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Publications

  • Martinez-Monseny T, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, Martorell-Sampol L, Muchart-Lopez J, Carrera-García L, Ortez-Gonzalez CI, Nascimento-Osorio A, Oliva B, Fernández-Fernández JM and Serrano M.

    CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(10): 5180. Number of citations: 3

    [doi:10.3390/ijms22105180]

  • Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano-Ozog K, Martinez-Monseny T, Curry CJ, Graham JM Jr, Velsher L, Bekheirnia MR, Seidel V, Dedousis D, Mitchell AL, DiMarino AM, Riess A, Balasubramanian M, Fish JL, Caffrey AR, Fleischer N, Pierson TM and Lacro RV.

    Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.

    CLINICAL GENETICS . 99(4): 547-557. Number of citations: 9

    [doi:10.1111/cge.13912]

  • Casas-Alba D, López-Sala L, Pérez M, Marí-Vico R, Bolasell M, Martinez-Monseny T, Muchart-Lopez J, Fernández-Fernández JM, Martorell-Sampol L and Serrano M.

    Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 185(1): 256-260. Number of citations: 2

    [doi:10.1002/ajmg.a.61939]

  • Pascual-Alonso A, Blasco-Perez L, Vidal-Falcó S, Gean Molins E, Rubio P, O'Callaghan-Gordo M, Martinez-Monseny T, Castells AA, Xiol-Viñas C, Català V, Brandi-Tarrau N, Pacheco-Fernández P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S and Armstrong-Moron J.

    Molecular characterization of Spanish patients with MECP2 duplication syndrome

    CLINICAL GENETICS . 97(4): 610-620. Number of citations: 13

    [doi:10.1111/cge.13718]

  • Ruiz-Llobet A, Isola I, Gassiot S, Català-Temprano A, Díaz-Ricart M, Martinez-Monseny T, Serrano M and Berrueco R.

    Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood

    THROMBOSIS AND HAEMOSTASIS . 120(3): 457-465. Number of citations: 3

    [doi:10.1055/s-0040-1701239]

  • Urreizti R, Lopez-Martin E, Martinez-Monseny T, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan-Gordo M, Grinberg-Vaisman DR, Bermejo-Sánchez E and Balcells S.

    Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

    ORPHANET JOURNAL OF RARE DISEASES . 15(1): 44-44. Number of citations: 16

    [doi:10.1186/s13023-020-1317-9]

  • Martinez-Monseny T, Casas-Alba D, Arjona-Fernandez C, Bolasell M, Casano-Sancho P, Muchart-Lopez J, Ramos F, Martorell-Sampol L, Palau F, García-Alix A and Serrano M.

    Okur-Chung neurodevelopmental syndrome in a patient from Spain

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 182(1): 20-24. Number of citations: 13

    [doi:10.1002/ajmg.a.61405]

  • Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Thropp EK, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny T, Blok LS, Gavrilova R and Fish JL.

    Mutation update for the SATB2 gene.

    HUMAN MUTATION . 40(8): 1013-1029. Number of citations: 29

    [doi:10.1002/humu.23771]

  • 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. Number of citations: 46

    [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. Number of citations: 14

    [doi:10.1136/jmedgenet-2018-105588]