Found: 17

Select item for more details and to access through your institution.

  • Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.

    Published in:
    2012
    By:
    • Juan-Mateu, Jonàs;
    • Rodríguez, Maria José;
    • Nascimento, Andrés;
    • Jiménez-Mallebrera, Cecilia;
    • González-Quereda, Lidia;
    • Rivas, Eloy;
    • Paradas, Carmen;
    • Madruga, Marcos;
    • Sánchez-Ayaso, Pedro;
    • Jou, Cristina;
    • González-Mera, Laura;
    • Munell, Francina;
    • Roig-Quilis, Manuel;
    • Rabasa, Maria;
    • Hernández-Lain, Aurelio;
    • Díaz-Manera, Jorge;
    • Gallardo, Eduard;
    • Pascual, Jordi;
    • Verdura, Edgard;
    • Colomer, Jaume
    Publication type:
    journal article

  • Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.

    Published in:
    Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 82, doi. 10.1186/1750-1172-7-82
    By:
    • Juan-Mateu, Jonàs;
    • Rodríguez, Maria José;
    • Nascimento, Andrés;
    • Jiménez-Mallebrera, Celilia;
    • González-Quereda, Lidia;
    • Rivas, Eloy;
    • Paradas, Carmen;
    • Madruga, Marcos;
    • Sánchez-Ayaso, Pedro;
    • Jou, Cristina;
    • González-Mera, Jorge;
    • Munell, Francina;
    • Roig-Quilis, Manuel;
    • Rabasa, Maria;
    • Hernández-Lain, Aurelio;
    • Díaz-Manera, Jorge;
    • Gallardo, Eduard;
    • Pascual, Jordi;
    • Verdura, Edgard;
    • Colomer, Jaume
    Publication type:
    Article

  • Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.

    Published in:
    2022
    By:
    • Guasto, Alessandra;
    • Dubail, Johanne;
    • Aguilera-Albesa, Sergio;
    • Paganini, Chiara;
    • Vanhulle, Catherine;
    • Haouari, Walid;
    • Gorría-Redondo, Nerea;
    • Aznal-Sainz, Elena;
    • Boddaert, Nathalie;
    • Planas-Serra, Laura;
    • Schlüter, Agatha;
    • Vélez-Santamaría, Valentina;
    • Verdura, Edgard;
    • Bruneel, Arnaud;
    • Rossi, Antonio;
    • Huber, Céline;
    • Pujol, Aurora;
    • Cormier-Daire, Valérie
    Publication type:
    journal article

  • Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

    Published in:
    2021
    By:
    • 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
    Publication type:
    journal article

  • Expanding the clinical and genetic spectrum of PCYT2-related disorders.

    Published in:
    2020
    By:
    • Vélez-Santamaría, Valentina;
    • Verdura, Edgard;
    • Macmurdo, Colleen;
    • Planas-Serra, Laura;
    • Schlüter, Agatha;
    • Casas, Josefina;
    • Martínez, Juan José;
    • Casasnovas, Carlos;
    • Si, Yue;
    • Thompson, Stephanie S;
    • Maroofian, Reza;
    • Pujol, Aurora
    Publication type:
    Letter

  • Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.

    Published in:
    2015
    By:
    • Verdura, Edgard;
    • Hervé, Dominique;
    • Scharrer, Eva;
    • del Mar Amador, Maria;
    • Guyant-Maréchal, Lucie;
    • Philippi, Anne;
    • Corlobé, Astrid;
    • Bergametti, Francoise;
    • Gazal, Steven;
    • Prieto-Morin, Carol;
    • Beaufort, Nathalie;
    • Le Bail, Benoit;
    • Viakhireva, Irina;
    • Dichgans, Martin;
    • Chabriat, Hugues;
    • Haffner, Christof;
    • Tournier-Lasserve, Elisabeth;
    • Amador, Maria Del Mar;
    • Bergametti, Françoise
    Publication type:
    journal article

  • Heterogeneity in Fragile X Syndrome Highlights the Need for Precision Medicine-Based Treatments.

    Published in:
    Frontiers in Psychiatry, 2021, v. 12, p. 1, doi. 10.3389/fpsyt.2021.722378
    By:
    • Verdura, Edgard;
    • Pérez-Cano, Laura;
    • Sabido-Vera, Rubén;
    • Guney, Emre;
    • Hyvelin, Jean-Marc;
    • Durham, Lynn;
    • Gomez-Mancilla, Baltazar
    Publication type:
    Article

  • ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01214-2
    By:
    • Schlüter, Agatha;
    • Vélez-Santamaría, Valentina;
    • Verdura, Edgard;
    • Rodríguez-Palmero, Agustí;
    • Ruiz, Montserrat;
    • Fourcade, Stéphane;
    • Planas-Serra, Laura;
    • Launay, Nathalie;
    • Guilera, Cristina;
    • Martínez, Juan José;
    • Homedes-Pedret, Christian;
    • Albertí-Aguiló, M. Antonia;
    • Zulaika, Miren;
    • Martí, Itxaso;
    • Troncoso, Mónica;
    • Tomás-Vila, Miguel;
    • Bullich, Gemma;
    • García-Pérez, M. Asunción;
    • Sobrido-Gómez, María-Jesús;
    • López-Laso, Eduardo
    Publication type:
    Article

  • DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations.

    Published in:
    PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0135189
    By:
    • Juan-Mateu, Jonas;
    • Gonzalez-Quereda, Lidia;
    • Rodriguez, Maria Jose;
    • Baena, Manel;
    • Verdura, Edgard;
    • Nascimento, Andres;
    • Ortez, Carlos;
    • Baiget, Montserrat;
    • Gallano, Pia
    Publication type:
    Article

  • Interplay between <i>DMD</i> Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes.

    Published in:
    PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0059916
    By:
    • Juan-Mateu, Jonàs;
    • González-Quereda, Lidia;
    • Rodríguez, Maria José;
    • Verdura, Edgard;
    • Lázaro, Kira;
    • Jou, Cristina;
    • Nascimento, Andrés;
    • Jiménez-Mallebrera, Cecilia;
    • Colomer, Jaume;
    • Monges, Soledad;
    • Lubieniecki, Fabiana;
    • Foncuberta, Maria Eugenia;
    • Pascual-Pascual, Samuel Ignacio;
    • Molano, Jesús;
    • Baiget, Montserrat;
    • Gallano, Pia
    Publication type:
    Article

  • A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 9, p. 1574, doi. 10.1002/acn3.51131
    By:
    • Rodríguez‐Palmero, Agustí;
    • Schlüter, Agatha;
    • Verdura, Edgard;
    • Ruiz, Montserrat;
    • Martínez, Juan José;
    • Gourlaouen, Isabelle;
    • Ka, Chandran;
    • Lobato, Ricardo;
    • Casasnovas, Carlos;
    • Le Gac, Gérald;
    • Fourcade, Stéphane;
    • Pujol, Aurora
    Publication type:
    Article

  • A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 105, doi. 10.1002/acn3.50967
    By:
    • Verdura, Edgard;
    • Schlüter, Agatha;
    • Fernández‐Eulate, Gorka;
    • Ramos‐Martín, Raquel;
    • Zulaica, Miren;
    • Planas‐Serra, Laura;
    • Ruiz, Montserrat;
    • Fourcade, Stéphane;
    • Casasnovas, Carlos;
    • López de Munain, Adolfo;
    • Pujol, Aurora
    Publication type:
    Article

  • End‐Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy.

    Published in:
    Annals of Neurology, 2021, v. 90, n. 6, p. 962, doi. 10.1002/ana.26242
    By:
    • Aloui, Chaker;
    • Hervé, Dominique;
    • Marenne, Gaelle;
    • Savenier, Florian;
    • Le Guennec, Kilan;
    • Bergametti, Francoise;
    • Verdura, Edgard;
    • Ludwig, Thomas E.;
    • Lebenberg, Jessica;
    • Jabeur, Waliyde;
    • Morel, Hélène;
    • Coste, Thibault;
    • Demarquay, Geneviève;
    • Bachoumas, Panagiotis;
    • Cogez, Julien;
    • Mathey, Guillaume;
    • Bernard, Emilien;
    • Chabriat, Hugues;
    • Génin, Emmanuelle;
    • Tournier‐Lasserve, Elisabeth
    Publication type:
    Article

  • Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.

    Published in:
    2016
    By:
    • Verdura, Edgard;
    • Hervé, Dominique;
    • Bergametti, Françoise;
    • Jacquet, Clémence;
    • Morvan, Typhaine;
    • Prieto‐Morin, Carol;
    • Mackowiak, Alexandre;
    • Manchon, Eric;
    • Hosseini, Hassan;
    • Cordonnier, Charlotte;
    • Girard‐Buttaz, Isabelle;
    • Rosenstingl, Sophie;
    • Hagel, Christian;
    • Kuhlenbaümer, Gregor;
    • Leca‐Radu, Elena;
    • Goux, Didier;
    • Fleming, Lauren;
    • Agtmael, Tom;
    • Chabriat, Hugues;
    • Chapon, Françoise
    Publication type:
    journal article

  • Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation.

    Published in:
    Movement Disorders, 2024, v. 39, n. 9, p. 1578, doi. 10.1002/mds.29881
    By:
    • Lasa‐Aranzasti, Amaia;
    • Larasati, Yonika A.;
    • da Silva Cardoso, Juliana;
    • Solis, Gonzalo P.;
    • Koval, Alexey;
    • Cazurro‐Gutiérrez, Ana;
    • Ortigoza‐Escobar, Juan Dario;
    • Miranda, Maria Concepción;
    • De la Casa‐Fages, Beatriz;
    • Moreno‐Galdó, Antonio;
    • Tizzano, Eduardo F.;
    • Gómez‐Andrés, David;
    • Verdura, Edgard;
    • Katanaev, Vladimir L.;
    • Pérez‐Dueñas, Belén;
    • Cancho Candela, Ramón;
    • Martinez, Jorge Pantoja;
    • Cáceres‐Marzal, Cristina;
    • Martí Carrera, Itxaso;
    • Duat‐Rodriguez, Ana
    Publication type:
    Article

  • Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1‐Related Syndrome.

    Published in:
    Movement Disorders, 2024, v. 39, n. 7, p. 1246, doi. 10.1002/mds.29885
    By:
    • Albajar, Ines;
    • Iruzubieta, Pablo;
    • Barandiaran, Myriam;
    • Alves, Patricia;
    • Pujol, Aurora;
    • Verdura, Edgard;
    • Equiza, Jon;
    • Urreta, Iratxe;
    • Ruiz‐Martínez, Javier;
    • Maneiro, Miren;
    • Fernandez‐Torron, Roberto;
    • Poza, Juan Jose;
    • Mondragón, Elisabet;
    • de Munain, Adolfo Lopez
    Publication type:
    Article

  • Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.

    Published in:
    Acta Neuropathologica, 2020, v. 140, n. 6, p. 971, doi. 10.1007/s00401-020-02223-w
    By:
    • García-Cazorla, Àngels;
    • Verdura, Edgard;
    • Juliá-Palacios, Natalia;
    • Anderson, Eric N.;
    • Goicoechea, Leire;
    • Planas-Serra, Laura;
    • Tsogtbaatar, Enkhtuul;
    • Dsouza, Nikita R.;
    • Schlüter, Agatha;
    • Urreizti, Roser;
    • Tarnowski, Jessica M.;
    • Gavrilova, Ralitza H.;
    • SHMT2 Working Group;
    • Oyarzábal, Alfonso;
    • Medina, Inés;
    • Ormazábal, Aida;
    • Muchart, Jordi;
    • Carretero, Juan Manuel;
    • Jou, Cristina;
    • del Toro, Mireia
    Publication type:
    Article