Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies
Marcé‐Grau, Anna, Martí‐Sánchez, Laura, Baide‐Mairena, Heidy, Ortigoza‐Escobar, Juan D., Pérez‐Dueñas, Belén
Published in Journal of inherited metabolic disease (01.07.2019)
Published in Journal of inherited metabolic disease (01.07.2019)
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Journal Article
The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders
Pérez‐Dueñas, Belén, Gorman, Kathleen, Marcé‐Grau, Anna, Ortigoza‐Escobar, Juan D., Macaya, Alfons, Danti, Federica R., Barwick, Katy, Papandreou, Apostolos, Ng, Joanne, Meyer, Esther, Mohammad, Shekeeb S., Smith, Martin, Muntoni, Francesco, Munot, Pinki, Uusimaa, Johanna, Vieira, Päivi, Sheridan, Eammon, Guerrini, Renzo, Cobben, Jan, Yilmaz, Sanem, De Grandis, Elisa, Dale, Russell C., Pons, Roser, Peall, Kathryn J., Leuzzi, Vincenzo, Kurian, Manju A.
Published in Movement disorders (01.11.2022)
Published in Movement disorders (01.11.2022)
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Journal Article
PRKRA‐Related Disorders: Bilateral Striatal Degeneration in Addition to DYT16 Spectrum
Masnada, Silvia, Martinelli, Diego, Correa‐Vela, Marta, Agolini, Emanuele, Baide‐Mairena, Heidy, Marcé‐Grau, Anna, Parazzini, Cecilia, Veggiotti, Pierangelo, Perez‐Duenas, Belen, Tonduti, Davide
Published in Movement disorders (01.04.2021)
Published in Movement disorders (01.04.2021)
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Journal Article
De novo KCNA6 variants with attenuated KV1.6 channel deactivation in patients with epilepsy
Salpietro, Vincenzo, Galassi Deforie, Valentina, Efthymiou, Stephanie, O'Connor, Emer, Marcé‐Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M., Reich, Adi, Blevins, Amy, Sala‐Coromina, Júlia, Accogli, Andrea, Fortuna, Sara, Alesandrini, Marie, Au, P. Y. Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G., Macaya, Alfons, Kullmann, Dimitri M., Houlden, Henry, Männikkö, Roope
Published in Epilepsia (Copenhagen) (01.02.2023)
Published in Epilepsia (Copenhagen) (01.02.2023)
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Journal Article
Homomeric Kv7.2 current suppression is a common feature in KCNQ2 epileptic encephalopathy
Gomis‐Pérez, Carolina, Urrutia, Janire, Marcé‐Grau, Anna, Malo, Covadonga, López‐Laso, Eduardo, Felipe‐Rucián, Ana, Raspall‐Chaure, Miquel, Macaya, Alfons, Villarroel, Alvaro
Published in Epilepsia (Copenhagen) (01.01.2019)
Published in Epilepsia (Copenhagen) (01.01.2019)
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Journal Article
Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy
Marcé‐Grau, Anna, Elorza‐Vidal, Xabier, Pérez‐Rius, Carla, Ruiz‐Nel·lo, Anna, Sala‐Coromina, Júlia, Gabau, Elisabet, Estévez, Raúl, Macaya, Alfons
Published in Human mutation (01.10.2021)
Published in Human mutation (01.10.2021)
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Journal Article
Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1
Urbizu, Aintzane, Garrett, Melanie E, Soldano, Karen, Drechsel, Oliver, Loth, Dorothy, Marcé-Grau, Anna, Mestres I Soler, Olga, Poca, Maria A, Ossowski, Stephan, Macaya, Alfons, Loth, Francis, Labuda, Rick, Ashley-Koch, Allison
Published in PloS one (11.05.2021)
Published in PloS one (11.05.2021)
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Journal Article
Early recognition of SGCE‐myoclonus–dystonia in children
Correa‐Vela, Marta, Carvalho, Joao, Ferrero‐Turrion, Julia, Cazurro‐Gutiérrez, Ana, Vanegas, Maria, Gonzalez, Victoria, Alvárez, Ramiro, Marcé‐Grau, Anna, Moreno, Antonio, Macaya‐Ruiz, Alfons, Pérez‐Dueñas, Belén
Published in Developmental medicine and child neurology (01.02.2023)
Published in Developmental medicine and child neurology (01.02.2023)
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Journal Article
GRP94 Is Involved in the Lipid Phenotype of Brain Metastatic Cells
Santana-Codina, Naiara, Marcé-Grau, Anna, Muixí, Laia, Nieva, Claudia, Marro, Mónica, Sebastián, David, Muñoz, Juan Pablo, Zorzano, Antonio, Sierra, Angels
Published in International journal of molecular sciences (09.08.2019)
Published in International journal of molecular sciences (09.08.2019)
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Journal Article
Genetic diagnosis of basal ganglia disease in childhood
Baide‐Mairena, Heidy, Marti‐Sánchez, Laura, Marcé‐Grau, Anna, Cazurro‐Gutiérrez, Ana, Sanchez‐Montanez, Angel, Delgado, Ignacio, Moreno‐Galdó, Antonio, Macaya‐Ruiz, Alfons, García‐Arumí, Elena, Pérez‐Dueñas, Belén
Published in Developmental medicine and child neurology (01.06.2022)
Published in Developmental medicine and child neurology (01.06.2022)
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Journal Article
GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females
Marcé-Grau, Anna, Dalton, James, López-Pisón, Javier, García-Jiménez, María Concepción, Monge-Galindo, Lorena, Cuenca-León, Ester, Giraldo, Jesús, Macaya, Alfons
Published in Orphanet journal of rare diseases (12.04.2016)
Published in Orphanet journal of rare diseases (12.04.2016)
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Journal Article
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect
Correa‐Vela, Marta, Lupo, Vincenzo, Montpeyó, Marta, Sancho, Paula, Marcé‐Grau, Anna, Hernández‐Vara, Jorge, Darling, Alejandra, Jenkins, Alison, Fernández‐Rodríguez, Sandra, Tello, Cristina, Ramírez‐Jiménez, Laura, Pérez, Belén, Sánchez‐Montáñez, Ángel, Macaya, Alfons, Sobrido, María J., Martinez‐Vicente, Marta, Pérez‐Dueñas, Belén, Espinós, Carmen
Published in Annals of clinical and translational neurology (01.08.2020)
Published in Annals of clinical and translational neurology (01.08.2020)
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Journal Article
GRP94 promotes brain metastasis by engaging pro-survival autophagy
Santana-Codina, Naiara, Muixí, Laia, Foj, Ruben, Sanz-Pamplona, Rebeca, Badia-Villanueva, Miriam, Abramowicz, Agata, Marcé-Grau, Anna, Cosialls, Ana María, Gil, Joan, Archilla, Ivan, Pedrosa, Leire, Gonzalez, Josep, Aldecoa, Iban, Sierra, Angels
Published in Neuro-oncology (Charlottesville, Va.) (15.05.2020)
Published in Neuro-oncology (Charlottesville, Va.) (15.05.2020)
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Journal Article
Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation
Marcé-Grau, Anna, Correa, Marta, Vanegas, Maria Isabel, Muñoz-Ruiz, Teresa, Ferrer-Aparicio, Silvia, Baide, Heidy, Macaya, Alfons, Pérez-Dueñas, Belén
Published in Parkinsonism & related disorders (01.04.2019)
Published in Parkinsonism & related disorders (01.04.2019)
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Journal Article
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
Verdura, Edgard, Rodríguez-Palmero, Agustí, Vélez-Santamaria, Valentina, Planas-Serra, Laura, de la Calle, Irene, Raspall-Chaure, Miquel, Roubertie, Agathe, Benkirane, Mehdi, Saettini, Francesco, Pavinato, Lisa, Mandrile, Giorgia, O'Leary, Melanie, O'Heir, Emily, Barredo, Estibaliz, Chacón, Almudena, Michaud, Vincent, Goizet, Cyril, Ruiz, Montserrat, Schlüter, Agatha, Rouvet, Isabelle, Sala-Coromina, Julia, Fossati, Chiara, Iascone, Maria, Canonico, Francesco, Marcé-Grau, Anna, de Souza, Precilla, Adams, David R, Casasnovas, Carlos, Rehm, Heidi L, Mefford, Heather C, González Gutierrez-Solana, Luis, Brusco, Alfredo, Koenig, Michel, Macaya, Alfons, Pujol, Aurora
Published in Brain (London, England : 1878) (22.10.2021)
Published in Brain (London, England : 1878) (22.10.2021)
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Journal Article
De novo KCNA6 variants with attenuated K V 1.6 channel deactivation in patients with epilepsy
Salpietro, Vincenzo, Galassi Deforie, Valentina, Efthymiou, Stephanie, O'Connor, Emer, Marcé-Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M, Reich, Adi, Blevins, Amy, Sala-Coromina, Júlia, Accogli, Andrea, Fortuna, Sara, Alesandrini, Marie, Au, P Y Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G, Macaya, Alfons, Kullmann, Dimitri M, Houlden, Henry, Männikkö, Roope
Published in Epilepsia (Copenhagen) (01.02.2023)
Published in Epilepsia (Copenhagen) (01.02.2023)
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Journal Article
De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy
Salpietro, Vincenzo, Galassi Deforie, Valentina, Efthymiou, Stephanie, O'Connor, Emer, Marcé-Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M, Reich, Adi, Blevins, Amy, Sala-Coromina, Júlia, Accogli, Andrea, tuna, Sara, Alesandrini, Marie, Au, P Y Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G, Macaya, Alfons, Kullmann, Dimitri M, Houlden, Henry, Männikkö, Roope
Published in Epilepsia (Copenhagen) (01.02.2023)
Published in Epilepsia (Copenhagen) (01.02.2023)
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Journal Article
ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene
Cazurro-Gutiérrez, Ana, Marcé-Grau, Anna, Correa-Vela, Marta, Salazar, Ainara, Vanegas, María I., Macaya, Alfons, Bayés, Àlex, Pérez-Dueñas, Belén
Published in Molecular neurobiology (01.08.2021)
Published in Molecular neurobiology (01.08.2021)
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Journal Article
The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center
Zouvelou, Vasiliki, Yubero, Delia, Apostolakopoulou, Loukia, Kokkinou, Eleftheria, Bilanakis, Manolis, Dalivigka, Zoi, Nikas, Ioannis, Kollia, Elissavet, Perez-Dueñas, Belen, Macaya, Alfons, Marcé-Grau, Anna, Voutetakis, Antonis, Anagnostopoulou, Katerina, Kekou, Kiriaki, Sofocleus, Christalena, Veltra, Danae, Kokkinis, Xaralabos, Fryssira, Helen, Torres, Rosa J., Amstrong, Judith, Santorelli, Filippo M., Artuch, Rafael, Pons, Roser
Published in European journal of paediatric neurology (01.05.2019)
Published in European journal of paediatric neurology (01.05.2019)
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Journal Article
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome
Vanegas, Maria I., Marcé-Grau, Anna, Martí-Sánchez, Laura, Mellid, Sara, Baide-Mairena, Heidy, Correa-Vela, Marta, Cazurro, Anna, Rodríguez, Carla, Toledo, Laura, Fernández-Ramos, Joaquín Alejandro, Pons, Roser, Aguilera-Albesa, Sergio, Martí, Maria José, Eiris, Jesús, Iglesias, Gema, De Fabregues, Oriol, Maqueda, Elena, Garriz-Luis, Maite, Madruga, Marcos, Espinós, Carmen, Macaya, Alfons, Cabrera, José Carlos, Pérez-Dueñas, Belén
Published in Parkinsonism & related disorders (01.11.2020)
Published in Parkinsonism & related disorders (01.11.2020)
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Journal Article