People / Staff

MªAngels García Cazorla

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Publications

  • 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): . Number of citations: 3

    [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): . Number of citations: 3

    [doi:10.1111/bpa.13134]

  • 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. Number of citations: 5

    [doi:10.1111/dmcn.15659]

  • 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. Number of citations: 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): . Number of citations: 2

    [doi:10.15252/emmm.202215847]

  • 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. Number of citations: 3

    [doi:10.1093/brain/awad010]

  • 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.

    [doi:10.1109/EMBC40787.2023.10340249]

  • 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. Number of citations: 5

    [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. Number of citations: 9

    [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. Number of citations: 2

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