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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
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
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
Leriglitazone halts disease progression in adult patients with early cerebral adrenoleukodystrophy Golse, Marianne; Weinhofer, Isabelle; Blanco, Bernardo; Barbier, Magali; Yazbeck, Elise; Huiban, Camille; Chaumette, Boris; Pichon, Bertrand; Fatemi, Ali; Pascual, Silvia; Martinell, Marc; Berger, Johannes; Perlbarg, Vincent; Galanaud, Damien; Mochel, Fanny Share Save
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Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach Adang, Laura Ann; Sevagamoorthy, Anjana; Sherbini, Omar; Fraser, Jamie L.; Bonkowsky, Joshua L.; Gavazzi, Francesco; D'Aiello, Russel; Modesti, Nicholson B.; Yu, Emily; Mutua, Sylvia; Kotes, Emma; Shults, Justine; Vincent, Ariel; Emrick, Lisa T.; Keller, Stephanie; Haren, Keith P. Van; Woidill, Sarah; Barcelos, Isabella; Pizzino, Amy; Schmidt, Johanna L.; Eichler, Florian; Fatemi, Ali; Vanderver, Adeline Share Save
De novo variants in DENND5B cause a neurodevelopmental disorder Scala, Marcello; Tomati, Valeria; Ferla, Matteo; Lena, Mariateresa; Cohen, Julie S.; Fatemi, Ali; Brokamp, Elly; Bican, Anna; Phillips III, John A.; Koziura, Mary E.; Nicouleau, Michael; Rio, Marlene; Siquier, Karine; Boddaert, Nathalie; Musante, Ilaria; Tamburro, Serena; Baldassari, Simona; Iacomino, Michele; Scudieri, Paolo; Rosenfeld, Jill A.; Bellus, Gary; Reed, Sara; Al Saif, Hind; Russo, Rossana Sanchez; Walsh, Matthew B.; Cantagrel, Vincent; Crunk, Amy; Gustincich, Stefano; Ruggiero, Sarah M.; Fitzgerald, Mark P.; Helbig, Ingo; Striano, Pasquale; Severino, Mariasavina; Salpietro, Vincenzo; Pedemonte, Nicoletta; Zara, Federico Share Save
Clinical and functional consequences of GRIA variants in patients with neurological diseases XiangWei, Wenshu; Perszyk, Riley E.; Liu, Nana; Xu, Yuchen; Bhattacharya, Subhrajit; Shaulsky, Gil H.; Smith-Hicks, Constance; Fatemi, Ali; Fry, Andrew E.; Chandler, Kate; Wang, Tao; Vogt, Julie; Cohen, Julie S.; Paciorkowski, Alex R.; Poduri, Annapurna; Zhang, Yuehua; Wang, Shuang; Wang, Yuping; Zhai, Qiongxiang; Fang, Fang; Leng, Jie; Garber, Kathryn; Myers, Scott J.; Jauss, Robin-Tobias; Park, Kristen L.; Benke, Timothy A.; Lemke, Johannes R.; Yuan, Hongjie; Jiang, Yuwu; Traynelis, Stephen F. Share Save
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Cation leak through the ATP1A3 pump causes spasticity and intellectual disability Calame, Daniel G.; Vadillo, Cristina Moreno; Berger, Seth; Lotze, Timothy; Shinawi, Marwan; Poupak, Javaher; Heller, Corina; Cohen, Julie; Person, Richard; Telegrafi, Aida; Phitsanuwong, Chalongchai; Fiala, Kaylene; Thiffault, Isabelle; Del Viso, Florencia; Zhou, Dihong; Fleming, Emily A.; Pastinen, Tomi; Fatemi, Ali; Thomas, Sruthi; Pascual, Samuel, I; Torres, Rosa J.; Prior, Carmen; Gomez-Gonzalez, Clara; Biskup, Saskia; Lupski, James R.; Maric, Dragan; Holmgren, Miguel; Regier, Debra; Yano, Sho T. Share Save
A Phase 1 Study of Oral Vitamin D3 in Boys and Young Men With X-Linked Adrenoleukodystrophy Van Haren, Keith P.; Cunanan, Kristen; Awani, Avni; Gu, Meng; Pena, Dalia; Chromik, Lindsay C.; Povazan, Michal; Rossi, Nicole C.; Goodman, Jordan; Sundaram, Vandana; Winterbottom, Jennifer; Raymond, Gerald, V; Cowan, Tina; Enns, Gregory M.; Waubant, Emmanuelle; Steinman, Lawrence; Barker, Peter B.; Spielman, Daniel; Fatemi, Ali Share Save
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International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy A Consensus-Based Approach Engelen, Marc; Van Ballegoij, Wouter J. C.; Mallack, Eric James; Van Haren, Keith P.; Kohler, Wolfgang; Salsano, Ettore; Van Trotsenburg, A. S. P.; Mochel, Fanny; Sevin, Caroline; Regelmann, Molly O.; Tritos, Nicholas A.; Halper, Alyssa; Lachmann, Robin H.; Davison, James; Raymond, Gerald V.; Lund, Troy C.; Orchard, Paul J.; Kuehl, Joern-Sven; Lindemans, Caroline A.; Caruso, Paul; Turk, Bela Rui; Moser, Ann B.; Vaz, Frederic M.; Ferdinandusse, Sacha; Kemp, Stephan; Fatemi, Ali; Eichler, Florian S.; Huffnagel, Irene C. Share Save
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