Persones / Equip Humà

MªAngels García Cazorla

Buscador de publicacions

Publicacions

  • Yildiz Y, Kuseyri Hübschmann O, Akgöz Karaosmanoglu A, Manti F, Karaca M, Schwartz IVD, Pons R, López-Laso E, Julià-Palacios NA, Porta F, Kavecan I, Balci MC, Dy-Hollins ME, Wong SN, Oppebøen M, Medeiros LS, de Paula LCP, Garcia-Cazorla A, Hoffmann GF, Jeltsch K, Leuzzi V, Gökçay G, Hübschmann D, Harting I, Özön ZA, Sivri S and Opladen T.

    Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism

    JOURNAL OF INHERITED METABOLIC DISEASE . : .

    [doi:10.1002/jimd.12658]

  • 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: 4

    [doi:10.1016/j.ymgme.2023.107624]

  • 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]

  • 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.

    [doi:10.1212/WNL.0000000000207296]

  • Justel M, Jou-Munoz C, Sariego A, Musokhranova U, Nascimento-Osorio A, Garcia-Cazorla A and Natera-de Benito D.

    Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    JOURNAL OF MEDICAL GENETICS . 60(10): 965-973.

    [doi:10.1136/jmg-2022-109132]

  • 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: 3

    [doi:10.1172/JCI162957]

  • Tokatly Latzer I, Hanson E, Bertoldi M, Garcia-Cazorla A, Tsuboyama M, MacMullin P, Rotenberg A, Roullet JB and Pearl PL.

    Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 65(12): 1596-1606. Nº de cites: 5

    [doi:10.1111/dmcn.15659]

  • 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 cites: 2

    [doi:10.1111/bpa.13134]

  • 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 cites: 6

    [doi:10.1111/epi.17592]

  • Tristan-Noguero A, Fernández Carasa I, Calatayud Aristoy C, Bermejo-Casadesús C, Marina Pons Espinal, Colini Baldeschi A, Campa L, Artigas F, Bortolozzi A, Domingo-Jiménez R, Ibáñez S, Pineda M, Artuch-Iriberri R, Raya Á, Garcia-Cazorla A and Consiglio A.

    iPSC-based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation

    EMBO Molecular Medicine . 15(3): . Nº de cites: 2

    [doi:10.15252/emmm.202215847]