Catecholamine Toxicity in Aromatic l-Amino Acid Decarboxylase Deficiency von Anselm, Irina A., Darras, Basil T.

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CARDIAC MANIFESTATIONS IN A CHILD WITH A NOVEL MUTATION IN CREATINE TRANSPORTER GENE SLC6A8 von ANSELM, Irina A, COULTER, David L, DARRAS, Basil T

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Childhood primary angiitis of the central nervous system: Two biopsy-proven cases von Yaari, Roy, Anselm, Irina A., Szer, Ilona S., Malicki, Denise M., Nespeca, Mark P., Gleeson, Joseph G.

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Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial von Anselm, Irina A, Darras, Basil T

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Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management von Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M, Saneto, Russell

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Age- and gender-dependent obesity in individuals with 16p11.2 deletion von Yu, Yongguo, Zhu, Haitao, Miller, David T., Gusella, James F., Platt, Orah S., Wu, Bai-Lin, Shen, Yiping

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Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society von 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

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Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society von 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

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Effects of Prandial Versus Fasting Glycemia on Cardiovascular Outcomes in Type 2 Diabetes: The HEART2D trial von Raz, Itamar, Wilson, Peter W.F, Strojek, Krzysztof, Kowalska, Irina, Bozikov, Velimir, Gitt, Anselm K, Jermendy, György, Campaigne, Barbara N, Kerr, Lisa, Milicevic, Zvonko, Jacober, Scott J

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Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease von 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

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A modern approach to the treatment of mitochondrial disease von Parikh, Sumit, Saneto, Russell, Falk, Marni J., Anselm, Irina, Cohen, Bruce H., Haas, Richard

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Patient selection considerations for AADC deficiency gene therapy von Roubertie, Agathe, Anselm, Irina, Ben‐Zeev, Bruria, Hwu, Wuh‐Liang, Kumar, Ashutosh, Monteleone, Berrin, Muramatsu, Shin‐ichi, Leuzzi, Vincenzo, Ibáñez, Salvador, Stone, Scellig, Pearl, Phillip L.

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First report of childhood progressive cerebellar atrophy due to compound heterozygous MTFMT variants von Bai, Renkui, Haude, Katrina, Yang, Edward, Goldstein, Amy, Anselm, Irina

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Neurologists Unite for Ukraine: Grassroots Movement Transformed into Lasting Collaboration (P4-8.013) von 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

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An integrated workflow for enhanced taxonomic and functional coverage of the mouse fecal metaproteome von Nalpas, Nicolas, Hoyles, Lesley, Anselm, Viktoria, Ganief, Tariq, Martinez-Gili, Laura, Grau, Cristina, Droste-Borel, Irina, Davidovic, Laetitia, Altafaj, Xavier, Dumas, Marc-Emmanuel, Macek, Boris

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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism von Guillen Sacoto, Maria J., 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., 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

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Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype von Gartner, Valerie, Markello, Thomas C., Macnamara, Ellen, De Biase, Andrea, Thurm, Audrey, Joseph, Lisa, Beggs, Alan H., Schmahmann, Jeremy D., Berry, Gerard T., Anselm, Irina, Boslet, Emma, Tifft, Cynthia J., Gahl, William A., Lee, Paul R.

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A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome von Han, Julia, Bichell, Terry Jo, Golden, Stephanie, Anselm, Irina, Waisbren, Susan, Bacino, Carlos A, Peters, Sarika U, Bird, Lynne M, Kimonis, Virginia

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Clinical Characteristics of Creatine Transporter Deficiency (CTD): Final Results of the Vigilan Observational Study (P8-8.002) von Brandabur, Melanie, Bianconi, Simona, Anselm, Irina, Barshop, Bruce A., Berry-Kravis, Elizabeth, Koeberl, Dwight D., Cecil, Kim M., Hannah-Shmouni, Fady, Longo, Nicola, Mercimek-Andrews, Saadet, Porter, Forbes D., Rahhal, Samar, Sutton, Reid, Blair, Susan, Cimms, Tricia, Zhang, Lin, PhD, Cristan Farmer, Thurm, Audrey, Miller, Judith

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Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders von 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

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