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Neurogenètica i Medicina Molecular

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Publicacions

  • Pascual-Pastó G, Bazan-Peregrino M, Gene-Olaciregui N, Restrepo-Perdomo CA, Mato-Berciano A, Ottaviani D, Weber K, Correa MG, Paco-Mercader S, Vilà-Ubach M, Cuadrado-Vilanova M, Castillo H, Botteri G, García-Gerique L, Moreno-Gilabert H, Gimenez-Alejandre M, Alonso-Lopez P, Farrera-Sal M, Torres-Manjon S, Ramos-Lozano D, Moreno R, Aerts I, Doz F, Cassoux N, Chapeaublanc E, Torrebadell-Burriel M, Roldan-Molina M, König A, Suñol M, Claverol J, Lavarino C, de Torres C, Fu L, Radvanyi F, Munier FL, Català-Mora J, Mora J, Alemany R, Cascallo M, Chantada G and Carcaboso AM.

    Therapeutic targeting of the RB1 pathway in retinoblastoma with the oncolytic adenovirus VCN-01

    SCIENCE TRANSLATIONAL MEDICINE . 11(476): 9321. Nº de cites: 77

    [doi:10.1126/scitranslmed.aat9321]

  • González-Sánchez P, Satrústegui J, Palau F and Del Arco A.

    Calcium Deregulation and Mitochondrial Bioenergetics in GDAP1-Related CMT Disease.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 20(2): . Nº de cites: 19

    [doi:10.3390/ijms20020403]

  • Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez-Monseny T, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczynska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R and Morava E.

    International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

    JOURNAL OF INHERITED METABOLIC DISEASE . 42(1): 5-28. Nº de cites: 93

    [doi:10.1002/jimd.12024]

  • Jou-Munoz C, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Darling A, Pias-Peleteiro L, Pérez-Dueñas B, Pineda M, Codina-Bergadà A, Arjona-Fernandez C, Armstrong-Moron J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero-Sanchez R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya C, Yubero-Siles D and Artuch-Iriberri R.

    Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

    Journal of Clinical Medicine . 8(1): . Nº de cites: 13

    [doi:10.3390/jcm8010068]

  • González-Domínguez I, Cervera L, Gòdia F and Roldan-Molina M.

    Quantitative colocalization analysis of DNA delivery by PEI-mediated cationic polymers in mammalian cells.

    JOURNAL OF MICROSCOPY . 273(1): 53-64. Nº de cites: 12

    [doi:10.1111/jmi.12760]

  • Debora Coritza Itzep Perez, Martinez-Monseny T, Bolasell M, Cuadras-Palleja D, Velázquez-Fragua R, Gutierrez-Solana LG, Macaya A, Pérez-Dueñas B and Serrano M.

    Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.

    Neuropediatrics . 49(6): 408-413. Nº de cites: 4

    [doi:10.1055/s-0038-1673332]

  • Casas-Alba D, Martinez-Monseny T, Pino-Ramirez RM, Alsina L, Castejón Ponce E, Navarro S, Pérez-Dueñas B, Serrano M, Palau F and García-Alix A.

    Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations

    HUMAN MUTATION . 39(12): 1752-1763. Nº de cites: 30

    [doi:10.1002/humu.23638]

  • Batllori-Tragant M, Molero M, Ormazabal-Herrero A, Montero-Sanchez R, Sierra-March C, Ribes A, Montoya C, Ruiz-Pesini E, O'Callaghan-Gordo M, Pias L, Nascimento-Osorio A, Palau F, Armstrong-Moron J, Yubero-Siles D, Ortigoza-Escobar JD, Garcia-Cazorla A and Artuch-Iriberri R.

    Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience

    JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1147-1158. Nº de cites: 10

    [doi:10.1007/s10545-018-0224-x]

  • Olivares M, Benítez-Páez A, de Palma G, Capilla A, Nova E, Castillejo G, Varea V, Marcos A, Garrote JA, Polanco I, Donat E, Ribes-Koninckx C, Calvo C, Ortigosa L, Palau F and Sanz Y.

    Increased prevalence of pathogenic bacteria in the gut microbiota of infants at risk of developing celiac disease: The PROFICEL study.

    Gut Microbes . 9(6): 551-558. Nº de cites: 61

    [doi:10.1080/19490976.2018.1451276]

  • Martinez-Monseny T, Bolasell M, Arjona-Fernandez C, Martorell-Sampol L, Yubero-Siles D, Armstrong-Moron J, Maynou-Fernández J, Fernandez-Isern G, Del Carmen Salgado M, Palau F and Serrano M.

    Mutation of PACS1: the milder end of the spectrum

    CLINICAL DYSMORPHOLOGY . 27(4): 148-150. Nº de cites: 16

    [doi:10.1097/MCD.0000000000000237]