Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations von Sancho, Paula, Bartesaghi, Luca, Miossec, Olivia, García-García, Francisco, Ramírez-Jiménez, Laura, Siddell, Anna, Åkesson, Elisabet, Hedlund, Eva, Laššuthová, Petra, Pascual-Pascual, Samuel I, Sevilla, Teresa, Kennerson, Marina, Lupo, Vincenzo, Chrast, Roman, Espinós, Carmen

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Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease von Pla-Martín, David, Calpena, Eduardo, Lupo, Vincenzo, Márquez, Celedonio, Rivas, Eloy, Sivera, Rafael, Sevilla, Teresa, Palau, Francesc, Espinós, Carmen

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Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy von Martínez-Rubio, Dolores, Hinarejos, Isabel, Argente-Escrig, Herminia, Marco-Marín, Clara, Lozano, María Ana, Gorría-Redondo, Nerea, Lupo, Vincenzo, Martí-Carrera, Itxaso, Miranda, Concepción, Vázquez-López, María, García-Pérez, Asunción, Marco-Hernández, Ana Victoria, Tomás-Vila, Miguel, Aguilera-Albesa, Sergio, Espinós, Carmen

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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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Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells von Arzalluz-Luque, Angeles, Luis Cabrera, Jose, Skottman, Heli, Benguria, Alberto, Bolinches-Amoros, Arantxa, Cuenca, Nicolas, Lupo, Vincenzo, Dopazo, Ana, Tarazona, Sonia, Delas, Barbara, Carballo, Miguel, Pascual, Beatriz, Hernan, Imma, Erceg, Slaven, Lukovic, Dunja

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Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy von Abbott, Jamie A., Meyer‐Schuman, Rebecca, Lupo, Vincenzo, Feely, Shawna, Mademan, Inès, Oprescu, Stephanie N., Griffin, Laurie B., Alberti, M. Antonia, Casasnovas, Carlos, Aharoni, Sharon, Basel‐Vanagaite, Lina, Züchner, Stephan, Jonghe, Peter, Baets, Jonathan, Shy, Michael E., Espinós, Carmen, Demeler, Borries, Antonellis, Anthony, Francklyn, Christopher

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Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy von Lupo, Vincenzo, García-García, Francisco, Sancho, Paula, Tello, Cristina, García-Romero, Mar, Villarreal, Liliana, Alberti, Antonia, Sivera, Rafael, Dopazo, Joaquín, Pascual-Pascual, Samuel I, Márquez-Infante, Celedonio, Casasnovas, Carlos, Sevilla, Teresa, Espinós, Carmen

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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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Expanding the beta-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration von Sancho, Paula, Andres-Borderia, Amparo, Gorria-Redondo, Nerea, Llano, Katia, Martinez-Rubio, Dolores, Yoldi-Petri, Maria Eugenia, Blumkin, Luba, Rodriguez de la Fuente, Pablo, Gil-Ortiz, Fernando, Fernandez-Murga, Leonor, Sanchez-Monteagudo, Ana, Lupo, Vincenzo, Perez-Duenas, Belen, Espinos, Carmen, Aguilera-Albesa, Sergio

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Chaperonopathies: Spotlight on Hereditary Motor Neuropathies von Lupo, Vincenzo, Aguado, Carmen, Knecht, Erwin, Espinós, Carmen

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Sh3tc2 deficiency affects neuregulin-1/ErbB signaling von Gouttenoire, Estelle Arnaud, Lupo, Vincenzo, Calpena, Eduardo, Bartesaghi, Luca, Schüpfer, Fanny, Médard, Jean-Jacques, Maurer, Fabienne, Beckmann, Jacques S., Senderek, Jan, Palau, Francesc, Espinós, Carmen, Chrast, Roman

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Conservative treatments for feline fibroadenomatous changes of the mammary gland von Marino, Gabriele, Pugliese, Michela, Pecchia, Fabiana, Garufi, Giuseppe, Lupo, Vincenzo, Di Giorgio, Stefania, Sfacteria, Alessandra

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Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center von Argente‐Escrig, Herminia, Frasquet, Marina, Vázquez‐Costa, Juan Francisco, Millet‐Sancho, Elvira, Pitarch, Inmaculada, Tomás‐Vila, Miguel, Espinós, Carmen, Lupo, Vincenzo, Sevilla, Teresa

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

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Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease von Sevilla, Teresa, Lupo, Vincenzo, Martínez-Rubio, Dolores, Sancho, Paula, Sivera, Rafael, Chumillas, María J, García-Romero, Mar, Pascual-Pascual, Samuel I, Muelas, Nuria, Dopazo, Joaquín, Vílchez, Juan J, Palau, Francesc, Espinós, Carmen

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ITPR3‐associated neuropathy: Report of a further family with adult onset intermediate Charcot–Marie–Tooth disease von Cabello‐Murgui, Javier, Jiménez‐Jiménez, Jesús, Vílchez, Juan J, Azorín, Inmaculada, Martí‐Martínez, Pilar, Millet, Elvira, Lupo, Vincenzo, Sevilla, Teresa, Sivera, Rafael

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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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Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3 von de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Lupo, Vincenzo, Bermejo-Guerrero, Laura, Martín-Jiménez, Paloma, Hernández-Laín, Aurelio, Olivé, Montse, Gallardo, Eduard, Esteban-Pérez, Jesús, Espinós, Carmen, Domínguez-González, Cristina

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Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene von Frasquet, Marina, Lupo, Vincenzo, Chumillas, María José, Vázquez-Costa, Juan Francisco, Espinós, Carmen, Sevilla, Teresa

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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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