Persones / Equip Humà

Roser Colomé Roura

Buscador de publicacions

Publicacions

  • Tamura N, Sakai S, Martorell-Sampol L, Colomé-Roura R, Mizuike A, Goto A, Ortigoza-Escobar JD and Hanada K.

    Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution

    JOURNAL OF BIOLOGICAL CHEMISTRY . 297(5): 101338-101338. Nº de cites: 7

    [doi:10.1016/j.jbc.2021.101338]

  • Garcia-Cazorla A, Verdura E, Julià-Palacios NA, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch-Iriberri R, Cousin MA, Pujol A and SHMT2 Working Group.

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

    ACTA NEUROPATHOLOGICA . 140(6): 971-975. Nº de cites: 18

    [doi:10.1007/s00401-020-02223-w]

  • Marta Sanz Palau, López-Sala A, Palacio-Navarro A, Turón M, Callejón L, Sans A, Poo P, Boix Lluch C and Colomé-Roura R.

    Prognostic factors and profile in traumatic brain injury in the paediatric age

    REVISTA DE NEUROLOGIA . 70(7): 235-245. Nº de cites: 2

    [doi:10.33588/rn.7007.2019393]

  • Castells AA, Gueraldi D, Balada R, Tristan-Noguero A, Cortés-Saladelafont E, Ramos F, Meavilla-Olivas SM, De Los Santos M, García-Volpe C, Colomé-Roura R, Couce ML, Sierra-March C, Ormazabal-Herrero A, Batllori-Tragant M, Artuch-Iriberri R, Armstrong-Moron J, Alcántara S and Garcia-Cazorla A.

    Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism

    SCIENTIFIC REPORTS . 9: 9128-9128. Nº de cites: 4

    [doi:10.1038/s41598-019-45674-2]

  • Palacio-Navarro A, López-Sala A, Colomé-Roura R, Turón M, Callejón L, Marta Sanz Palau, Sans A, Poo P and Boix Lluch C.

    Efficacy of a new parent and school-supported intervention after moderate and severe childhood traumatic brain injury

    REVISTA DE NEUROLOGIA . 68(11): 445-452. Nº de cites: 1

    [doi:10.33588/rn.6811.2018346]

  • González MJ, Rebollo M, Ripollés P, Gassió-Subirachs R, Ormazabal-Herrero A, Sierra-March C, Colomé-Roura R, Artuch-Iriberri R and Campistol-Plana J.

    White matter microstructural damage in early treated phenylketonuric patients

    ORPHANET JOURNAL OF RARE DISEASES . 13: 188-188. Nº de cites: 17

    [doi:10.1186/s13023-018-0912-5]

  • Caprile C, Campistol-Plana J, Puigcerver L, Gutiérrez-Mata AP, Alonso-Colmenero I, Colomé-Roura R and Navarra J.

    Subtle visuomotor deficits and reduced benefit from practice in early treated phenylketonuria

    JOURNAL OF CLINICAL AND EXPERIMENTAL NEUROPSYCHOLOGY . 39(10): 931-940. Nº de cites: 2

    [doi:10.1080/13803395.2017.1281381]

  • Gutiérrez-Mata AP, Vilaseca MA, Capdevila-Cirera A, Vidal-Oller M, Alonso-Colmenero I, Colomé-Roura R, López-Sala A, Lambruschini N, Gutiérrez A, Gassió-Subirachs R, Artuch-Iriberri R and Campistol-Plana J.

    Neurological, neuropsychological, and ophtalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients

    REVISTA DE NEUROLOGIA . 55(4): 200-206. Nº de cites: 3

    [doi:10.33588/rn.5504.2012038]

  • Sánchez Fernández I, Rebollo Polo M, Munoz-Almagro C, Monfort Carretero L, Fernández Ureña S, Rueda Muñoz A, Colomé-Roura R and Pérez-Dueñas B.

    Human Metapneumovirus in the Cerebrospinal Fluid of a Patient With Acute Encephalitis

    Archives of Neurology . 69(5): 649-652. Nº de cites: 21

    [doi:10.1001/archneurol.2011.1094]

  • Callejón L, Boix Lluch C, López-Sala A, Colomé-Roura R, Fumadó V and Sans A.

    Perfil neuropsicológico de niños adoptados internacionalmente en Cataluña.

    ANALES DE PEDIATRIA . 76(1): 23-29. Nº de cites: 6

    [doi:10.1016/j.anpedi.2011.07.023]