Recognizing the evolution of clinical syndrome spectrum progression in individuals with single large-scale mitochondrial DNA deletion syndromes (SLSMDS)

Authors: Ganetzky, Rebecca ^{1, 2, ∗}, Stanley, Katelynn D. ¹, MacMullen, Laura E. ¹, George-Sankoh, Ibrahim ¹, Wang, Jing ^{3, 4}, Goldstein, Amy ^{1, 2}, Xiao, Rui ⁵, Falk, Marni J. ^{1, 2, ∗}

Source: In Genetics in Medicine February 2025

Bridging the clinical-research gap: Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicine

Authors: MacMullen, Laura E., George-Sankoh, Ibrahim, Stanley, Katelynn, McCormick, Elizabeth M., Muraresku, Colleen C., Goldstein, Amy, Zolkipli-Cunningham, Zarazuela, Falk, Marni J.

Source: In Molecular Genetics and Metabolism May 2024 142(1)

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

Authors: McCormick, Elizabeth M., Keller, Kierstin, Taylor, Julie P., Coffey, Alison J., Shen, Lishuang, Krotoski, Danuta, Harding, Brian, Alves, César Augusto Pinheiro Ferreira, Ardissone, Anna, Bai, Renkui, Barcelos, Isabella Peixoto, Bertini, Enrico, Bluske, Krista, Christodoulou, John, Clause, Amanda R., Copeland, William C., Diaz, George A., Diodato, Daria, Dulik, Matthew C., Enns, Greg, Feigenbaum, Annette, Fratter, Carl, Ghezzi, Daniele, Goldstein, Amy, Gropman, Andrea, Haas, Richard, Karaa, Amel, Koenig, Mary Kay, Monteleone, Berrin, Parikh, Sumit, Duenas, Belen Perez, Rajkumar, Revathi, Saada, Ann, Saneto, Russell P., Sergeant, Kate, Shoffner, John, Smith, Conrad, Stanley, Christine, Thiffault, Isabelle, Thorburn, David, Walker, Melissa, Wallace, Douglas, Wong, Lee‐Jun, Gai, Xiaowu, Falk, Marni J., Zolkipli‐Cunningham, Zarazuela, Rahman, Shamima

Source: Annals of neurology. 94(4):696-712

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194529494.0x000001&indx=1&recIds=ETOCvdc_100194529494.0x000001

Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy

Authors: Karaa, Amel, Bertini, Enrico, Carelli, Valerio, Cohen, Bruce H., Enns, Gregory M., Falk, Marni J., Goldstein, Amy, Gorman, Gráinne Siobhan, Haas, Richard, Hirano, Michio, Klopstock, Thomas, Koenig, Mary Kay, Kornblum, Cornelia, Lamperti, Costanza, Lehman, Anna, Longo, Nicola, Molnar, Maria Judit, Parikh, Sumit, Phan, Han, Pitceathly, Robert D.S., Saneto, Russell, Scaglia, Fernando, Servidei, Serenella, Tarnopolsky, Mark, Toscano, Antonio, Van Hove, Johan L.K., Vissing, John, Vockley, Jerry, Finman, Jeffrey S., Brown, David A., Shiffer, James A., Mancuso, Michelango

Source: Neurology. 101(3):e238-e252

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100192337836.0x000001&indx=1&recIds=ETOCvdc_100192337836.0x000001

Optimized Nutrition in Mitochondrial Disease Correlates to Improved Muscle Fatigue, Strength, and Quality of Life

Authors: DiVito, Donna, Wellik, Amanda, Burfield, Jessica, Peterson, James, Flickinger, Jean, Tindall, Alyssa, Albanowski, Kimberly, Vishnubhatt, Shailee, MacMullen, Laura, Martin, Isaac, Muraresku, Colleen, McCormick, Elizabeth, George-Sankoh, Ibrahim, McCormack, Shana, Goldstein, Amy, Ganetzky, Rebecca, Yudkoff, Marc, Xiao, Rui, Falk, Marni J., Mascarenhas, Maria R., Zolkipli-Cunningham, Zarazuela

Source: In Neurotherapeutics October 2023 20(6):1723-1745

Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease

Authors: Elander, Johanna, McCormick, Elizabeth M., Värendh, Maria, Stenfeldt, Karin, Ganetzky, Rebecca D., Goldstein, Amy, Zolkipli-Cunningham, Zarazuela, MacMullen, Laura E., Xiao, Rui, Falk, Marni J., Ehinger, Johannes K.

Source: In Molecular Genetics and Metabolism November 2022 137(3):230-238

Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis

Authors: Tinker, Rory J., Falk, Marni J., Goldstein, Amy, George-Sankoh, Ibrahim, Xiao, Rui, Adang, Laura, Ganetzky, Rebecca

Source: Molecular genetics and metabolism. 135(4):342-349

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100196120002.0x000001&indx=1&recIds=ETOCvdc_100196120002.0x000001

Qualitative exploration of the lived experience of adults diagnosed with primary mitochondrial disease

Authors: Valverde, Kathleen D., McCormick, Elizabeth M., Falk, Marni J.

Source: JIMD reports. 63(5):494-507

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100173008695.0x000001&indx=1&recIds=ETOCvdc_100173008695.0x000001

Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease

Authors: Wang, Jing, Balciuniene, Jorune, Diaz-Miranda, Maria Alejandra, McCormick, Elizabeth M., Aref-Eshghi, Erfan, 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.

Source: Molecular genetics and metabolism. 135(1):93-101

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100153333500.0x000001&indx=1&recIds=ETOCvdc_100153333500.0x000001

Small-molecule hypoxia therapy in mitochondrial disease.

Authors: Falk, Marni J.¹ (AUTHOR) falkm@chop.edu

Source: Cell. Mar2025, Vol. 188 Issue 6, p1462-1465. 4p.

Subject Terms: *ERYTHROCYTES, *OXYHEMOGLOBIN, *THERAPEUTICS, *LABORATORY mice, *ANIMAL disease models

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans

Authors: Qi, Cai, Feng, Irena, Costa, Ana Rita, Pinto-Costa, Rita, Neil, Jennifer E., Caluseriu, Oana, Li, Dong, Ganetzky, Rebecca D., Brasch-Andersen, Charlotte, Fagerberg, Christina, Hansen, Lars Kjærsgaard, Bupp, Caleb, Muraresku, Colleen Clarke, Ruan, Xiangbin, Kang, Bowei, Hu, Kaining, Zhong, Rong, Brites, Pedro, Bhoj, Elizabeth J., Hill, Robert Sean, Falk, Marni J., Hakonarson, Hakon, Kahle, Kristopher T., Sousa, Monica M., Walsh, Christopher A., Zhang, Xiaochang

Source: In Genetics in Medicine February 2022 24(2):319-331

The pursuit of precision mitochondrial medicine: Harnessing preclinical cellular and animal models to optimize mitochondrial disease therapeutic discovery

Authors: Falk, Marni J.

Source: Journal of inherited metabolic disease. 44(2):312-324

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100138922533.0x000001&indx=1&recIds=ETOCvdc_100138922533.0x000001

Development of a Mitochondrial Myopathy‐Composite Assessment Tool

Authors: Flickinger, Jean, Fan, Jiaxin, Wellik, Amanda, Ganetzky, Rebecca, Goldstein, Amy, Muraresku, Colleen C., Glanzman, Allan M., Ballance, Elizabeth, Leonhardt, Kristin, McCormick, Elizabeth M., Soreth, Brianna, Nguyen, Sara, Gornish, Jennifer, George‐Sankoh, Ibrahim, Peterson, James, MacMullen, Laura E., Vishnubhatt, Shailee, McBride, Michael, Haas, Richard, Falk, Marni J., Xiao, Rui, Zolkipli‐Cunningham, Zarazuela

Source: JCSM clinical reports. 6(4):109-127

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131026436.0x000001&indx=1&recIds=ETOCvdc_100131026436.0x000001

Understanding the phenotypic spectrum of ASXL‐related disease: Ten cases and a review of the literature

Authors: 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.

Source: American journal of medical genetics.Part A. 185(6):1700-1711

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121053741.0x000001&indx=1&recIds=ETOCvdc_100121053741.0x000001

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Authors: Sheppard, Sarah E., Campbell, Ian M., Harr, Margaret H., Gold, Nina, Li, Dong, Bjornsson, Hans T., Cohen, Julie S., Fahrner, Jill A., Fatemi, Ali, Harris, Jacqueline R., Nowak, Catherine, Stevens, Cathy A., Grand, Katheryn, Au, Margaret, Graham, John M., Sanchez‐Lara, Pedro A., Campo, Miguel Del, Jones, Marilyn C., Abdul‐Rahman, Omar, Alkuraya, Fowzan S., Bassetti, Jennifer A., Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D., Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, A. Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J., Rahbeeni, Zuhair, Ben‐Shachar, Shay, Shieh, Joseph T., Slavotinek, Anne, Sobering, Andrew K., Abbott, Mary‐Alice, Allain, Dawn C., Amlie‐Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A., Cytrynbaum, Cheryl, Chung, Brian Hon‐Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores‐Daboub, Josue A., Dubbs, Holly, Felix, Carolyn A., Fong, Chin‐To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K., Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui‐Yan, Jobling, Rebekah K., Knight Johnson, Amy E., Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D. Ross, Mentch, Frank D., Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F., Porazzi, Patrizia, Pichurin, Pavel N., Powell‐Hamilton, Nina N., Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina J., Falk, Marni J., Hakonarson, Hakon, Zackai, Elaine H., Quintero‐Rivera, Fabiola

Source: American journal of medical genetics.Part A. 185(6):1649-1665

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121053526.0x000001&indx=1&recIds=ETOCvdc_100121053526.0x000001

Combinatorial glucose, nicotinic acid and N-acetylcysteine therapy has synergistic effect in preclinical C. elegans and zebrafish models of mitochondrial complex I disease

Authors: Guha, Sujay, Mathew, Neal D, Konkwo, Chigoziri, Ostrovsky, Julian, Kwon, Young Joon, Polyak, Erzsebet, Seiler, Christoph, Bennett, Michael, Xiao, Rui, Zhang, Zhe, Nakamaru-Ogiso, Eiko, Falk, Marni J

Source: Human molecular genetics. 30(7):536-551

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131107927.0x000001&indx=1&recIds=ETOCvdc_100131107927.0x000001

MMFP-Tableau: enabling precision mitochondrial medicine through integration, visualization, and analytics of clinical and research health system electronic data.

Authors: George-Sankoh, Ibrahim, MacMullen, Laura E, Chinwalla, Asif T, Taylor, Deanne, Ganetzky, Rebecca D, Stanley, Katelynn, McCormick, Elizabeth M, Zolkipli-Cunningham, Zarazuela, Falk, Marni J

Source: JAMIA Open; Dec2024, Vol. 7 Issue 4, p1-10, 10p

Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.

Authors: Karaa, Amel, Bertini, Enrico, Carelli, Valerio, Cohen, Bruce, Ennes, Gregory M., Falk, Marni J., Goldstein, Amy, Gorman, Gráinne, Haas, Richard, Hirano, Michio, Klopstock, Thomas, Koenig, Mary Kay, Kornblum, Cornelia, Lamperti, Costanza, Lehman, Anna, Longo, Nicola, Molnar, Maria Judit, Parikh, Sumit, Phan, Han, Pitceathly, Robert D. S.

Source: Orphanet Journal of Rare Diseases; 11/21/2024, Vol. 19 Issue 1, p1-12, 12p

Subject Terms: NUCLEAR DNA, CLINICAL trials, GENETIC variation, REPLISOMES, MITOCHONDRIAL DNA, MITOCHONDRIA

Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease

Authors: Shen, Lishuang, McCormick, Elizabeth M., Muraresku, Colleen Clarke, Falk, Marni J., Gai, Xiaowu

Source: In Clinics in Laboratory Medicine June 2020 40(2):149-161

Chapter 108 - Mitochondrial Disease Diagnosis

Authors: McCormick, Elizabeth M., Falk, Marni J.

Source: In Nelson Textbook of Pediatrics Edition: 22nd Edition. 2025:931-937