Investigación

Neurogenética y Medicina Molecular

Buscador de publicaciones

Publicaciones

  • Pérez-Vidarte F, Estévez-Arias B, Matalonga L, Yubero-Siles D, Codina-Bergadà A, Ortez-Gonzalez CI, Medina J, De Sena-De Cabo L, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Tizzano E, Nascimento-Osorio A and Natera-de Benito D.

    Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

    Annals of Clinical and Translational Neurology . 12(8): 1528-1547.

    [doi:10.1002/acn3.70088]

  • Felipe, DF, Casas-Alba D, Sadok, SH, Fernández-Pérez MT, Vega-Hanna, L, Plaza, L, Vicente-Villa MA, Armstrong-Moron J, Guillén-Navarro, E and Martinez-Monseny T.

    Unveiling the Spectrum: Clinical and Molecular Insights from a Spanish Pediatric Cohort with Hypermobility Disorders and Ehlers-Danlos Syndrome

    GENES . 16(8): .

    [doi:10.3390/genes16080925]

  • Saffie-Awad P, Grant SM, Makarious MB, Elsayed I, Sanyaolu AO, Crea PW, Schumacher Schuh AF, Levine KS, Vitale D, Koretsky MJ, Kim J, Peixoto Leal T, Periñán MT, Dey S, Noyce AJ, Reyes-Palomares A, Rodriguez-Losada N, Foo JN, Mohamed W, Heilbron K, Norcliffe-Kaufmann L, Rizig M, Okubadejo N, Nalls MA, Blauwendraat C, Singleton A, Leonard H, Mata IF and Bandres-Ciga S.

    Insights into ancestral diversity in Parkinson's disease risk: a comparative assessment of polygenic risk scores.

    npj Parkinsons Disease . 11(1): 201-201. Nº de citas: 1

    [doi:10.1038/s41531-025-00967-4]

  • CastilloSD, Perosanz X, Ressler AK, Ivars M, Rodriguez J, Rovira-Zurriaga C, Nola EM, Llena J, Grego-Bessa J, Roldan-Molina M, Arnau R, Martínez-Romero A, Barber-Martínez de la Torre I, Miguel Bejarano Serrano, Vicente-Villa MA, Celis-Passini V, Salvador-Hernandez H, Mora J, Marchuk DA, Baselga E and Graupera M.

    Somatic Uniparental Disomy of PTEN in Endothelial Cells Causes Vascular Malformations in Patients with PTEN Hamartoma Tumor Syndrome

    CANCER DISCOVERY . 15(7): 1350-1362. Nº de citas: 2

    [doi:10.1158/2159-8290.CD-24-0807]

  • Segarra-Casas A, Domínguez-González C, Natera-de Benito D, Kapetanovic S, Hernández-Laín A, Estévez-Arias B, Llansó L, Ortez-Gonzalez CI, Jou-Munoz C, Martí-Carrera I, López-Marquez A, Rodríguez MJ, González-Mera L, Nedkova V, Fernández-Torrón R, Rodríguez-Santiago B, Jimenez-Mallebrera C, Juntas-Morales R, López-de Munain A, Surrallés J, Nascimento-Osorio A, Gallardo E, Olive-Valls M, Gallano P and González-Quereda L.

    Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

    Annals of Clinical and Translational Neurology . 12(7): 1465-1479.

    [doi:10.1002/acn3.70078]

  • Vela-Desojo L, Pascual-Rodriguez A, Montal V, Guerrero C, Osuna-Lopez M, Guallar V, Palau F and Hoenicka J.

    A new LRRK2 variant in a family with Parkinson's disease affects binding to RAB8A

    npj Parkinsons Disease . 11(1): 154-154. Nº de citas: 1

    [doi:10.1038/s41531-025-00989-y]

  • Madrigal I, Villar-Vera C, Arca G, Exposito-Escudero JM, Rodríguez-Revenga L, Piolatti-Luna A, Muelas N, Vilchez R, Ciutad Celdran M, Codina-Bergadà A, Estévez-Arias B, Carrera-García L, Ortez-Gonzalez CI, Rodriguez-Carunchio L, Sebastiani G, Azorin I, Nascimento-Osorio A, Jou-Munoz C, Vilchez JJ and Natera-de Benito D.

    MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights

    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY . 51(3): . Nº de citas: 1

    [doi:10.1111/nan.70025]

  • Greene D, De Wispelaere K, Lees J, Codina-Solà M, Jensson BO, Hales E, Katrinecz A, Nieto Molina E, Pascoal S, Pfundt R, Schot R, Sevilla Porras M, Sleutels F, Valenzuela I, Wijngaard R, Arroyo Carrera I, Atton G, Casas-Alba D, Donnelly D, Duat Rodríguez A, Fernández Garoz B, Foulds N, García-Navas Núñez D, González Alguacil E, Jarvis J, Kant SG, Madrigal Bajo I, Martinez-Monseny T, McKee S, Ortiz Cabrera NV, Rodríguez-Revenga Bodi L, Sariego Jamardo A, Stefansson K, Sulem P, Suri M, Van Karnebeek C, Vasudevan P, Vega Pajares AI, Carracedo Á, Engelen M, Lapunzina P, Morgan NP, Morte B, Rump P, Stirrups K, Tizzano EF, Barakat TS, O'Donoghue M, Pérez-Jurado LA, Freson K, Mumford AD and Turro E.

    Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.

    NATURE GENETICS . 57(6): 1367-1373. Nº de citas: 5

    [doi:10.1038/s41588-025-02159-5]

  • Marina Caballero Bellón, Santa-María López V, Marti-Sanchez L, Martorell-Sampol L, Salinas D, Hinojosa J, Becerra MV, Pavon-Mengual M, Morales-La Madrid A, Cruz-Martínez O, Muchart-Lopez J and Salvador-Hernandez H.

    Very early-onset symptomatic CNS haemangioblastoma in Von Hippel-Lindau disease

    JOURNAL OF MEDICAL GENETICS . 62(6): 409-412.

    [doi:10.1136/jmg-2024-110477]

  • Charach, R, Pérez-Cruz M, Masoller-Casas N, Illa-Armengol M, Monterde, E, Martínez-Crespo, JM, Borrell, A, Gómez-Chiari M, Rebollo M, Borregán M, Gómez, O and Eixarch, E.

    Systematic Ultrasound Evaluation of Olfactory Sulci in Fetuses with Congenital Heart Defects: A Clue for CHARGE Syndrome Diagnosis

    FETAL DIAGNOSIS AND THERAPY . 52(3): 280-290.

    [doi:10.1159/000543190]