Not logged in Share Save
Share Save
Share Save
Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing Gonzalez, Carlos A. Dominguez; Spinner, Nancy B.; Ahrens-Nicklas, Rebecca C.; Young, Lisa R.; Voss, Laura A.; Reichert, Sara L.; Gallo, Daniel J.; Cohen, Julie S.; Bonkowsky, Joshua L.; Keller, Stephanie R.; Bennett, Mariko L.; Pizzino, Amy M.; Swantkowski, Meghan; Arnold, Kaley; Fraser, Jamie L.; Emerson, Felicity J.; Miettunen, Kelly; Fatemi, Ali; Haren, Keith P. Van; Adang, Laura; Waldman, Amy; Emrick, Lisa; Eichler, Florian; Vanderver, Adeline Share Save
Effective gene therapy for metachromatic leukodystrophy achieved with minimal lentiviral genomic integrations Tricoli, Lucas; Sase, Sunetra; Hacker, Julia L.; Pham, Vi; Chappell, Maxwell; Breda, Laura; Hurwitz, Stephanie N.; Tanaka, Naoto; Castracani, Carlo Castruccio; Guerra, Amaliris; Hou, Zhongqi; Schlotawa, Lars; Radhakrishnan, Karthikeyan; Hogenauer, Matthew; Roche, Aoife; Everett, John; Bushman, Frederic; Kurre, Peter; Ahrens-Nicklas, Rebecca; Adang, Laura A.; Vanderver, Adeline L.; Rivella, Stefano Share Save
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy Gavazzi, Francesco; Charsar, Brittany; Hamilton, Eline; Erler, Jacqueline A.; Patel, Virali; Woidill, Sarah; Sevagamoorthy, Anjana; Helman, Guy; Schmidt, Johanna; Pizzino, Amy; Muirhead, Kayla; Takanohashi, Asako; Bonkowsky, Joshua L.; Meyerhoffer, Kelsee; Simons, Cas; Doi, Hiroshi; Satoko, Miyatake; Matsumoto, Naomichi; Delgado, Mauricio R.; Sanchez-Castillo, Meredith; Wang, Jingming; de Carvalho, Daniel Rocha; Tournev, Ivailo; Chamova, Teodora; Jordanova, Albena; Clegg, Nancy J.; Nicita, Francesco; Bertini, Enrico; Teng, Michelle; Williams, Dan; Tonduti, Davide; Houlden, Henry; Stellingwerff, Menno; Wassmer, Evangeline; Garcia-Cazorla, Angeles; Bernard, Genevieve; Mirchi, Amytice; Toutounchi, Helia; Wolf, Nicole I.; van der Knaap, Marjo S.; Shults, Justine; Adang, Laura A.; Vanderver, Adeline L. Share Save
Share Save
Share Save
Share Save
Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series Pillai, Nishitha R.; Liu, Ning; Li, Xiyuan; Li, Xiqi; Ahrens-Nicklas, Rebecca; Adang, Laura; Eisengart, Julie B.; Bronken, Grace; Gupta, Ashish; Lund, Troy C.; Whitley, Chester B.; Elsea, Sarah H.; Orchard, Paul J. 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
Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency Pham, Vi; Tricoli, Lucas; Hong, Xinying; Wongkittichote, Parith; Castracani, Carlo Castruccio; Guerra, Amaliris; Schlotawa, Lars; Adang, Laura A.; Kuhs, Amanda; Cassidy, Margaret M.; Kane, Owen; Tsai, Emily; Presa, Maximiliano; Lutz, Cathleen; Rivella, Stefano B.; Ahrens-Nicklas, Rebecca C. Share Save
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy Kornbluh, Alexandra B.; Baldwin, Aaron; Fatemi, Ali; Vanderver, Adeline; Adang, Laura A.; Van Haren, Keith; Sampson, Jacinda; Eichler, Florian S.; Sadjadi, Reza; Engelen, Marc; Orthmann-Murphy, Jennifer L. Share Save
Framework for Multistakeholder Patient Registries in the Field of Rare Diseases Schoenmakers, Daphne H.; van den Berg, Sibren; Timmers, Lonneke; Adang, Laura A.; Baumer, Tobias; Bosch, Annet; van de Casteele, Marc; Datema, Mareen R.; Dekker, Hanka; Donnelly, Conan; Driessens, Mariette H. E.; Graessner, Holm; Greger, Valerie; Haddad, Tala; Hoglinger, Gunter U.; van den Hout, Hannerieke; Jonker, Carla; Langeveld, Mirjam; Lambert, Laurie J.; Neacy, Eileen; Nieuwland, Marc; Klockgether, Thomas; van der Knaap, Marjo S.; Papadopoulou, Andri; Plueschke, Kelly; van Rijn, Sanne; Rosenberg, Noa; Saunier-Vivar, Elise F.; Vieira, Bruna dos Santos; Hollak, Carla E. M.; Goettsch, Wim G.; Wolf, Nicole I. Share Save
Systemic complications of Aicardi Goutieres syndrome using real-world data de Barcelos, Isabella Peixoto; Jan, Amanda K.; Modesti, Nicholson; Woidill, Sarah; Gavazzi, Francesco; Isaacs, David; D'Aiello, Russell; Sevagamoorthy, Anjana; Charlton, Lauren; Pizzino, Amy; Schmidt, Johanna; van Haren, Keith; Keller, Stephanie; Eichler, Florian; Emrick, Lisa T.; Fraser, Jamie L.; Shults, Justine; Vanderver, Adeline; Adang, Laura A. Share Save
Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome Gavazzi, Francesco; Vaia, Ylenia; Woidill, Sarah; Formanowski, Brielle; de Barcelos, Isabella Peixoto; Sevagamoorthy, Anjana; Modesti, Nicholson B.; Charlton, Lauren; Cusack, Stacy V.; Vincent, Ariel; D'Aiello, Russell; Jawad, Abbas; Galli, Jessica; Varesio, Costanza; Fazzi, Elisa; Orcesi, Simona; Glanzman, Allan M.; Lorch, Scott; DeMauro, Sara B.; Guez-Barber, Danielle; Waldman, Amy T.; Vanderver, Adeline; Adang, Laura A. 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
IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies Adang, Laura A.; DAiello, Russell; Takanohashi, Asako; Woidill, Sarah; Gavazzi, Francesco; Behrens, Edward M.; Sullivan, Kathleen E.; Goldbach-Mansky, Raphaela; de Jesus, Adriana A.; Vanderver, Adeline; Shults, Justine Share Save
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}
