Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood
Baide-Mairena, Heidy, Gaudó, Paula, Marti-Sánchez, Laura, Emperador, Sonia, Sánchez-Montanez, Angel, Alonso-Luengo, Olga, Correa, Marta, Grau, Anna Marcè, Ortigoza-Escobar, Juan Darío, Artuch, Rafael, Vázquez, Elida, Del Toro, Mireia, Garrido-Pérez, Nuria, Ruiz-Pesini, Eduardo, Montoya, Julio, Bayona-Bafaluy, María Pilar, Pérez-Dueñas, Belén
Published in Molecular genetics and metabolism (01.03.2019)
Published in Molecular genetics and metabolism (01.03.2019)
Get full text
Journal Article
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)
Get full text
Journal Article
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
Salpietro, Vincenzo, Malintan, Nancy T., Llano-Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C., Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Salpietro, Vincenzo, Efthymiou, Stephanie, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Di Rosa, Gabriella, Pironti, Erica, Goraya, Jatinder S., Sultan, Tipu, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Ferrari, Michel D., Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Garavaglia, Barbara, Scuderi, Carmela, Borgione, Eugenia, Dipasquale, Valeria, Cutrupi, Maria Concetta, Portaro, Simona, Sanchez, Benigno Monteagudo, Pineda-Marfa’, Mercedes, Munell, Francina, Macaya, Alfons, Boles, Richard, Heimer, Gali, Papacostas, Savvas, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G., Rothman, James E., Kullmann, Dimitri M., Houlden, Henry, Bello, Oscar D., De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Sultan, Tipu, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E., Macaya, Alfons, Kullmann, Dimitri M., Rothman, James E., Krishnakumar, Shyam S., Houlden, Henry
Published in American journal of human genetics (04.04.2019)
Published in American journal of human genetics (04.04.2019)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
Journal Article
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene
Marti‐Sanchez, Laura, Baide‐Mairena, Heidy, Marcé‐Grau, Anna, Pons, Roser, Skouma, Anastasia, López‐Laso, Eduardo, Sigatullina, Maria, Rizzo, Cristiano, Semeraro, Michela, Martinelli, Diego, Carrozzo, Rosalba, Dionisi‐Vici, Carlo, González‐Gutiérrez‐Solana, Luis, Correa‐Vela, Marta, Ortigoza‐Escobar, Juan Dario, Sánchez‐Montañez, Ángel, Vazquez, Élida, Delgado, Ignacio, Aguilera‐Albesa, Sergio, Yoldi, María Eugenia, Ribes, Antonia, Tort, Frederic, Pollini, Luca, Galosi, Serena, Leuzzi, Vincenzo, Tolve, Manuela, Pérez‐Gay, Laura, Aldamiz‐Echevarría, Luis, Del Toro, Mireia, Arranz, Antonio, Roelens, Filip, Urreizti, Roser, Artuch, Rafael, Macaya, Alfons, Pérez‐Dueñas, Belén
Published in Journal of inherited metabolic disease (01.03.2021)
Published in Journal of inherited metabolic disease (01.03.2021)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
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)
Get full text
Journal Article