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A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema Bisseling, Quinty; Parker, Mark D.; Kerst, Sven; Pasternack, Richard A.; Tondreau, Jacob; Breur, Marjolein; van Rooijen-van Leeuwen, Gemma M.; Tonduti, Davide; Salsano, Ettore; Darling, Alejandra; van Wijk, Joanna A. E.; Tornroth-Horsefield, Susanna; Bugiani, Marianna; Pouwels, Petra J. W.; Waisfisz, Quinten; van der Knaap, Marjo S.; Min, Rogier Share Save
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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
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication Rodriguez-Gonzalez, Helena; Ormazabal, Aida; Casado, Mercedes; Arias, Angela Y.; Oliva, Clara; Barranco-Altirriba, Maria; Casadevall, Ricard; Garcia-Cuyas, Francesc; Nascimento, Andres; Ortez, Carlos; Natera-de Benito, Daniel; Armangue, Thais; O'Callaghan, Maria M.; Julia-Palacios, Natalia; Darling, Alejandra; Ortigoza-Escobar, Juan Dario; Fons, Carmen; Garcia-Cazorla, Angels; Perera-Lluna, Alexandre; Artuch, Rafael 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
Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia Pandolfo, Massimo; Reetz, Kathrin; Darling, Alejandra; de Rivera, Francisco Javier Rodriguez; Henry, Pierre-Gilles; Joers, James; Lenglet, Christophe; Adanyeguh, Isaac; Deelchand, Dinesh; Mochel, Fanny; Pousset, Francoise; Pascual, Silvia; Van den Eede, Delphine; Martin-Ugarte, Itziar; Vila-Brau, Anna; Mantilla, Adriana; Pascual, Maria; Martinell, Marc; Meya, Uwe; Durr, Alexandra Share Save
Assessing the landscape of STXBP1-related disorders in 534 individuals Xian, Julie; Parthasarathy, Shridhar; Ruggiero, Sarah M.; Balagura, Ganna; Fitch, Eryn; Helbig, Katherine; Gan, Jing; Ganesan, Shiva; Kaufman, Michael C.; Ellis, Colin A.; Lewis-Smith, David; Galer, Peter; Cunningham, Kristin; O'Brien, Margaret; Cosico, Mahgenn; Baker, Kate; Darling, Alejandra; de Goes, Fernanda Veiga; El Achkar, Christelle M.; Doering, Jan Henje; Furia, Francesca; Garcia-Cazorla, Angeles; Gardella, Elena; Geertjens, Lisa; Klein, Courtney; Kolesnik-Taylor, Anna; Lammertse, Hanna; Lee, Jeehun; Mackie, Alexandra; Misra-Isrie, Mala; Olson, Heather; Sexton, Emma; Sheidley, Beth; Smith, Lacey; Sotero, Luiza; Stamberger, Hannah; Syrbe, Steffen; Thalwitzer, Kim Marie; van Berkel, Annemiek; van Haelst, Mieke; Yuskaitis, Christopher; Weckhuysen, Sarah; Prosser, Ben; Rigby, Charlene Son; Demarest, Scott; Pierce, Samuel; Zhang, Yuehua; Moller, Rikke S.; Bruining, Hilgo; Poduri, Annapurna; Zara, Federico; Verhage, Matthijs; Striano, Pasquale; Helbig, Ingo Share Save
Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up Paredes-Fuentes, Abraham J.; Cesar, Sergi; Montero, Raquel; Latre, Cristina; Genoves, Jordi; Martorell, Loreto; Cuadras, Daniel; Colom, Helena; Pineda, Merce; del Mar O'Callaghan, Maria; Sarquella-Brugada, Georgia; Darling, Alejandra; Artuch, Rafael Share Save
Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness Darling, Alejandra; Irun, Pilar; Giraldo, Pilar; Armstrong, Judith; Gort, Laura; Diaz-Conradi, Alvaro; Yubero, Delia; De Oryazabal Sanz, Alfonso Luis; Ormazabal, Aida; Artuch, Rafael; Garcia-Cazorla, Angels; O'Callaghan, Mar Share Save
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect Correa-Vela, Marta; Lupo, Vincenzo; Montpeyo, Marta; Sancho, Paula; Marce-Grau, Anna; Hernandez-Vara, Jorge; Darling, Alejandra; Jenkins, Alison; Fernandez-Rodriguez, Sandra; Tello, Cristina; Ramirez-Jimenez, Laura; Perez, Belen; Sanchez-Montanez, Angel; Macaya, Alfons; Sobrido, Maria J.; Martinez-Vicente, Marta; Perez-Duenas, Belen; Espinos, Carmen Share Save
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression Darling, Alejandra; Aguilera-Albesa, Sergio; Aisha Tello, Cristina; Serrano, Mercedes; Tomas, Miguel; Camino-Leon, Rafael; Fernandez-Ramos, Joaquin; Jimenez-Escrig, Adriano; Poo, Pilar; O'Callaghan, Mar; Ortez, Carlos; Nascimento, Andres; Fernandez Mesaque, Ramon Candau; Madruga, Marcos; Arrabal, Luisa; Roldan, Susana; Gomez-Martin, Hilario; Garrido, Cristina; Temudo, Teresa; Jou-Munoz, Cristina; Muchart, Jordi; Huisman, Thierry A. G. M.; Poretti, Andrea; Lupo, Vincenzo; Espinos, Carmen; Perez-Duenas, Belen Share Save
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease Jou, Cristina; Ortigoza-Escobar, Juan D.; Ocallaghan, Maria M.; Nascimento, Andres; Darling, Alejandra; Pias-Peleteiro, Leticia; Perez-Duenas, Belen; Pineda, Mercedes; Codina, Anna; Arjona, Cesar; Armstrong, Judith; Palau, Francesc; Ribes, Antonia; Gort, Laura; Tort, Frederic; Navas, Placido; Ruiz-Pesini, Eduardo; Emperador, Sonia; Lopez-Gallardo, Ester; Bayona-Bafaluy, Pilar; Montero, Raquel; Jimenez-Mallebrera, Cecilia; Garcia-Cazorla, Angels; Montoya, Julio; Yubero, Delia; Artuch, Rafael Share Save
Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system Marti-Sanchez, L.; Ortigoza-Escobar, J. D.; Darling, A.; Villaronga, M.; Baide, H.; Molero-Luis, M.; Batllori, M.; Vanegas, M. I.; Muchart, J.; Aquino, L.; Artuch, R.; Macaya, A.; Kurian, M. A.; Duenas, Perez Share Save
Clinical Rating Scale for Pantothenate Kinase-Associated Neurodegeneration: A Pilot Study Darling, Alejandra; Tello, Cristina; Josep Marti, Maria; Garrido, Cristina; Aguilera-Albesa, Sergio; Tomas Vila, Miguel; Gaston, Itziar; Madruga, Marcos; Gonzalez Gutierrez, Luis; Ramos Lizana, Julio; Pujol, Montserrat; Gavilan Iglesias, Tania; Tustin, Kylee; Lin, Jean Pierre; Zorzi, Giovanna; Nardocci, Nardo; Martorell, Loreto; Lorenzo Sanz, Gustavo; Gutierrez, Fuencisla; Garcia, Pedro J.; Vela, Lidia; Hernandez Lahoz, Carlos; Ortigoza Escobar, Juan Dario; Marti Sanchez, Laura; Moreira, Fradique; Coelho, Miguel; Guedes, Leonor Correia; Caldas, Ana Castro; Ferreira, Joaquim; Pires, Paula; Costa, Cristina; Rego, Paulo; Magalhaes, Marina; Stamelou, Maria; Cuadras Palleja, Daniel; Rodriguez-Blazquez, Carmen; Martinez-Martin, Pablo; Lupo, Vincenzo; Stefanis, Leonidas; Pons, Roser; Espinos, Carmen; Temudo, Teresa; Perez Duenas, Belen Share Save
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