Galloping tongue syndrome in a PRRT2 mutation carrier

por Vilas, Dolores, Marcé-Grau, Anna, Macaya, Alfons, Valls-Solé, Josep, Tolosa, Eduard
Publicado 2019

GRP94 Is Involved in the Lipid Phenotype of Brain Metastatic Cells

por Santana-Codina, Naiara, Marcé-Grau, Anna, Muixí, Laia, Nieva, Claudia, Marro, Mónica, Sebastián, David, Muñoz, Juan Pablo, Zorzano, Antonio, Sierra, Angels
Publicado 2019

GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females

por Marcé-Grau, Anna, Dalton, James, López-Pisón, Javier, García-Jiménez, María Concepción, Monge-Galindo, Lorena, Cuenca-León, Ester, Giraldo, Jesús, Macaya, Alfons
Publicado 2016

A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of Ca(V)2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca(2+) Influx

por Bahamonde, Maria Isabel, Serra, Selma Angèlica, Drechsel, Oliver, Rahman, Rubayte, Marcé-Grau, Anna, Prieto, Marta, Ossowski, Stephan, Macaya, Alfons, Fernández-Fernández, José M.
Publicado 2015

Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1

por 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
Publicado 2021

Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

por 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
Publicado 2020

De novo KCNA6 variants with attenuated K(V) 1.6 channel deactivation in patients with epilepsy

por 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
Publicado 2022

The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders

por 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.
Publicado 2022

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

por 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, 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
Publicado 2019

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

por 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
Publicado 2021