Works by Lupo, Vincenzo

Results: 22
    1

    Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells.

    Published in:
    Frontiers in Neuroscience, 2021, v. 15, p. N.PAG, doi. 10.3389/fnins.2021.636969
    By:
    • Arzalluz-Luque, Ángeles;
    • Cabrera, Jose Luis;
    • Skottman, Heli;
    • Benguria, Alberto;
    • Bolinches-Amorós, Arantxa;
    • Cuenca, Nicolás;
    • Lupo, Vincenzo;
    • Dopazo, Ana;
    • Tarazona, Sonia;
    • Delás, Bárbara;
    • Carballo, Miguel;
    • Pascual, Beatriz;
    • Hernan, Imma;
    • Erceg, Slaven;
    • Lukovic, Dunja
    Publication type:
    Article
    2
    3

    Congenital hypomyelinating neuropathy due to a novel MPZ mutation.

    Published in:
    Journal of the Peripheral Nervous System, 2011, v. 16, n. 4, p. 347, doi. 10.1111/j.1529-8027.2011.00369.x
    By:
    • Sevilla, Teresa;
    • Lupo, Vincenzo;
    • Sivera, Rafael;
    • Marco-Marín, Clara;
    • Martínez-Rubio, Dolores;
    • Rivas, Eloy;
    • Hernández, Arturo;
    • Palau, Francesc;
    • Espinós, Carmen
    Publication type:
    Article
    4

    Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.

    Published in:
    International Journal of Molecular Sciences, 2023, v. 24, n. 22, p. 16400, doi. 10.3390/ijms242216400
    By:
    • 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
    Publication type:
    Article
    5

    Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.

    Published in:
    International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2505, doi. 10.3390/ijms22052505
    By:
    • 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;
    • Lazzarino, Giuseppe
    Publication type:
    Article
    6

    Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.

    Published in:
    Journal of Neurology, 2024, v. 271, n. 2, p. 986, doi. 10.1007/s00415-023-12039-9
    By:
    • 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
    Publication type:
    Article
    7

    Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.

    Published in:
    Glia (0894-1491), 2013, v. 61, n. 7, p. 1041, doi. 10.1002/glia.22493
    By:
    • 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
    Publication type:
    Article
    8
    9
    10

    Charcot–Marie–Tooth disease due to MORC2 mutations in Spain.

    Published in:
    European Journal of Neurology, 2021, v. 28, n. 9, p. 3001, doi. 10.1111/ene.15001
    By:
    • Sivera, Rafael;
    • Lupo, Vincenzo;
    • Frasquet, Marina;
    • Argente‐Escrig, Herminia;
    • Alonso‐Pérez, Jorge;
    • Díaz‐Manera, Jordi;
    • Querol, Luis;
    • del Mar García‐Romero, María;
    • Ignacio Pascual, Samuel;
    • García‐Sobrino, Tania;
    • Paradas, Carmen;
    • Francisco Vázquez‐Costa, Juan;
    • Muelas, Nuria;
    • Millet, Elvira;
    • Jesús Vílchez, Juan;
    • Espinós, Carmen;
    • Sevilla, Teresa
    Publication type:
    Article
    11

    Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation.

    Published in:
    European Journal of Neurology, 2021, v. 28, n. 4, p. 1334, doi. 10.1111/ene.14700
    By:
    • 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
    Publication type:
    Article
    12
    13

    A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.

    Published in:
    Neuropathology & Applied Neurobiology, 2022, v. 48, n. 5, p. 1, doi. 10.1111/nan.12817
    By:
    • Argente‐Escrig, Herminia;
    • Vílchez, Juan J.;
    • Frasquet, Marina;
    • Muelas, Nuria;
    • Azorín, Inmaculada;
    • Vílchez, Roger;
    • Millet‐Sancho, Elvira;
    • Pitarch, Inmaculada;
    • Tomás‐Vila, Miguel;
    • Vázquez‐Costa, Juan F.;
    • Mas‐Estellés, Fernando;
    • Marco‐Marín, Clara;
    • Espinós, Carmen;
    • Serrano‐Lorenzo, Pablo;
    • Martin, Miguel A.;
    • Lupo, Vincenzo;
    • Sevilla, Teresa
    Publication type:
    Article
    14

    Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

    Published in:
    2016
    By:
    • 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
    Publication type:
    journal article
    15
    16

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

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 8, p. 1436, doi. 10.1002/acn3.51095
    By:
    • 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
    Publication type:
    Article
    17

    Complexity of the Hereditary Motor and Sensory Neuropathies.

    Published in:
    Journal of Child Neurology, 2015, v. 30, n. 11, p. 1544, doi. 10.1177/0883073815571049
    By:
    • Lupo, Vincenzo;
    • Pascual-Pascual, Samuel I.;
    • Sancho, Paula;
    • Calpena, Eduardo;
    • Gutiérrez-Molina, Manuel;
    • Mateo-Martínez, Gonzalo;
    • Espinós, Carmen;
    • Arriola-Pereda, Gema
    Publication type:
    Article
    18

    Cover Image, Volume 39, Issue 3.

    Published in:
    Human Mutation, 2018, v. 39, n. 3, p. i, doi. 10.1002/humu.23405
    By:
    • 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;
    • De Jonghe, Peter;
    • Baets, Jonathan;
    • Shy, Michael E.;
    • Espinós, Carmen;
    • Demeler, Borries;
    • Antonellis, Anthony;
    • Francklyn, Christopher
    Publication type:
    Article
    19

    Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy.

    Published in:
    Human Mutation, 2018, v. 39, n. 3, p. 415, doi. 10.1002/humu.23380
    By:
    • 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;
    • De Jonghe, Peter;
    • Baets, Jonathan;
    • Shy, Michael E.;
    • Espinós, Carmen;
    • Demeler, Borries;
    • Antonellis, Anthony;
    • Francklyn, Christopher
    Publication type:
    Article
    20

    Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 10, p. 1629, doi. 10.1093/hmg/ddz006
    By:
    • 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
    Publication type:
    Article
    21
    22