Clinical spectrum of BICD2 mutations von Frasquet, M., Camacho, A., Vílchez, R., Argente‐Escrig, H., Millet, E., Vázquez‐Costa, J. F., Silla, R., Sánchez‐Monteagudo, A., Vílchez, J. J., Espinós, C., Lupo, V., Sevilla, T.

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The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances von Monteagudo-Sánchez, A, Hernandez Mora, J. R, Simon, C, Burton, A, Tenorio, Jair, Lapunzina, Pablo, Clark, S, Esteller, M, Kelsey, G, López-Siguero, J. P, De Nanclares, G. P, Torres-Padilla, M. E, Monk, D, Universitat Autònoma de Barcelona

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Maternal mutations of FOXF1 cause Alveolar capillary dysplasia despite not being imprinted von Casanova, MA, Monteagudo-Sánchez, A, Guerineau, LR, Court, F, Serrano, IG, Martorell, L, Zurriaga, CR, Moore, GE, Ishida, M, Castañon, M, Calderon, EM, Monk, D, Hernando, JM

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Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation von Frasquet, Marina, Rojas‐García, Ricard, Argente‐Escrig, Herminia, Vázquez‐Costa, Juan Francisco, Muelas, Nuria, Vílchez, Juan Jesús, Sivera, Rafael, Millet, Elvira, Barreiro, Marisa, Díaz‐Manera, Jordi, Turon‐Sans, Janina, Cortés‐Vicente, Elena, Querol, Luis, Ramírez‐Jiménez, Laura, Martínez‐Rubio, Dolores, Sánchez‐Monteagudo, Ana, Espinós, Carmen, Sevilla, Teresa, Lupo, Vincenzo

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Genetics of Wilson disease and Wilson‐like phenotype in a clinical series from eastern Spain von Sánchez‐Monteagudo, Ana, Álvarez‐Sauco, María, Sastre, Isabel, Martínez‐Torres, Irene, Lupo, Vincenzo, Berenguer, Marina, Espinós, Carmen

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Copy number rather than epigenetic alterations are the major dictator of imprinted methylation in tumors von Martin-Trujillo, Alex, Vidal, Enrique, Monteagudo-Sánchez, Ana, Sanchez-Delgado, Marta, Moran, Sebastian, Hernandez Mora, Jose Ramon, Heyn, Holger, Guitart, Miriam, Esteller, Manel, Monk, David

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Wilson's Disease: Facing the Challenge of Diagnosing a Rare Disease von Sánchez-Monteagudo, Ana, Ripollés, Edna, Berenguer, Marina, Espinós, Carmen

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Fixed food eruption caused by Maja squinado (European spider crab) in a child von Gil‐Pallares, Pedro, Alvarez‐Garcia, Olaya, González‐Moure, Carlota, Castro‐Murga, Mónica, Monteagudo‐Sánchez, Benigno

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Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration von Sancho, Paula, Andrés-Bordería, Amparo, Gorría-Redondo, Nerea, Llano, Katia, Martínez-Rubio, Dolores, Yoldi-Petri, María Eugenia, Blumkin, Luba, Rodríguez de la Fuente, Pablo, Gil-Ortiz, Fernando, Fernández-Murga, Leonor, Sánchez-Monteagudo, Ana, Lupo, Vincenzo, Pérez-Dueñas, Belén, Espinós, Carmen, Aguilera-Albesa, Sergio

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A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4 von Argente-Escrig, Herminia, Sánchez-Monteagudo, Ana, Frasquet, Marina, Millet-Sancho, Elvira, Martínez-Rubio, Maria Dolores, Pitarch, Inmaculada, Tomás, Miguel, Espinós, Carmen, Lupo, Vincenzo, Sevilla, Teresa

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Profile of plasma microRNAs as a potential biomarker of Wilson’s disease von Sánchez-Monteagudo, Ana, Ripollés, Edna, Murillo, Oihana, Domènech, Sofia, Álvarez-Sauco, María, Girona, Eva, Sastre-Bataller, Isabel, Bono, Ariadna, García-Villarreal, Luis, Tugores, Antonio, García-García, Francisco, González-Aseguinolaza, Gloria, Berenguer, Marina, Espinós, Carmen

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Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity von García-Villarreal, Luis, Hernández-Ortega, Andrea, Sánchez-Monteagudo, Ana, Peña-Quintana, Luis, Ramírez-Lorenzo, Teresa, Riaño, Marta, Moreno-Pérez, Raquel, Monescillo, Alberto, González-Santana, Daniel, Quiñones, Ildefonso, Sánchez-Villegas, Almudena, Olmo-Quintana, Vicente, Garay-Sánchez, Paloma, Espinós, Carmen, González, Jesús M., Tugores, Antonio

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Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension von Pousada, Guillermo, Lupo, Vincenzo, Cástro-Sánchez, Sheila, Álvarez-Satta, María, Sánchez-Monteagudo, Ana, Baloira, Adolfo, Espinós, Carmen, Valverde, Diana

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Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted von Alsina Casanova, Miguel, Monteagudo‐Sánchez, Ana, Rodiguez Guerineau, Luciana, Court, Franck, Gazquez Serrano, Isabel, Martorell, Loreto, Rovira Zurriaga, Carlota, Moore, Gudrun E., Ishida, Miho, Castañon, Montserrat, Moliner Calderon, Elisenda, Monk, David, Moreno Hernando, Julio

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A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation von Sancho, Paula, Sánchez-Monteagudo, Ana, Collado, Antonio, Marco-Marín, Clara, Domínguez-González, Cristina, Camacho, Ana, Knecht, Erwin, Espinós, Carmen, Lupo, Vincenzo

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Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias von Martínez-Rubio, Dolores, Hinarejos, Isabel, Sancho, Paula, Gorría-Redondo, Nerea, Bernadó-Fonz, Raquel, Tello, Cristina, Marco-Marín, Clara, Martí-Carrera, Itxaso, Martínez-González, María Jesús, García-Ribes, Ainhoa, Baviera-Muñoz, Raquel, Sastre-Bataller, Isabel, Martínez-Torres, Irene, Duat-Rodríguez, Anna, Janeiro, Patrícia, Moreno, Esther, Pías-Peleteiro, Leticia, Gordo, Mar O’Callaghan, Ruiz-Gómez, Ángeles, Muñoz, Esteban, Martí, Maria Josep, Sánchez-Monteagudo, Ana, Fuster, Candela, Andrés-Bordería, Amparo, Pons, Roser Maria, Jesús-Maestre, Silvia, Mir, Pablo, Lupo, Vincenzo, Pérez-Dueñas, Belén, Darling, Alejandra, Aguilera-Albesa, Sergio, Espinós, Carmen

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Dermoscopy of Plantar Molluscum Contagiosum von Monteagudo Sánchez, B., León-Muiños, E., Piñeyro-Molina, F., Vázquez-Bueno, J.Á.

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Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients von Lafhal, Karima, Sabir, Es-said, Hakmaoui, Abdelmalek, Hammoud, Miloud, Aimrane, Abdelmohcine, Najeh, Samira, Assiri, Imane, Berrachid, Abdelaati, Imad, Najwa, Boujemaa, Chaima Ait, Aziz, Faissal, El Hanafi, Fatima Zahra, Lalaoui, Abdessamad, Aamri, Hasna, Boyko, Iryna, Sánchez-Monteagudo, Ana, Espinós, Carmen, Sab, Imane Ait, Aboussair, Nisrine, Bourrahouat, Aicha, Fdil, Naima

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

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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination von Efthymiou, Stephanie, Salpietro, Vincenzo, Malintan, Nancy, Poncelet, Mallory, Kriouile, Yamna, Fortuna, Sara, De Zorzi, Rita, Payne, Katelyn, Henderson, Lindsay B, Cortese, Andrea, Maddirevula, Sateesh, Alhashmi, Nadia, Wiethoff, Sarah, Ryten, Mina, Botia, Juan A, Provitera, Vincenzo, Schuelke, Markus, Vandrovcova, Jana, Walsh, Laurence, Torti, Erin, Iodice, Valeria, Najafi, Maryam, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Siquier-Pernet, Karine, Boddaert, Nathalie, De Lonlay, Pascale, Cantagrel, Vincent, Aguennouz, Mhammed, El Khorassani, Mohamed, Schmidts, Miriam, Alkuraya, Fowzan S, Edvardson, Simon, Nolano, Maria, Devaux, Jérôme, Houlden, Henry

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