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Publicaciones

  • Martinez-Monseny T, Bolasell M, Callejón L, Cuadras-Palleja D, Freniche V, Itzep DC, Gassiot S, Arango P, Casas-Alba D, de la Morena E, Corral J, Montero-Sanchez R, Pérez-Cerdá C, Pérez-Dueñas B, Artuch-Iriberri R, Jaeken J, and the CDG Spanish Consortium and Serrano M.

    AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)

    ANNALS OF NEUROLOGY . 85(5): 740-751. Nº de citas: 52

    [doi:10.1002/ana.25457]

  • Martinez-Monseny T, Cuadras-Palleja D, Bolasell M, Muchart-Lopez J, Arjona-Fernandez C, Borregan M, Algrabli A, Montero-Sanchez R, Artuch-Iriberri R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B and Serrano M.

    From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

    JOURNAL OF MEDICAL GENETICS . 56(4): 236-245. Nº de citas: 17

    [doi:10.1136/jmedgenet-2018-105588]

  • 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 citas: 93

    [doi:10.1002/jimd.12024]

  • 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 citas: 30

    [doi:10.1002/humu.23638]

  • 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 citas: 4

    [doi:10.1055/s-0038-1673332]

  • 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 citas: 16

    [doi:10.1097/MCD.0000000000000237]

  • Izquierdo-Serra M, Martinez-Monseny T, Lopez L, Carrillo-Garcia J, Edo A, Ortigoza-Escobar JD, Garcia O, Cancho-Candela R, Carrasco-Marina ML, Gutierrez-Solana LG, Cuadras-Palleja D, Muchart-Lopez J, Montero-Sanchez R, Artuch-Iriberri R, Perez-Cerda C, Perez B, Pérez-Dueñas B, Macaya A, Fernandez-Fernandez JM and Serrano M.

    Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 19(2): 619. Nº de citas: 36

    [doi:10.3390/ijms19020619]

  • Serrano NL, De Diego V, Cuadras-Palleja D, Martinez-Monseny T, Velázquez-Fragua R, López L, Felipe-Villalobos A, Gutiérrez-Solana LG, Macaya A, Pérez-Dueñas B and Serrano M.

    A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).

    ORPHANET JOURNAL OF RARE DISEASES . 12(1): 155-155. Nº de citas: 18

    [doi:10.1186/s13023-017-0707-0]

  • de Diego V, Martinez-Monseny T, Muchart-Lopez J, Cuadras-Palleja D, Montero-Sanchez R, Artuch-Iriberri R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A and Serrano M.

    Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

    JOURNAL OF INHERITED METABOLIC DISEASE . 40(5): 709-713. Nº de citas: 15

    [doi:10.1007/s10545-017-0028-4]

  • Serrano M.

    Untreatable Fits of Hyperventilation/Apnea in Pitt-Hopkins Syndrome

    Global Journal of Intellectual & Developmental Disabilities . 1(2): 555573.

    [doi:10.19080/GJIDD.2017.01.555573]