Not logged in Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease Wang, Jing; Peterson, James T.; Santos, Joaquim Diego D.; Chan, Ada J. S.; Diaz-Miranda, Maria Alejandra; Rahaman, Imon; Flickinger, Jean; Goldstein, Amy; Bogush, Emily; Mccormick, Elizabeth M.; Muraresku, Colleen C.; Anderson, Vernon E.; Dulik, Matthew C.; Wallace, Douglas C.; Xiao, Rui; Falk, Marni J.; Viaene, Angela N.; Zolkipli-Cunningham, Zarazuela Share Save
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Mitochondrial diseases in North America: An analysis of the NAMDC Registry Barca, Emanuele; Long, Yuelin; Cooley, Victoria; Schoenaker, Robert; Emmanuele, Valentina; DiMauro, Salvatore; Cohen, Bruce H.; Karaa, Amel; Vladutiu, Georgirene D.; Haas, Richard; Van Hove, Johan L. K.; Scaglia, Fernando; Parikh, Sumit; Bedoyan, Jirair K.; DeBrosse, Susanne D.; Gavrilova, Ralitza H.; Saneto, Russell P.; Enns, Gregory M.; Stacpoole, Peter W.; Ganesh, Jaya; Larson, Austin; Zolkipli-Cunningham, Zarazuela; Falk, Marni J.; Goldstein, Amy C.; Tarnopolsky, Mark; Gropman, Andrea; Camp, Kathryn; Krotoski, Danuta; Engelstad, Kristin; Rosales, Xiomara Q.; Kriger, Joshua; Grier, Johnston; Buchsbaum, Richard; Thompson, John L. P.; Hirano, Michio Share Save
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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling Johnson, Brett, V; Kumar, Raman; Oishi, Sabrina; Alexander, Suzy; Kasherman, Maria; Vega, Michelle Sanchez; Ivancevic, Atma; Gardner, Alison; Domingo, Deepti; Corbett, Mark; Parnell, Euan; Yoon, Sehyoun; Oh, Tracey; Lines, Matthew; Lefroy, Henrietta; Kini, Usha; Van Allen, Margot; Gronborg, Sabine; Mercier, Sandra; Kury, Sebastien; Bezieau, Stephane; Pasquier, Laurent; Raynaud, Martine; Afenjar, Alexandra; de Villemeur, Thierry Billette; Keren, Boris; Desir, Julie; Van Maldergem, Lionel; Marangoni, Martina; Dikow, Nicola; Koolen, David A.; VanHasselt, Peter M.; Weiss, Marjan; Zwijnenburg, Petra; Sa, Joaquim; Reis, Claudia Falcao; Lopez-Otin, Carlos; Santiago-Fernandez, Olaya; Fernandez-Jaen, Alberto; Rauch, Anita; Steindl, Katharina; Joset, Pascal; Goldstein, Amy; Madan-Khetarpal, Suneeta; Infante, Elena; Zackai, Elaine; Mcdougall, Carey; Narayanan, Vinodh; Ramsey, Keri; Mercimek-Andrews, Saadet; Pena, Loren; Shashi, Vandana; Schoch, Kelly; Sullivan, Jennifer A.; E Vairo, Filippo Pinto; Pichurin, Pavel N.; Ewing, Sarah A.; Barnett, Sarah S.; Klee, Eric W.; Perry, M. Scott; Koenig, Mary Kay; Keegan, Catherine E.; Schuette, Jane L.; Asher, Stephanie; Perilla-Young, Yezmin; Smith, Laurie D.; Rosenfeld, Jill A.; Bhoj, Elizabeth; Kaplan, Paige; Li, Dong; Oegema, Renske; van Binsbergen, Ellen; van der Zwaag, Bert; Smeland, Marie Falkenberg; Cutcutache, Ioana; Page, Matthew; Armstrong, Martin; Lin, Angela E.; Steeves, Marcie A.; den Hollander, Nicolette; Hoffer, Mariette J., V; Reijnders, Margot R. F.; Demirdas, Serwet; Koboldt, Daniel C.; Bartholomew, Dennis; Mosher, Theresa Mihalic; Hickey, Scott E.; Shieh, Christine; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Tezcan, Kamer; Schaefer, G. B.; Danylchuk, Noelle R.; Asamoah, Alexander; Jackson, Kelly E.; Yachelevich, Naomi; Au, Margaret; Perez-Jurado, Luis A.; Kleefstra, Tjitske; Penzes, Peter; Wood, Stephen A.; Burne, Thomas; Pierson, Tyler Mark; Piper, Michael; Gecz, Jozef; Jolly, Lachlan A.; Acosta, Maria T.; Adams, David R.; Aday, Aaron; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Barbouth, Deborah; Batzli, Gabriel F.; Beggs, Alan H.; Bellen, Hugo J.; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bivona, Stephanie; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Briere, Lauren C.; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D'Souza, Precilla; Dasari, Surendra; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Duncan, Laura; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gregory M.; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Friedman, Noah D.; Gahl, William A.; Godfrey, Rena A.; Goldman, Alica M.; Goldstein, David B.; Gourdine, Jean-Philippe F.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; High, Frances; Holm, Ingrid A.; Hom, Jason; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Karaviti, Lefkothea; Kelley, Emily G.; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lam, Byron; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Malicdan, May Christine, V; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; May, Thomas; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Morava-Kozicz, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nath, Avi; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Renteri, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rowley, Robb K.; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Scott, Daryl A.; Shakachite, Lisa; Sharma, Prashant; Shields, Kathleen; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sweetser, David A.; Tamburro, Cecelia P.; Tan, Queenie K-G; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Bobbie-Jo, M.; Webb-Robertson; Wegner, Daniel; Field, Monte Wester; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Woods, Jeremy D.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, John; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan Share Save
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons Bell, Scott; Rousseau, Justine; Peng, Huashan; Aouabed, Zahia; Priam, Pierre; Theroux, Jean-Francois; Jefri, Malvin; Tanti, Arnaud; Wu, Hanrong; Kolobova, Ilaria; Silviera, Heika; Manzano-Vargas, Karla; Ehresmann, Sophie; Hamdan, Fadi F.; Hettige, Nuwan; Zhang, Xin; Antonyan, Lilit; Nassif, Christina; Ghaloul-Gonzalez, Lina; Sebastian, Jessica; Vockley, Jerry; Begtrup, Amber G.; Wentzensen, Ingrid M.; Crunk, Amy; Nicholls, Robert D.; Herman, Kristin C.; Deignan, Joshua L.; Al-Hertani, Walla; Efthymiou, Stephanie; Salpietro, Vincenzo; Miyake, Noriko; Makita, Yoshio; Matsumoto, Naomichi; Ostern, Rune; Houge, Gunnar; Hafstrom, Maria; Fassi, Emily; Houlden, Henry; Wassink-Ruiter, Jolien S. Klein; Nelson, Dominic; Goldstein, Amy; Dabir, Tabib; van Gils, Julien; Bourgeron, Thomas; Delorme, Richard; Cooper, Gregory M.; Martinez, Jose E.; Finnila, Candice R.; Carmant, Lionel; Lortie, Anne; Oegema, Renske; van Gassen, Koen; Mehta, Sarju G.; Huhle, Dagmar; Abou Jamra, Rami; Martin, Sonja; Brunner, Han G.; Lindhout, Dick; Au, Margaret; Graham, John M., Jr.; Coubes, Christine; Turecki, Gustavo; Gravel, Simon; Mechawar, Naguib; Rossignol, Elsa; Michaud, Jacques L.; Lessard, Julie; Ernst, Carl; Campeau, Philippe M. Share Save
Diagnosis of 'possible' mitochondrial disease: an existential crisis 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 Share Save
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A recurrent de novo missense mutation in UBTF causes developmental neuroregression (vol 27, pg 691, 2018) Toro, Camilo; Hori, Roderick T.; Malicdan, May Christine V.; Tifft, Cynthia J.; Goldstein, Amy; Gahl, William A.; Adams, David R.; Fauni, Harper B.; Wolfe, Lynne A.; Xiao, Jianfeng; Khan, Mohammad M.; Tian, Jun; Hope, Kevin A.; Reiter, Lawrence T.; Tremblay, Michel G.; Moss, Tom; Franks, Alexis L.; Balak, Chris; LeDoux, Mark S. Share Save
A recurrent de novo missense mutation in UBTF causes developmental neuroregression Toro, Camilo; Hori, Roderick T.; Malicdan, May Christine V.; Tifft, Cynthia J.; Goldstein, Amy; Gahl, William A.; Adams, David R.; Harper, Fauni; Wolfe, Lynne A.; Xiao, Jianfeng; Khan, Mohammad M.; Tian, Jun; Hope, Kevin A.; Reiter, Lawrence T.; Tremblay, Michel G.; Moss, Tom; Franks, Alexis L.; Balak, Chris; LeDoux, Mark S. Share Save
Management of ophthalmologic manifestations of mitochondrial diseases Response 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. Share Save
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. Share Save
Nutritional interventions in primary mitochondrial disorders: Developing an evidence base Camp, Kathryn M.; Krotoski, Danuta; Parisi, Melissa A.; Gwinn, Katrina A.; Cohen, Bruce H.; Cox, Christine S.; Enns, Gregory M.; Falk, Marni J.; Goldstein, Amy C.; Gopal-Srivastava, Rashmi; Gorman, Grainne S.; Hersh, Stephen P.; Hirano, Michio; Hoffman, Freddie Ann; Karaa, Amel; MacLeod, Erin L.; McFarland, Robert; Mohan, Charles; Mulberg, Andrew E.; Odenkirchen, Joanne C.; Parikh, Sumit; Rutherford, Patricia J.; Suggs-Anderson, Shawne K.; Tang, W. H. Wilson; Vockley, Jerry; Wolfe, Lynne A.; Yannicelli, Steven; Yeske, Philip E.; Coates, Paul M. Share Save
Mitochondrial respiratory chain disorders in the Old Order Amish population Ghaloul-Gonzalez, Lina; Goldstein, Amy; Vockley, Catherine Walsh; Dobrowolski, Steven F.; Biery, Amy; Irani, Afifa; Ibarra, Jordan; Morton, D. Holmes; Mohsen, Al-Walid; Vockley, Jerry Share Save
Solid organ transplantation in primary mitochondrial disease: Proceed with caution Parikh, Sumit; Karaa, Amel; Goldstein, Amy; Ng, Yi S.; Gorman, Grainne; Feigenbaum, Annette; Christodoulou, John; Haas, Richard; Tarnopolsky, Mark; Cohen, Bruce K.; Dimmock, David; Feyma, Tim; Koenig, Mary K.; Mundy, Helen; Niyazov, David; Saneto, Russell P.; Wainwright, Mark S.; Wusthoff, Courtney; McFarland, Robert; Scaglia, Fernando Share Save
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 Share Save
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Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges Parikh, Sumit; Goldstein, Amy; Koenig, Mary Kay; Scaglia, Fernando; Enns, Gregory M.; Saneto, Russell; Anselm, Irina; Collins, Abigail; Cohen, Bruce H.; DeBrosse, Suzanne D.; Dimmock, David; Falk, Marni J.; Ganesh, Jaya; Greene, Carol; Gropman, Andrea L.; Haas, Richard; Kahler, Stephen G.; Kamholz, John; Kendall, Fran; Korson, Mark S.; Mattman, Andre; Milone, Margherita; Niyazov, Dmitriy; Pearl, Phillip L.; Reimschisel, Tyler; Salvarinova-Zivkovic, Ramona; Sims, Katherine; Tarnopolsky, Mark; Tsao, Chang-Yong; van Hove, Johan; Walsh, Laurence; Wolfe, Lynne A. Share Save
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