Investigación

Neurometabolismo pediátrico: mecanismos de comunicación neuronal y terapias personalizadas

Buscador de publicaciones

Publicaciones

  • Tangeraas T, Ribeiro J, Backe PH, De Oyarzabal-Sanz AL, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, de los Santos MM, Muchart-Lopez J, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal-Herrero A, Stoway SD, Artuch-Iriberri R, Dixon M, Mørkrid L and Garcia-Cazorla A.

    BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

    BRAIN . 146(7): 3003-3013. Nº de citas: 8

    [doi:10.1093/brain/awad010]

  • 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 citas: 10

    [doi:10.1016/j.ymgme.2023.107624]

  • Tost A, Bachiller A, Garcia-Cazorla A, Medina-Rivera IF, Romero-Lafuente S and Mañanas MA.

    Electroencephalographic assessment in patients with Rett syndrome during cognitive stimulation by means of eye tracking technology and alternative and augmentative communication systems.

    2023 45TH ANNUAL INTERNATIONAL CONFERENCE OF THE IEEE ENGINEERING IN MEDICINE & BIOLOGY SOCIETY, EMBC . 2023: 1-4. Nº de citas: 1

    [doi:10.1109/EMBC40787.2023.10340249]

  • Casas-Alba D, Aguilar A, Alonso I, García MT, Cilio MR and Fons-Estupina C.

    Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy

    PEDIATRIC NEUROLOGY . 144: 11-15.

    [doi:10.1016/j.pediatrneurol.2023.03.004]

  • Vega-Hanna L, Sanz-Cuesta M, Casas-Alba D, Bolasell M, Martorell-Sampol L, Pias-Peleteiro LD, Lucia FA, Martinez-Monseny T and Serrano M.

    Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study

    Frontiers in pediatrics . 11: 1184529-1184529. Nº de citas: 3

    [doi:10.3389/fped.2023.1184529]

  • Mochel F, Gras D, Luton MP, Nizou M, Giovannini D, Delattre C, Aubart M, Barth M, De Saint-Martin A, Doummar D, Essid N, Garros A, Le Camus CH, Hoebeke C, The Tich SN, Perivier M, Rivera S, Rolland A, Roubertie A, Sarret C, Sevin C, Ville D, Sitbon M, Costa JM, Pons R, Garcia-Cazorla A, Vuillaumier S, Petit V, Boespflug-Tanguy O and De Vivo DC.

    Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome

    Neurology . 100(23): 2360-2373. Nº de citas: 6

    [doi:10.1212/WNL.0000000000207296]

  • Tokatly Latzer I, Bertoldi M, DiBacco ML, Arning E, Tsuboyama M, MacMullin P, Sachee D, Rotenberg A, Lee HHC, Aygun D, Opladen T, Jeltsch K, Garcia-Cazorla A, Roullet JB, Gibson KM and Pearl PL.

    The presence and severity of epilepsy coincide with reduced ?-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency

    Epilepsia . 64(6): 1516-1526. Nº de citas: 13

    [doi:10.1111/epi.17592]

  • 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 citas: 15

    [doi:10.1172/JCI162957]

  • Diana Garcia Tirado, Molera C, Álvarez Beltrán M, Mercadal-Hally M, Vaquero Raya EC, Meavilla-Olivas SM, Johanna Martínez Osorio, Barber-Martínez de la Torre I, Cárdenas Vásquez A, Segarra Canton O and Martín-de-Carpi J.

    A Better Understanding of Pediatric Autoimmune Pancreatitis: Over 13 Years of Experience

    JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION . 76(5): 640-645.

    [doi:10.1097/MPG.0000000000003732]

  • Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou-Munoz C, Ugarteburu O, Gort L, Yubero-Siles D, Garcia-Cazorla A, O'Callaghan-Gordo M, Campistol-Plana J, Muchart-Lopez J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch-Iriberri R, Ribes A, Urreizti R and Tort F.

    Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

    BRAIN PATHOLOGY . 33(3): . Nº de citas: 5

    [doi:10.1111/bpa.13134]