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	1.	Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA. [electronic resource] by McCormick, Elizabeth M Kenyon, Lawrence Falk, Marni J Producer: 20150622 In: Frontiers in genetics vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Mitochondrial Genomics: A complex field now coming of age. [electronic resource] by McCormick, Elizabeth M Muraresku, Colleen C Falk, Marni J Publication details: Current genetic medicine reports Jun 2018 In: Current genetic medicine reports vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease. [electronic resource] by McCormick, Elizabeth M Zolkipli-Cunningham, Zarazuela Falk, Marni J Producer: 20190730 In: Current opinion in pediatrics vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies. [electronic resource] by Muraresku, Colleen C McCormick, Elizabeth M Falk, Marni J Publication details: Current genetic medicine reports Jun 2018 In: Current genetic medicine reports vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Risk factors for poor bone health in primary mitochondrial disease. [electronic resource] by Gandhi, Shifa S Muraresku, Colleen McCormick, Elizabeth M Falk, Marni J McCormack, Shana E Producer: 20180712 In: Journal of inherited metabolic disease vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases. [electronic resource] by Ganetzky, Rebecca D Stendel, Claudia McCormick, Elizabeth M Zolkipli-Cunningham, Zarazuela Goldstein, Amy C Klopstock, Thomas Falk, Marni J Producer: 20200309 In: Human mutation vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Assessing genotype-phenotype correlation in Costello syndrome using a severity score. [electronic resource] by McCormick, Elizabeth M Hopkins, Elizabeth Conway, Laura Catalano, Sarah Hossain, Jobayer Sol-Church, Katia Stabley, Deborah L Gripp, Karen W Producer: 20140508 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Mitochondrial function requires NGLY1. [electronic resource] by Kong, Jianping Peng, Min Ostrovsky, Julian Kwon, Young Joon Oretsky, Olga McCormick, Elizabeth M He, Miao Argon, Yair Falk, Marni J Producer: 20181112 In: Mitochondrion vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Mitochondrial disease patient motivations and barriers to participate in clinical trials. [electronic resource] by 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 Producer: 20181211 In: PloS one vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	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-Sayre, and Leigh syndromes. [electronic resource] by 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 Producer: 20200316 In: PloS one vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. [electronic resource] by Kruszka, Paul Li, Dong Harr, Margaret H Wilson, Nathan R Swarr, Daniel McCormick, Elizabeth M Chiavacci, Rosetta M Li, Mindy Martinez, Ariel F Hart, Rachel A McDonald-McGinn, Donna M Deardorff, Matthew A Falk, Marni J Allanson, Judith E Hudson, Cindy Johnson, John P Saadi, Irfan Hakonarson, Hakon Muenke, Maximilian Zackai, Elaine H Producer: 20160222 In: Journal of medical genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. [electronic resource] by Barca, Emanuele Ganetzky, Rebecca D Potluri, Prasanth Juanola-Falgarona, Marti Gai, Xiaowu Li, Dong Jalas, Chaim Hirsch, Yoel Emmanuele, Valentina Tadesse, Saba Ziosi, Marcello Akman, Hasan O Chung, Wendy K Tanji, Kurenai McCormick, Elizabeth M Place, Emily Consugar, Mark Pierce, Eric A Hakonarson, Hakon Wallace, Douglas C Hirano, Michio Falk, Marni J Producer: 20190328 In: Human molecular genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Diagnosis of 'possible' mitochondrial disease: an existential crisis. [electronic resource] by Parikh, Sumit Karaa, Amel Goldstein, Amy Bertini, Enrico Silvio Chinnery, Patrick F Christodoulou, John Cohen, Bruce H Davis, Ryan L Falk, Marni J Fratter, Carl Horvath, Rita Koenig, Mary Kay Mancuso, Michaelangelo McCormack, Shana McCormick, Elizabeth M McFarland, Robert Nesbitt, Victoria Schiff, Manuel Steele, Hannah Stockler, Silvia Sue, Carolyn Tarnopolsky, Mark Thorburn, David R Vockley, Jerry Rahman, Shamima Producer: 20200514 In: Journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	International Paediatric Mitochondrial Disease Scale. [electronic resource] by Koene, Saskia Hendriks, Jan C M Dirks, Ilse de Boer, Lonneke de Vries, Maaike C Janssen, Mirian C H Smuts, Izelle Fung, Cheuk-Wing Wong, Virginia C N de Coo, I René F M Vill, Katharina Stendel, Claudia Klopstock, Thomas Falk, Marni J McCormick, Elizabeth M McFarland, Robert de Groot, Imelda J M Smeitink, Jan A M Producer: 20171206 In: Journal of inherited metabolic disease vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers. [electronic resource] by Li, Dong Yuan, Hongjie Ortiz-Gonzalez, Xilma R Marsh, Eric D Tian, Lifeng McCormick, Elizabeth M Kosobucki, Gabrielle J Chen, Wenjuan Schulien, Anthony J Chiavacci, Rosetta Tankovic, Anel Naase, Claudia Brueckner, Frieder von Stülpnagel-Steinbeis, Celina Hu, Chun Kusumoto, Hirofumi Hedrich, Ulrike B S Elsen, Gina Hörtnagel, Konstanze Aizenman, Elias Lemke, Johannes R Hakonarson, Hakon Traynelis, Stephen F Falk, Marni J Producer: 20170524 In: American journal of human genetics vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. [electronic resource] by Lake, Nicole J Webb, Bryn D Stroud, David A Richman, Tara R Ruzzenente, Benedetta Compton, Alison G Mountford, Hayley S Pulman, Juliette Zangarelli, Coralie Rio, Marlene Boddaert, Nathalie Assouline, Zahra Sherpa, Mingma D Schadt, Eric E Houten, Sander M Byrnes, James McCormick, Elizabeth M Zolkipli-Cunningham, Zarazuela Haude, Katrina Zhang, Zhancheng Retterer, Kyle Bai, Renkui Calvo, Sarah E Mootha, Vamsi K Christodoulou, John Rötig, Agnes Filipovska, Aleksandra Cristian, Ingrid Falk, Marni J Metodiev, Metodi D Thorburn, David R Publication details: American journal of human genetics 04 2018 In: American journal of human genetics vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. [electronic resource] by Lake, Nicole J Webb, Bryn D Stroud, David A Richman, Tara R Ruzzenente, Benedetta Compton, Alison G Mountford, Hayley S Pulman, Juliette Zangarelli, Coralie Rio, Marlene Boddaert, Nathalie Assouline, Zahra Sherpa, Mingma D Schadt, Eric E Houten, Sander M Byrnes, James McCormick, Elizabeth M Zolkipli-Cunningham, Zarazuela Haude, Katrina Zhang, Zhancheng Retterer, Kyle Bai, Renkui Calvo, Sarah E Mootha, Vamsi K Christodoulou, John Rötig, Agnes Filipovska, Aleksandra Cristian, Ingrid Falk, Marni J Metodiev, Metodi D Thorburn, David R Producer: 20170907 In: American journal of human genetics vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. [electronic resource] by Madeo, Marianna Stewart, Michelle Sun, Yuyang Sahir, Nadia Wiethoff, Sarah Chandrasekar, Indra Yarrow, Anna Rosenfeld, Jill A Yang, Yaping Cordeiro, Dawn McCormick, Elizabeth M Muraresku, Colleen C Jepperson, Tyler N McBeth, Lauren J Seidahmed, Mohammed Zain El Khashab, Heba Y Hamad, Muddathir Azzedine, Hamid Clark, Karl Corrochano, Silvia Wells, Sara Elting, Mariet W Weiss, Marjan M Burn, Sabrina Myers, Angela Landsverk, Megan Crotwell, Patricia L Waisfisz, Quinten Wolf, Nicole I Nolan, Patrick M Padilla-Lopez, Sergio Houlden, Henry Lifton, Richard Mane, Shrikant Singh, Brij B Falk, Marni J Mercimek-Mahmutoglu, Saadet Bilguvar, Kaya Salih, Mustafa A Acevedo-Arozena, Abraham Kruer, Michael C Producer: 20170510 In: American journal of human genetics vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. [electronic resource] by Haijes, Hanneke A Koster, Maria J E Rehmann, Holger Li, Dong Hakonarson, Hakon Cappuccio, Gerarda Hancarova, Miroslava Lehalle, Daphne Reardon, Willie Schaefer, G Bradley Lehman, Anna van de Laar, Ingrid M B H Tesselaar, Coranne D Turner, Clesson Goldenberg, Alice Patrier, Sophie Thevenon, Julien Pinelli, Michele Brunetti-Pierri, Nicola Prchalová, Darina Havlovicová, Markéta Vlckova, Markéta Sedláček, Zdeněk Lopez, Elena Ragoussis, Vassilis Pagnamenta, Alistair T Kini, Usha Vos, Harmjan R van Es, Robert M van Schaik, Richard F M A van Essen, Ton A J Kibaek, Maria Taylor, Jenny C Sullivan, Jennifer Shashi, Vandana Petrovski, Slave Fagerberg, Christina Martin, Donna M van Gassen, Koen L I Pfundt, Rolph Falk, Marni J McCormick, Elizabeth M Timmers, H T Marc van Hasselt, Peter M Producer: 20200316 In: American journal of human genetics vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)