Persones / Equip Humà

Natalia Alexandra Julià Palacios

Buscador de publicacions

Publicacions

  • Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, Garcia-Cazorla A, Gijavanekar C, Gümüs EY, Hamad MH, Hismi B, Honzik T, Hübschmann OK, Hwu WL, Ibáñez-Micó S, Jeltsch K, Julià-Palacios NA, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J and Blau N.

    Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

    MOLECULAR GENETICS AND METABOLISM . 139(3): 107624-107624. Nº de cites: 10

    [doi:10.1016/j.ymgme.2023.107624]

  • Planas-Serra L, Launay N, Goicoechea L, Heron B, Jou-Munoz C, Julià-Palacios NA, Ruiz M, Fourcade S, Casasnovas C, De La Torre C, Gelot A, Marsal M, Loza-Alvarez P, Garcia-Cazorla A, Fatemi A, Ferrer I, Portero-Otin M, Area-Gómez E and Pujol A.

    Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity

    JOURNAL OF CLINICAL INVESTIGATION . 133(10): . Nº de cites: 14

    [doi:10.1172/JCI162957]

  • Alfonsi C, Stephan-Otto C, Cortès-Saladelafont E, Julià-Palacios NA, Podzamczer-Valls I, Cruz NG, Jiménez MRD, Micó SI, Vila MT, Jeltsch K, Hübschmann OK, Opladen T, Velázquez Fragua R, Gómez T, Alcoverro Fortuny O, García-Jimenez I, López-Laso E, Roche-Martínez A, Muchart-Lopez J and Garcia-Cazorla A.

    Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders

    Neuroradiology . 64(11): 2179-2190. Nº de cites: 2

    [doi:10.1007/s00234-022-02989-8]

  • Kuseyri Hübschmann O, Julià-Palacios NA, Olivella M, Guder P, Zafeiriou DI, Horvath G, Kulhánek J, Pearson TS, Kuster A, Cortés-Saladelafont E, Ibáñez S, García-Jiménez MC, Honzík T, Santer R, Jeltsch K, Garbade SF, Hoffmann GF, Opladen T and Garcia-Cazorla A.

    Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia

    ANNALS OF NEUROLOGY . 92(2): 292-303. Nº de cites: 6

    [doi:10.1002/ana.26423]

  • Julià-Palacios NA, Molina-Anguita, C, Sigatullina M, Cortés-Saladelafont E, Aparicio J, Cuadras-Palleja D, Horvath, G, Fons-Estupina C, Artuch-Iriberri R and Garcia-Cazorla A.

    Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 64(7): 915-923. Nº de cites: 5

    [doi:10.1111/dmcn.15140]

  • Santos-Gómez A, Miguez-Cabello F, Julià-Palacios NA, García-Navas D, Soto-Insuga V, García-Peñas JJ, Fuentes P, Ibáñez-Micó S, Cuesta L, Cancho R, Andreo-Lillo P, Gutiérrez-Aguilar G, Alonso-Luengo O, Málaga I, Hedrera-Fernández A, Garcia-Cazorla A, Soto D, Olivella M and Altafaj X.

    Paradigmatic De Novo GRIN1Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(23): 12656. Nº de cites: 9

    [doi:10.3390/ijms222312656]

  • Keller M, Brennenstuhl H, Kuseyri Hübschmann O, Manti F, Julià-Palacios NA, Friedman J, Yildiz Y, Koht JA, Wong SN, Zafeiriou DI, López-Laso E, Pons R, Kulhánek J, Jeltsch K, Serrano-Lomelin J, Garbade SF, Opladen T, Goez H, Burlina A, Cortés-Saladelafont E, Fernández Ramos JA, Garcia-Cazorla A, Hoffmann GF, Kiat Hong ST, Honzík T, Kavecan I, Kurian MA, Leuzzi V, Lücke T, Manzoni F, Mastrangelo M, Mercimek-Andrews S, Mir P, Oppebøen M, Pearson TS, Sivri HS, Steel D, Stevanovic G, Fung CW and International Working Group on Neurotransmitter related Disorders (iNTD).

    Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

    JOURNAL OF INHERITED METABOLIC DISEASE . 44(6): 1489-1502. Nº de cites: 7

    [doi:10.1002/jimd.12416]

  • Opladen T, Gleich F, Kozich V, Scarpa M, Martinelli D, Schaefer F, Jeltsch K, Julià-Palacios NA, Garcia-Cazorla A, Dionisi-Vici C and Kölker S.

    U-IMD: the first Unified European registry for inherited metabolic diseases

    ORPHANET JOURNAL OF RARE DISEASES . 16(1): 95-95. Nº de cites: 16

    [doi:10.1186/s13023-021-01726-3]

  • Rubio-Gozalbo, ME, Derks, B, Das, AM, Meyer, U, Moslinger, D, Couce, ML, Empain, A, Ficicioglu, C, Julià-Palacios NA, de los Santos MM, Rivera, IA, Scholl-Burgi, S, Bosch, AM, Cassiman, D, Demirbas, D, Gautschi, M, Knerr, I, Labrune, P, Skouma, A, Verloo, P, Wortmann, SB, Treacy, EP, Timson, DJ and Berry, GT.

    Galactokinase deficiency: lessons from the GalNet registry

    GENETICS IN MEDICINE . 23(1): 202-210. Nº de cites: 16

    [doi:10.1038/s41436-020-00942-9]

  • García-Recio A, Santos-Gómez A, Soto D, Julià-Palacios NA, Garcia-Cazorla A, Altafaj X and Olivella M.

    GRIN database: A unified and manually curated repertoire of GRIN variants

    HUMAN MUTATION . 42(1): 8-18. Nº de cites: 28

    [doi:10.1002/humu.24141]