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Gene therapy in advanced metachromatic leukodystrophy: tempering expectations Schoenmakers, Daphne H.; Beerepoot, Shanice; Adang, Laura A.; Asbreuk, Marije A. B. C.; Bergner, Caroline G.; Bley, Annette E.; Boelens, Jaap-Jan; Calbi, Valeria; Darling, Alejandra; Eklund, Erik; Garcia Cazorla, Angeles; Gronborg, Sabine W.; Groeschel, Samuel; van Hasselt, Peter M.; Hollak, Carla E. M.; Horgan, Claire; Jones, Simon; de Koning, Tom; Laugwitz, Lucia; Lindemans, Caroline; Martin, Pascal; Mochel, Fanny; Oberg, Andreas; Ram, Dipak; Sevin, Caroline; Schoels, Ludger; Zerem, Ayelet; Wolf, Nicole, I; Fumagalli, Francesca Share Save
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States Adang, Laura A.; Bonkowsky, Joshua L.; Boelens, Jaap Jan; Mallack, Eric; Ahrens-Nicklas, Rebecca; Bernat, John A.; Bley, Annette; Burton, Barbara; Darling, Alejandra; Eichler, Florian; Eklund, Erik; Emrick, Lisa; Escolar, Maria; Fatemi, Ali; Fraser, Jamie L.; Gaviglio, Amy; Keller, Stephanie; Patterson, Marc C.; Orchard, Paul; Orthmann-Murphy, Jennifer; Santoro, Jonathan D.; Schoels, Ludger; Sevin, Caroline; Srivastava, Isha N.; Rajan, Deepa; Rubin, Jennifer P.; Van Haren, Keith; Wasserstein, Melissa; Zerem, Ayelet; Fumagalli, Francesca; Laugwitz, Lucia; Vanderver, Adeline Share Save
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries Schoenmakers, Daphne H.; Mochel, Fanny; Adang, Laura A.; Boelens, Jaap-Jan; Calbi, Valeria; Eklund, Erik A.; Gronborg, Sabine W.; Fumagalli, Francesca; Groeschel, Samuel; Lindemans, Caroline; Sevin, Caroline; Schoels, Ludger; Ram, Dipak; Zerem, Ayelet; Graessner, Holm; Wolf, Nicole I. Share Save
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi) Schoenmakers, Daphne H.; Beerepoot, Shanice; van den Berg, Sibren; Adang, Laura; Bley, Annette; Boelens, Jaap-Jan; Fumagalli, Francesca; Goettsch, Wim G.; Gronborg, Sabine; Groeschel, Samuel; van Hasselt, Peter M.; Hollak, Carla E. M.; Lindemans, Caroline; Mochel, Fanny; Mol, Peter G. M.; Sevin, Caroline; Zerem, Ayelet; Schols, Ludger; Wolf, Nicole, I Share Save
Further Delineation of the Clinical and Pathologic Features of HIKESHI- Related Hypomyelinating Leukodystrophy Helman, Guy; Zerem, Ayelet; Almad, Akshata; Hacker, Julia L.; Woidill, Sarah; Sase, Sunetra; LeFevre, Alexandra N.; Ekstein, Josef; Johansson, Martin M.; Stutterd, Chloe A.; Taft, Ryan J.; Simons, Cas; Grinspan, Judith B.; Pizzino, Amy; Schmidt, Johanna L.; Harding, Brian; Hirsch, Yoel; Viaene, Angela N.; Fattal-Valevski, Aviva; Vanderver, Adeline Share Save
White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology Zerem, Ayelet; Ben-Sira, Liat; Vigdorovich, Nitzan; Leibovitz, Zvi; Fisher, Yael; Schiffmann, Raphael; Grishchuk, Yulia; Misko, Albert L.; Orenstein, Naama; Lev, Dorit; Lerman-Sagie, Tally; Kidron, Debora Share Save
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De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy Nakashima, Mitsuko; Kato, Mitsuhiro; Aoto, Kazushi; Shiina, Masaaki; Belal, Hazrat; Mukaida, Souichi; Kumada, Satoko; Sato, Atsushi; Zerem, Ayelet; Lerman-Sagie, Tally; Lev, Dorit; Leong, Huey Yin; Tsurusaki, Yoshinori; Mizuguchi, Takeshi; Miyatake, Satoko; Miyake, Noriko; Ogata, Kazuhiro; Saitsu, Hirotomo; Matsumoto, Naomichi Share Save
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies Adang, Laura A.; Sherbini, Omar; Ball, Laura; Bloom, Miriam; Darbari, Anil; Amartino, Hernan; DiVito, Donna; Eichler, Florian; Escolar, Maria; Evans, Sarah H.; Fatemi, Ali; Fraser, Jamie; Hollowell, Leslie; Jaffe, Nicole; Joseph, Christopher; Karpinski, Mary; Keller, Stephanie; Maddock, Ryan; Mancilla, Edna; McClary, Bruce; Mertz, Jana; Morgart, Kiley; Langan, Thomas; Leventer, Richard; Parikh, Sumit; Pizzino, Amy; Prange, Erin; Renaud, Deborah L.; Rizzo, William; Shapiro, Jay; Suhr, Dean; Suhr, Teryn; Tonduti, Davide; Waggoner, Jacque; Waldman, Amy; Wolf, Nicole I.; Zerem, Ayelet; Bonkowsky, Joshua L.; Bernard, Genevieve; van Haren, Keith; Vanderver, Adeline Share Save
The molecular and phenotypic spectrum of IQSEC2-related epilepsy Zerem, Ayelet; Haginoya, Kazuhiro; Lev, Dorit; Blumkin, Lubov; Kivity, Sara; Linder, Ilan; Shoubridge, Cheryl; Palmer, Elizabeth Emma; Field, Michael; Boyle, Jackie; Chitayat, David; Gaillard, William D.; Kossoff, Eric H.; Willems, Marjolaine; Genevieve, David; Tran-Mau-Them, Frederic; Epstein, Orna; Heyman, Eli; Dugan, Sarah; Masurel-Paulet, Alice; Piton, Ame'lie; Kleefstra, Tjitske; Pfundt, Rolph; Sato, Ryo; Tzschach, Andreas; Matsumoto, Naomichi; Saitsu, Hirotomo; Leshinsky-Silver, Esther; Lerman-Sagie, Tally Share Save
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