The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1
Sánchez‐Lijarcio, Obdulia, Yubero, Delia, Leal, Fátima, Couce, María L., González Gutiérrez‐Solana, Luis, López‐Laso, Eduardo, García‐Cazorla, Àngels, Pías‐Peleteiro, Leticia, Azua Brea, Begoña, Ibáñez‐Micó, Salvador, Mateo‐Martínez, Gonzalo, Troncoso‐Schifferli, Monica, Witting‐Enriquez, Scarlet, Ugarte, Magdalena, Artuch, Rafael, Pérez, Belén
Published in Clinical genetics (01.07.2022)
Published in Clinical genetics (01.07.2022)
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Deep Brain Stimulation in Progressive Generalized Dystonia in Childhood Associated With ADAR1 Gene Variant
Munoz Chesta, Daniela, Troncoso Schifferli, Mónica, Hernandez Chavez, Marta, Ramirez Bruggink, Karla, Aguirre Padilla, David
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.09.2022)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.09.2022)
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Transitional Care for Young People with Movement Disorders: Consensus‐Based Recommendations from the MDS Task Force on Pediatrics
Pringsheim, Tamara, Batla, Amit, Shalash, Ali, Sahu, Jitendra Kumar, Cosentino, Carlos, Ebrahimi‐Fakhari, Darius, Friedman, Jennifer, Lin, Jean‐Pierre, Mink, Jonathan, Munchau, Alexander, Munoz, Daniela, Nardocci, Nardo, Perez‐Dueñas, Belen, Sardar, Zomer, Triki, Chahnez, Ben‐Pazi, Hilla, Silveira‐Moriyama, Laura, Troncoso‐Schifferli, Monica, Hoshino, Kyoko, Dale, Russell C., Fung, Victor S.C., Kurian, Manju A., Roze, Emmanuel
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.05.2023)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.05.2023)
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Childhood‐Onset Chorea Caused by a Recurrent De Novo DRD2 Variant
Mencacci, Niccolò E., Steel, Dora, Magrinelli, Francesca, Hsu, Jerry, Keller Sarmiento, Ignacio Juan, Troncoso Schifferli, Mónica, Muñoz, Daniela, Stefanis, Leonidas, Lubbe, Steven J., Wood, Nicholas W., Kurian, Manju A., Stamelou, Maria
Published in Movement disorders (01.06.2021)
Published in Movement disorders (01.06.2021)
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Corrigendum to “Classic and atypical late infantile neuronal ceroid lipofuscinosis in Latin America: Clinical and genetic aspects, and treatment outcome with cerliponase alfa.” [Molecular Genetics and Metabolism ReportsVolume 38 (2024) 101060]
Guelbert, Norberto, Espitia Segura, Oscar Mauricio, Amoretti, Carolina, Arteaga Arteaga, Angélica, Atanacio, Nora Graciela, Bazan, Natacha Sabrina, Fernandes Carvalho, Ellaine Doris, Fernandes Carvalho de Andrade, Maria Denise, Denzler, Inés María, Durand, Consuelo, Ribeiro, Erlane, Giugni, Juan Carlos, González, Gabriel, González Moron, Dolores, Guelbert, Guillermo, Hernández Rodriguez, Zulma Janneth, Emilia, Katiane Embiruçu, Kauffman, Marcelo Andrés, Mancilla, Nury Isabel, Marcon, Laureano, Marques Pereira, Alessandra, Fischinger Moura de Souza, Carolina, Muñoz, Victor Adrián, Naranjo Flórez, Ricardo Andrés, Pessoa, André Luiz, Ruiz, María Victoria, Solano Villareal, Martha Luz, Spécola, Norma, Tavera, Lina Marcela, Tello, Javiera, Troncoso Schifferli, Mónica, Ugrina, Sonia, Vaccarezza, María Magdalena, Vergara, Diane, Villanueva, María Mercedes
Published in Molecular genetics and metabolism reports (01.04.2024)
Published in Molecular genetics and metabolism reports (01.04.2024)
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