Not logged in Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study Miller, Judith S.; Farmer, Cristan; Blair, Susan; Bianconi, Simona; Akshoomoff, Natacha; Anselm, Irina; Barshop, Bruce A.; Becker, Lindsey; Bennett, Amanda E.; Berry, Leandra N.; Berry-Kravis, Elizabeth M.; Bruchey, Aleksandra; Byars, Anna W.; Cimms, Tricia; Cecil, Kim M.; Covello, Maxine; Cubit, Laura S.; Das, Tanvi; Davis, Robert J.; Drye, Madison; Ficicioglu, Can; Fulton, John B.; Goin-Kochel, Robin P.; Guthrie, Whitney; Hallinan, Barbara E.; Hannah-Shmouni, Fady; Gustafson, Kathryn E.; Koeberl, Dwight D.; Longo, Nicola; Mamak, Eva; Mercimek-Andrews, Saadet; Michalak, Claire; Porter, Forbes D.; Rahhal, Samar; Rees, Linda; Spiridigliozzi, Gail A.; Stone, Caitlin; Sullivan, Nancy R.; Sutton, V. Reid; Thomas, Rebecca P.; Udhnani, Manisha; Waisbren, Susan; Xu, Michelle; Zhang, Lin; Brandabur, Melanie; Thurm, Audrey Share Save
Neurologists Unite for Ukraine: Grassroots Movement Transformed into Lasting Collaboration BriscoeAbath, Christina; Tychkivska, Olha; Hadjinicolaou, Aristides; Minster, Anna; Anselm, Irina; Friedman, Danielle; Ivaniuk, Alina; Wirrell, Elaine; Sharinn, Alina; Paciorkowski, Alexander; Snyder, Yuliya; Corcoran, Mike; Stone, Todd; Samad, Ozzy; Kielian, Agnieszka; Faktorovich, Svetlana Share Save
Interim results of the Vigilan observational study: clinical characteristics of creatine transporter deficiency Miller, Judith; Bianconi, Simona; Anselm, Irina; Barshop, Bruce; Berry-Kravis, Elizabeth; Cecil, Kim; Hannah-Shmouni, Fady; Koeberl, Dwight; Longo, Nicola; Mercimek-Andrews, Saadet; Porter, Forbes; Sutton, V. Reid; Ayalon, Gai; Blair, Susan; Brandabur, Melanie; Rees, Linda; Zhang, Lin; Thurm, Audrey Share Save
Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease Hwu, Paul Wuh-Liang; Kiening, Karl; Anselm, Irina; Compton, David R.; Nakajima, Takeshi; Opladen, Thomas; Pearl, Phillip L.; Roubertie, Agathe; Roujeau, Thomas; Muramatsu, Shin-ichi Share Save
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism Sacoto, Maria J. Guillen; Tchasovnikarova, Iva A.; Torti, Erin; Forster, Cara; Andrew, E. Hallie; Anselm, Irina; Baranano, Kristin W.; Briere, Lauren C.; Cohen, Julie S.; Craigen, William J.; Cytrynbaum, Cheryl; Ekhilevitch, Nina; Elrick, Matthew J.; Fatemi, Ali; Fraser, Jamie L.; Gallagher, Renata C.; Guerin, Andrea; Haynes, Devon; High, Frances A.; Inglese, Cara N.; Kiss, Courtney; Koenig, Mary Kay; Krier, Joel; Lindstrom, Kristin; Marble, Michael; Meddaugh, Hannah; Moran, Ellen S.; Morel, Chantal F.; Mu, Weiyi; Muller, Eric A., II; Nance, Jessica; Natowicz, Marvin R.; Numis, Adam L.; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E.; Streff, Haley; Sweetser, David A.; Szybowska, Marta; Walker, Melissa A.; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G.; Yoon, Grace; Kingston, Robert E.; Juusola, Jane Share Save
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy Thi Tuyet Mai Nguyen; Murakami, Yoshiko; Mobilio, Sabrina; Niceta, Marcello; Zampino, Giuseppe; Philippe, Christophe; Moutton, Sebastien; Zaki, Maha S.; James, Kiely N.; Musaev, Damir; Mu, Weiyi; Baranano, Kristin; Nance, Jessica R.; Rosenfeld, Jill A.; Braverman, Nancy; Ciolfi, Andrea; Millan, Francisca; Person, Richard E.; Bruel, Ange-Line; Thauvin-Robinet, Christel; Ververi, Athina; DeVile, Catherine; Male, Alison; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Maqbool, Shazia; Rahman, Fatima; Baratang, Nissan, V; Rousseau, Justine; St-Denis, Anik; Elrick, Matthew J.; Anselm, Irina; Rodan, Lance H.; Tartaglia, Marco; Gleeson, Joseph; Kinoshita, Taroh; Campeau, Philippe M. Share Save
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Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region Kelly, McKenna; Park, Meredith; Mihalek, Ivana; Rochtus, Anne; Gramm, Marie; Perez-Palma, Eduardo; Axeen, Erika Takle; Hung, Christina Y.; Olson, Heather; Swanson, Lindsay; Anselm, Irina; Briere, Lauren C.; High, Frances A.; Sweetser, David A.; Kayani, Saima; Snyder, Molly; Calvert, Sophie; Scheffer, Ingrid E.; Yang, Edward; Waugh, Jeff L.; Lal, Dennis; Bodamer, Olaf; Poduri, Annapurna; Adams, David R.; Aday, Aaron; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Baker, Eva; Balasubramanyam, Ashok; Barseghyan, Hayk; Batzli, Gabriel F.; Beggs, Alan H.; Behnam, Babak; Bellen, Hugo J.; Bernstein, Jonathan A.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Chen, Shan; Clark, Gary D.; Coakley, Terra R.; Cogan, Joy D.; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D'Souza, Precilla; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina M.; Donnell-Fink, Laurel A.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gre-Gory M.; Eskin, Ascia; Esteves, Cecilia; Estwick, Tyra; Fairbrother, Laura; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Friedman, Noah D.; Gahl, William A.; Glanton, Emily; Godfrey, Rena A.; Goldman, Alica M.; Goldstein, David B.; Gould, Sarah E.; Gourdine, Jean-Philippe F.; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; High, Francis; Holm, Ingrid A.; Horn, Jason; Howerton, Ellen M.; Huang, Yong; Jamal, Fariha; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Karaviti, Lefkothea; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Konick, Susan; Koziura, Mary; Krasnewich, Donna M.; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majch-erska, Marta M.; Malicdan, May Christine, V; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martin, Martin G.; Martinez-Agosto, Julian A.; Mar-waha, Shruti; May, Thomas; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa F.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Murphy, Jennifer L.; Muzny, Donna M.; Nehrebecky, Michele E.; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Orange, Jordan S.; Orengo, James P.; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Pena, Loren D. M.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Sampson, Jacinda B.; Samson, Susan L.; Schoch, Kelly; Scott, Daryl A.; Shakachite, Lisa; Sharma, Prashant; Shashi, Vandana; Signer, Rebecca; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennifer A.; Tan, Queenie K-G; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Vilain, Eric; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walker, Melissa; Walley, Nicole M.; Walsh, Chris A.; Wan, Jijun; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, Yaping; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zheng, Allison Share Save
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination Rodan, Lance H.; Qi, Wanshu; Ducker, Gregory S.; Demirbas, Didem; Laine, Regina; Yang, Edward; Walker, Melissa A.; Eichler, Florian; Rabinowitz, Joshua D.; Anselm, Irina; Berry, Gerard T. 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
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion Huang, Xiaoping; Bedoyan, Jirair K.; Demirbas, Didem; Harris, David J.; Miron, Alexander; Edelheit, Simone; Grahame, George; DeBrosse, Suzanne D.; Wong, Lee Jun; Hoppel, Charles L.; Kerr, Douglas S.; Anselm, Irina; Berry, Gerard T. 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
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
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency van de Kamp, J. M.; Betsalel, O. T.; Mercimek-Mahmutoglu, S.; Abulhoul, L.; Gruenewald, S.; Anselm, I.; Azzouz, H.; Bratkovic, D.; de Brouwer, A.; Hamel, B.; Kleefstra, T.; Yntema, H.; Campistol, J.; Vilaseca, M. A.; Cheillan, D.; D'Hooghe, M.; Diogo, L.; Garcia, P.; Valongo, C.; Fonseca, M.; Frints, S.; Wilcken, B.; von der Haar, S.; Meijers-Heijboer, H. E.; Hofstede, F.; Johnson, D.; Kant, S. G.; Lion-Francois, L.; Pitelet, G.; Longo, N.; Maat-Kievit, J. A.; Monteiro, J. P.; Munnich, A.; Muntau, A. C.; Nassogne, M. C.; Osaka, H.; Ounap, K.; Pinard, J. M.; Quijano-Roy, S.; Poggenburg, I.; Poplawski, N.; Abdul-Rahman, O.; Ribes, A.; Arias, A.; Yaplito-Lee, J.; Schulze, A.; Schwartz, C. E.; Schwenger, S.; Soares, G.; Sznajer, Y.; Valayannopoulos, V.; Van Esch, H.; Waltz, S.; Wamelink, M. M. C.; Pouwels, P. J. W.; Errami, A.; van der Knaap, M. S.; Jakobs, C.; Mancini, G. M.; Salomons, G. S. Share Save
Rhabdomyolysis, acute renal failure, and cardiac arrest secondary to status dystonicus in a child with glutaric aciduria type I Jamuar, Saumya S.; Newton, Stephanie A.; Prabhu, Sanjay P.; Hecht, Leah; Costas, Karen C.; Wessel, Ann E.; Harris, David J.; Anselm, Irina; Berry, Gerard T. Share Save
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders Miller, D. T.; Shen, Y.; Weiss, L. A.; Korn, J.; Anselm, I.; Bridgemohan, C.; Cox, G. F.; Dickinson, H.; Gentile, J.; Harris, D. J.; Hegde, V.; Hundley, R.; Khwaja, O.; Kothare, S.; Luedke, C.; Nasir, R.; Poduri, A.; Prasad, K.; Raffalli, P.; Reinhard, A.; Smith, S. E.; Sobeih, M. M.; Soul, J. S.; Stoler, J.; Takeoka, M.; Tan, W-H; Thakuria, J.; Wolff, R.; Yusupov, R.; Gusella, J. F.; Daly, M. J.; Wu, B-L Share Save
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