Personas / Equipo Humano

Adrián Alcalá San Martín

Buscador de publicaciones

Publicaciones

  • Epifani F, Cabus, Lluc, Nolasco-Tovar GA, Bolasell M, Perez, Jennifer, Alcalá-San Martin A, Fernandez, Patricia, Lizano, Esther, Marquez, Gisela, Belmonte, Sonia, Carbonell-Sala, Silvia, Lagarde, Julien, Curado, Joao, Hernando-Davalillo C and Serrano M.

    Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(6): .

    [doi:10.1002/jimd.70104]

  • Amato ME, Balsells S, Martorell-Sampol L, Alcalá-San Martin A, Ansell K, Børresen ML, Johnson H, Korff C, Garcia-Tarodo S, Lefranc J, Denommé-Pichon AS, Sarrazin E, Szabo NZ, Saraiva JM, Wicher D, Goverde A, Bindels-de Heus KGCB, Barakat TS and Ortigoza-Escobar JD.

    Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 53: 63-72. Nº de citas: 3

    [doi:10.1016/j.ejpn.2024.10.005]

  • Soliani L, Alcalá-San Martin A, Balsells S, Hernando-Davalillo C and Ortigoza-Escobar JD.

    Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature

    Movement Disorders Clinical Practice . 10(4): 547-557. Nº de citas: 7

    [doi:10.1002/mdc3.13711]

  • Hernando-Davalillo C, Alcalá-San Martin A, Borregán M and Ortigoza-Escobar JD.

    De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder

    CLINICAL GENETICS . 102(5): 434-437. Nº de citas: 2

    [doi:10.1111/cge.14194]

  • Pijuan-Marquilles J, Ortigoza-Escobar JD, Juan Jairo Ortiz Guerra, Alcalá-San Martin A, Calvo MJ, Cubells M, Hernando-Davalillo C, Palau F and Hoenicka J.

    PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder

    AUTISM RESEARCH . 14(6): 1088-1100. Nº de citas: 10

    [doi:10.1002/aur.2502]

  • Chinigioli M, Marti-Sanchez L, Yubero-Siles D, Xiol-Viñas C, Olival J, Alcalá-San Martin A, Hernando-Davalillo C, Martorell-Sampol L, Armstrong-Moron J, Schteinschnaider Á and Ortigoza-Escobar JD.

    Diagnostic value of genetic testing, with focus on CACNA1A, in children with episodic neurologic disorders: a single-centre retrospective study.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 60: 50-57.

    [doi:10.1016/j.ejpn.2025.11.005]