M., Muraresk, Colleen C, Falk, Marni J., Gai, Xiaowu

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Risk factors for poor bone health in primary mitochondrial disease 由 Gandhi, Shifa S., Muraresku, Colleen, McCormick, Elizabeth M., Falk, Marni J., McCormack, Shana E.

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MT-ATP6 Mitochondrial Disease Variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases 由 Ganetzky, Rebecca D., Stendel, Claudia, McCormick, Elizabeth M., Zolkipli-Cunningham, Zarazuela, Goldstein, Amy C., Klopstock, Thomas, Falk, Marni J.

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Mitochondrial function requires NGLY1 由 Kong, Jianping, Peng, Min, Ostrovsky, Julian, Kwon, Young Joon, Oretsky, Olga, McCormick, Elizabeth M., He, Miao, Argon, Yair, Falk, Marni J.

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Rationale and design of a randomized controlled trial of home-based primary care versus usual care for high-risk homebound older adults 由 Reckrey, Jennifer M., Brody, Abraham A., McCormick, Elizabeth T., DeCherrie, Linda V., Zhu, Carolyn, Ritchie, Christine S., Siu, Albert L., Egorova, Natali, Federman, Alex D.

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Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function 由 Li, Dong, Bhoj, Elizabeth, McCormick, Elizabeth, Wang, Fengxiang, Snyder, James, Wang, Tiancheng, Zhao, Yan, Kim, Cecilia, Chiavacci, Rosetta, Tian, Lifeng, Falk, Marni J., Hakonarson, Hakon

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Mitochondrial disease patient motivations and barriers to participate in clinical trials 由 Zolkipli-Cunningham, Zarazuela, Xiao, Rui, Stoddart, Amy, McCormick, Elizabeth M., Holberts, Amy, Burrill, Natalie, McCormack, Shana, Williams, Lauren, Wang, Xiaoyan, Thompson, John L. P., Falk, Marni J.

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A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression 由 Falk, Marni J., Gai, Xiaowu, Shigematsu, Megumi, Vilardo, Elisa, Takase, Ryuichi, McCormick, Elizabeth, Christian, Thomas, Place, Emily, Pierce, Eric A., Consugar, Mark, Gamper, Howard B., Rossmanith, Walter, Hou, Ya-Ming

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Primary Respiratory Chain Disease Causes Tissue-Specific Dysregulation of the Global Transcriptome and Nutrient-Sensing Signaling Network 由 Zhang, Zhe, Tsukikawa, Mai, Peng, Min, Polyak, Erzsebet, Nakamaru-Ogiso, Eiko, Ostrovsky, Julian, McCormack, Shana, Place, Emily, Clarke, Colleen, Reiner, Gail, McCormick, Elizabeth, Rappaport, Eric, Haas, Richard, Baur, Joseph A., Falk, Marni J.

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Understanding the phenotypic spectrum of ASXL-related disease: 10 cases and a review of the literature 由 Cuddapah, Vishnu Anand, Dubbs, Holly A., Adang, Laura, Kugler, Steven L., McCormick, Elizabeth M., Zolkipli-Cunningham, Zarazuela, Ortiz-González, Xilma R., McCormack, Shana, Zackai, Elaine, Licht, Daniel J., Falk, Marni J., Marsh, Eric D.

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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... 由 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.

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Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. 由 McCormick, Elizabeth M., Lott, Marie T., Dulik, Matthew C., Shen, Lishuang, Attimonelli, Marcella, Vitale, Ornella, Karaa, Amel, Bai, Renkui, Pineda-Alvarez, Daniel E., Singh, Larry N., Stanley, Christine M., Wong, Stacey, Bhardwaj, Anshu, Merkurjev, Daria, Mao, Rong, Sondheimer, Neal, Zhang, Shiping, Procaccio, Vincent, Wallace, Douglas C., Gai, Xiaowu, Falk, Marni J.

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Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease 由 Wang, Jing, Balciuniene, Jorune, Diaz-Miranda, Maria Alejandra, McCormick, Elizabeth M., Eshghi, Erfan Aref, Muir, Alison M., Cao, Kajia, Troiani, Juliana, Moseley, Alicia, Fan, Zhiqian, Zolkipli-Cunningham, Zarazuela, Goldstein, Amy, Ganetzky, Rebecca D., Muraresku, Colleen C., Peterson, James T, Spinner, Nancy B., Wallace, Douglas C., Dulik, Matthew C., Falk, Marni J.

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AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate 由 Falk, Marni J., Li, Dong, Gai, Xiaowu, McCormick, Elizabeth, Place, Emily, Lasorsa, Francesco M., Otieno, Frederick G., Hou, Cuiping, Kim, Cecilia E., Abdel-Magid, Nada, Vazquez, Lyam, Mentch, Frank D., Chiavacci, Rosetta, Liang, Jinlong, Liu, Xuanzhu, Jiang, Hui, Giannuzzi, Giulia, Marsh, Eric D., Yiran, Guo, Tian, Lifeng, Palmieri, Ferdinando, Hakonarson, Hakon

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