Persones / Equip Humà

MªAngels García Cazorla

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: 12

    [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. Nº de cites: 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 cites: 15

    [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 cites: 18

    [doi:10.1172/JCI162957]

  • 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: 5

    [doi:10.1111/bpa.13134]

  • 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: 4

    [doi:10.15252/emmm.202215847]

  • Peters TMA, Merx J, Kooijman PC, Noga M, de Boer S, van Gemert LA, Salden G, Engelke UFH, Lefeber DJ, van Outersterp RE, Berden G, Boltje TJ, Artuch-Iriberri R, Pias-Peleteiro LD, Garcia-Cazorla A, Baric I, Thöny B, Oomens J, Martens J, Wevers RA, Verbeek MM, Coene KLM and Willemsen MAAP.

    Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit

    JOURNAL OF INHERITED METABOLIC DISEASE . 46(1): 66-75. Nº de cites: 10

    [doi:10.1002/jimd.12554]

  • Kožich V, Schwahn BC, Sokolová J, Krížková M, Ditroi T, Krijt J, Khalil Y, Krížek T, Vaculíková-Fantlová T, Stiburková B, Mills P, Clayton P, Barvíková K, Blessing H, Sykut-Cegielska J, Dionisi-Vici C, Gasperini S, Garcia-Cazorla A, Haack TB, Honzík T, Ješina P, Kuster A, Laugwitz L, Martinelli D, Porta F, Santer R, Schwarz G and Nagy P.

    Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

    REDOX BIOLOGY . 58: 102517-102517. Nº de cites: 17

    [doi:10.1016/j.redox.2022.102517]

  • 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]