Not logged in Diagnostic yield of whole exome sequencing in a cohort of 825 patients Andersen, Peter Forster; Ek, Jakob; Karstensen, Helena Gasdal; Bak, Mads; Gronborg, Sabine Weller; Hove, Hanne Buciek; Diness, Birgitte; Hjortshoj, Tina Duelund; Hammer, Trine Bjorg; Hoi-Hansen, Christina; Schonewolf-Greulich, Bitten; Bisgaard, Anne-Marie; Duno, Morten; Ostergaard, Elsebet Share Save
Share Save
Share Save
Share Save
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
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
Share Save
X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease Nielsen, Malene Mejdahl; Petersen, Esben Thade; Fenger, Christina Duhring; Orngreen, Mette Cathrine; Siebner, Hartwig Roman; Boer, Vincent Oltman; Povaz, Michal; Lund, Allan; Gronborg, Sabine Weller; Hammer, Trine Bjorg Share Save
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature Peluso, Francesca; Caraffi, Stefano G.; Contro, Gianluca; Valeri, Lara; Napoli, Manuela; Carboni, Giorgia; Seth, Alka; Zuntini, Roberta; Coccia, Emanuele; Astrea, Guja; Bisgaard, Anne-Marie; Ivanovski, Ivan; Maitz, Silvia; Brischoux-Boucher, Elise; Carter, Melissa T.; Dentici, Maria Lisa; Devriendt, Koenraad; Bellini, Melissa; Digilio, Maria Cristina; Doja, Asif; Dyment, David A.; Farholt, Stense; Ferreira, Carlos R.; Wolfe, Lynne A.; Gahl, William A.; Gnazzo, Maria; Goel, Himanshu; Gronborg, Sabine Weller; Hammer, Trine; Iughetti, Lorenzo; Kleefstra, Tjitske; Koolen, David A.; Lepri, Francesca Romana; Lemire, Gabrielle; Louro, Pedro; McCullagh, Gary; Madeo, Simona F.; Milone, Annarita; Milone, Roberta; Nielsen, Jens Erik Klint; Novelli, Antonio; Ockeloen, Charlotte W.; Pascarella, Rosario; Pippucci, Tommaso; Ricca, Ivana; Robertson, Stephen P.; Sawyer, Sarah; Smeland, Marie Falkenberg; Stegmann, Sander; Stumpel, Constanze T.; Goel, Amy; Taylor, Juliet M.; Barbuti, Domenico; Soresina, Annarosa; Bedeschi, Maria Francesca; Battini, Roberta; Cavalli, Anna; Fusco, Carlo; Iascone, Maria; Van Maldergem, Lionel; Venkateswaran, Sunita; Zuffardi, Orsetta; Vergano, Samantha; Garavelli, Livia; Bayat, Allan Share Save
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease Amarasekera, Sumudu S. C.; Hock, Daniella H.; Lake, Nicole J.; Calvo, Sarah E.; Gronborg, Sabine W.; Krzesinski, Emma, I; Amor, David J.; Fahey, Michael C.; Simons, Cas; Wibrand, Flemming; Mootha, Vamsi K.; Lek, Monkol; Lunke, Sebastian; Stark, Zornitza; ostergaard, Elsebet; Christodoulou, John; Thorburn, David R.; Stroud, David A.; Compton, Alison G. 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
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement Kaiyrzhanov, Rauan; Mohammed, Sami E. M.; Maroofian, Reza; Husain, Ralf A.; Catania, Alessia; Torraco, Alessandra; Alahmad, Ahmad; Dutra-Clarke, Marina; Gronborg, Sabine; Sudarsanam, Annapurna; Vogt, Julie; Arrigoni, Filippo; Baptista, Julia; Haider, Shahzad; Feichtinger, Rene G.; Bernardi, Paolo; Zulian, Alessandra; Gusic, Mirjana; Efthymiou, Stephanie; Bai, Renkui; Bibi, Farah; Horga, Alejandro; Martinez-Agosto, Julian A.; Lam, Amanda; Manole, Andreea; Rodriguez, Diego-Perez; Durigon, Romina; Pyle, Angela; Albash, Buthaina; Dionisi-Vici, Carlo; Murphy, David; Martinelli, Diego; Bugiardini, Enrico; Allis, Katrina; Lamperti, Costanza; Reipert, Siegfried; Risom, Lotte; Laugwitz, Lucia; Di Nottia, Michela; McFarland, Robert; Vilarinho, Laura; Hanna, Michael; Prokisch, Holger; Mayr, Johannes A.; Bertini, Enrico Silvio; Ghezzi, Daniele; Ostergaard, Elsebet; Wortmann, Saskia B.; Carrozzo, Rosalba; Haack, Tobias B.; Taylor, Robert W.; Spinazzola, Antonella; Nowikovsky, Karin; Houlden, Henry Share Save
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy Tseng, Laura A.; Abdenur, Jose E.; Andrews, Ashley; Aziz, Verena G.; Bok, Levinus A.; Boyer, Monica; Buhas, Daniela; Hartmann, Hans; Footitt, Emma J.; Gronborg, Sabine; Janssen, Mirian C. H.; Longo, Nicola; Lunsing, Roelineke J.; MacKenzie, Alex E.; Wijburg, Frits A.; Gospe, Sidney M., Jr.; Coughlin, Curtis R., II; van Karnebeek, Clara D. M. 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
Persistent effect of arimoclomol in patients with Niemann-Pick disease type C: 24-month results from an open-label extension of a pivotal phase 2/3 study Patterson, Marc; Mengel, Eugen; Da Rio, Rosalia M.; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Harmatz, Paul; Heron, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Andreasen, Anne Katrine; Geist, Marie Aavang; Petersen, Nikolaj Havnsoe Torp; Ingemann, Linda; Hansen, Thomas; Blaettler, Thomas; Kirkegaard, Thomas; Dali, Christine I. Share Save
PURA-Related Developmental and Epileptic Encephalopathy Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P. W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amelie; Faivre, Laurence; Garde, Aurore; Moutton, Sebastien; Tran-Mau-Them, Frederic; Denomme-Pichon, Anne-Sophie; Coubes, Christine; Larson, Austin; Esser, Michael J.; Appendino, Juan Pablo; Al-Hertani, Walla; Gamboni, Beatriz; Mampel, Alejandra; Mayorga, Lia; Orsini, Alessandro; Bonuccelli, Alice; Suppiej, Agnese; Van-Gils, Julien; Vogt, Julie; Damioli, Simona; Giordano, Lucio; Moortgat, Stephanie; Wirrell, Elaine; Hicks, Sarah; Kini, Usha; Noble, Nathan; Stewart, Helen; Asakar, Shailesh; Cohen, Julie S.; Naidu, SakkuBai R.; Collier, Ashley; Brilstra, Eva H.; Li, Mindy H.; Brew, Casey; Bigoni, Stefania; Ognibene, Davide; Ballardini, Elisa; Ruivenkamp, Claudia; Faggioli, Raffaella; Afenjar, Alexandra; Rodriguez, Diana; Bick, David; Segal, Devorah; Coman, David; Gunning, Boudewijn; Devinsky, Orrin; Demmer, Laurie A.; Grebe, Theresa; Pruna, Dario; Cursio, Ida; Greenhalgh, Lynn; Graziano, Claudio; Singh, Rahul Raman; Cantalupo, Gaetano; Willems, Marjolaine; Yoganathan, Sangeetha; Goes, Fernanda; Leventer, Richard J.; Colavito, Davide; Olivotto, Sara; Scelsa, Barbara; Andrade, Andrea V.; Ratke, Kelly; Tokarz, Farha; Khan, Atiya S.; Ormieres, Clothilde; Benko, William; Keough, Karen; Keros, Sotirios; Hussain, Shanawaz; Franques, Ashlea; Varsalone, Felicia; Gronborg, Sabine; Mignot, Cyril; Heron, Delphine; Nava, Caroline; Isapof, Arnaud; Borlot, Felippe; Whitney, Robyn; Ronan, Anne; Foulds, Nicola; Somorai, Marta; Brandsema, John; Helbig, Katherine L.; Helbig, Ingo; Ortiz-Gonzalez, Xilma R.; Dubbs, Holly; Vitobello, Antonio; Anderson, Mel; Spadafore, Dominic; Hunt, David; Moller, Rikke S.; Rubboli, Guido Share Save
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications Johannesen, Katrine M.; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E.; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D.; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A.; Lauxmann, Stephan; Krueger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthova, Petra; Vlckova, Marketa; Lemke, Johannes R.; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P. Y. Billie; Rho, Jong M.; Ho, Alice W.; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E.; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S.; Braakman, Hilde M. H.; van der Zwaag, Bert; Harder, Aster V. E.; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Ngoc Minh Le; Christensen, Jakob; Gronborg, Sabine; Scherer, Stephen W.; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B.; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Benedicte; Matricardi, Sara; Bonardi, Claudia M.; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vollo, Arve; Motazacker, M. Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gelisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M. Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E.; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M.; Muller-Schluter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie-Cecile; Destree, Anne; Schoonjans, An-Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen-Hann; Olson, Heather E.; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L.; Helbig, Ingo; Fitzgerald, Mark P.; Goldberg, Ethan M.; Roser, Timo; Borggraefe, Ingo; Brunger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O.; Lesca, Gaetan; Hedrich, Ulrike B. S.; Benda, Jan; Gardella, Elena; Lerche, Holger; Moller, Rikke S. Share Save
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study (vol 15, 328, 2020) Mengel, Eugen; Bembi, Bruno; del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Heron, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Symonds, Tara; Hudgens, Stacie; Patterson, Marc C.; Guldberg, Christina; Ingemann, Linda; Petersen, Nikolaj H. T.; Kirkegaard, Thomas; Dali, Christine i Share Save
.png){kind=icon}
.png){kind=icon}
Not logged in.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
