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EEFSEC deficiency: A selenopathy with early-onset neurodegeneration Laugwitz, Lucia; Buchert, Rebecca; Olguin, Patricio; Estiar, Mehrdad A.; Atanasova, Mihaela; Marques, Wilson, Jr.; Enssle, Joerg; Marsden, Brian; Aviles, Javiera; Gonzalez-Gutierrez, Andres; Candia, Noemi; Fabiano, Marietta; Morlot, Susanne; Peralta, Susana; Groh, Alisa; Schillinger, Carmen; Kuehn, Carolin; Sofan, Linda; Sturm, Marc; Bender, Benjamin; Tomaselli, Pedro J.; Diebold, Uta; Mueller, Amelie J.; Spranger, Stephanie; Fuchs, Maren; Freua, Fernando; Melo, Uira Souto; Mattas, Lauren; Ashtiani, Setareh; Suchowersky, Oksana; Groeschel, Samuel; Rouleau, Guy A.; Yosovich, Keren; Michelson, Marina; Leibovitz, Zvi; Bilal, Muhammad; Uctepe, Eyyup; Yesilyurt, Ahmet; Ozdogan, Orhan; Celik, Tamer; Kraegeloh-Mann, Ingeborg; Riess, Olaf; Rosewich, Hendrik; Umair, Muhammad; Lev, Dorit; Zuchner, Stephan; Schweizer, Ulrich; Lynch, David S.; Gan-Or, Ziv; Hack, Tobias B. Share Save
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
Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy Laugwitz, Lucia; Mechtler, Thomas P.; Janzen, Nils; Oliva, Petra; Kasper, Andrea-Romana; Teunissen, Charlotte E.; Buerger, Friederike; Janda, Joachim; Doering, Michaela; Weitz, Marcus; Lang, Peter; Martin, Pascal; Beck-Woedl, Stefanie; Chanson, Charlotte; Essing, Mirko M.; Shenker, Andrew; Haack, Tobias B.; Schulte, Johannes H.; Rosewich, Hendrik; Streubel, Berthold; Kasper, David C.; Groesche, Samuel Share Save
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy Adang, Laura Ann; Groeschel, Samuel; Grzyb, Chloe; D'Aiello, Russell; Gavazzi, Francesco; Sherbini, Omar; Bronner, Nowa; Patel, Akshilkumar; Vincent, Ariel; Sevagamoorthy, Anjana; Mutua, Sylvia; Muirhead, Kayla; Schmidt, Johanna; Pizzino, Amy; Yu, Emily; Jin, Danielle; Eichler, Florian; Fraser, Jamie L.; Emrick, Lisa; Van Haren, Keith; Boulanger, Jean-Martin; Ruzhnikov, Maura; Sylvain, Michel; Nguyen, Cam-Tu Emilie; Potic, Ana; Keller, Stephanie; Fatemi, Ali; Uebergang, Eloise; Poe, Michele; Yazdani, Pouneh Amir; Bernat, John; Lindstrom, Kristen; Bonkowsky, Joshua L.; Bernard, Genevieve; Stutterd, Chloe A.; Orchard, Paul; Gupta, Ashish O.; Ljungberg, Merete; Groenborg, Sabine; Zambon, Alberto; Locatelli, Sara; Fumagalli, Francesca; Elguen, Saskia; Kehrer, Christiane; Krageloh-Mann, Ingeborg; Shults, Justine; Vanderver, Adeline; Escolar, Maria L. Share Save
Human organoid model of pontocerebellar hypoplasia 2a recapitulates brain region-specific size differences Kagermeier, Theresa; Hauser, Stefan; Sarieva, Kseniia; Laugwitz, Lucia; Groeschel, Samuel; Janzarik, Wibke G.; Yentuer, Zeynep; Becker, Katharina; Schoels, Ludger; Kraegeloh-Mann, Ingeborg; Mayer, Simone Share Save
Late-onset Krabbe disease presenting as spastic paraplegia - implications of GCase and CTSB/D Maechtel, Rebecca; Dobert, Jan-Philipp; Hehr, Ute; Weiss, Alexander; Kettwig, Matthias; Laugwitz, Lucia; Groeschel, Samuel; Schmidt, Manuel; Arnold, Philipp; Regensburger, Martin; Zunke, Friederike Share Save
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (Feb, 10.1038/s41431-024-01560-8, 2024) Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; Piard, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joel; Fagerberg, Christina; Andersen, Charlotte Brasch; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gerard, Benedicte; Fradin, Melanie; Vitobello, Antonio; Tenconi, Romano; Denomme-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A.; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C.; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M.; Ruaud, Lyse Share Save
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; Piard, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Samuel, Groeschel; Ramond, Francis; Fluss, Joel; Fagerberg, Christina; Andersen, Charlotte Brasch; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gerard, Benedicte; Fradin, Melanie; Vitobello, Antonio; Tenconi, Romano; Denomme-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A.; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Kruer, Michael C.; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M.; Ruaud, Lyse 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
Validation of GMFC-MLD scale as a measure of gross motor function in metachromatic leukodystrophy Mutua, Sylvia; Sevagamoorthy, Anjana; Gavazzi, Francesco; Thakur, Nivedita; Woidill, Sarah; Yu, Emily; Fumagalli, Francesca; Groeschel, Samuel; Bernard, Genevieve; Stutterd, Chloe; Kehrer, Christiane; Emrick, Lisa; Shults, Justine; Vanderver, Adeline; Adang, Laura A. Share Save
A phase 2 study assessing TAK-611150 mg intrathecal weekly in patients with late-infantile metachromatic leukodystrophy (SHP611-201; EMBOLDEN) compared to matched historical control data from children with late-infantile MLD (GLIA-MLD) Adang, Laura A.; Malanga, C. J.; Burton, Barbara K.; Giugliani, Roberto; Groeschel, Samuel; Inbar-Feigenberg, Michal; Sevin, Caroline; Riera, Mireia Del Toro; Yin, Shaoming; Rathmann, Suchitrita; Whiteman, David A. H.; Vanderver, Adeline Share Save
Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis Kern, Jan; Boehringer, Judith; Timmann, Dagmar; Trollmann, Regina; Stendel, Claudia; Kamm, Cristoph; Roebl, Markus; Santhanakumaran, Vidiyaah; Groeschel, Samuel; Beck-Woedl, Stefanie; Goericke, Sophia; Kraegeloh-Mann, Ingeborg; Synofzik, Matthis Share Save
Effects of sulfatide on peripheral nerves in metachromatic leukodystrophy Farah, Mohamed H.; Dali, Christine i; Groeschel, Samuel; Moldovan, Mihai; Whiteman, David A. H.; Malanga, C. J.; Kraegeloh-Mann, Ingeborg; Li, Jing; Barton, Norman; Krarup, Christian Share Save
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype?-Chances and challenges (vol 137, pg 273, 2022) Santhanakumaran, Vidiyaah; Groeschel, Samuel; Harzer, Klaus; Kehrer, Christiane; Elguen, Saskia; Beck-Woedl, Stefanie; Hengel, Holger; Schoels, Ludger; Haack, Tobias B.; Kraegeloh-Mann, Ingeborg; Laugwitz, Lucia Share Save
Developmental delay can precede neurologic regression in metachromatic leukodystrophy Adang, Laura A.; Groeschel, Samuel; Grzyb, Chloe; Eichler, Florian S.; Fraser, Jamie L.; Emrick, Lisa; Van Haren, Keith; Keller, Stephanie; Poe, Michele; Bernat, John; Bonkowsky, Joshua L.; Bernard, Genevieve; Stutterd, Chloe; Orchard, Paul J.; Gupta, Ashish; Ljungberg, Merete; Gronborg, Sabine; Fumagalli, Francesca; Elgun, Saskia; Kehrer, Christiane; Shults, Justine; Vanderver, Adeline; Escolar, Maria L. Share Save
Atidarsagene autotemcel, a European post-regulatory approval model for delivery of autologous hematopoietic stem cell gene therapy products via a network of qualified treatment centers (QTCs) Jones, Simon; Wynn, Robert; Fumagalli, Francesca; Calbi, Valeria; Aiuti, Alessandro; Groeschel, Samuel; Lindemans, Caroline; Sevin, Caroline; Dalle, Jean-Hugues; van Hasselt, Peter; Snell, Katie Share Save
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