Research

Paediatric Neurometabolic Disorders: Neural Communication Mechanisms and Personalised Therapies

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Publications

  • 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. Number of citations: 5

    [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. Number of citations: 12

    [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): . Number of citations: 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): . Number of citations: 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): . Number of citations: 3

    [doi:10.15252/emmm.202215847]

  • Petazzi P, Jorge-Torres OC, Gomez A, Scognamiglio I, Serra-Musach J, Merkel A, Grases D, Xiol-Viñas C, O'Callaghan-Gordo M, Armstrong-Moron J, Esteller M and Guil S.

    Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(2): . Number of citations: 5

    [doi:10.3390/ijms24021453]

  • Becerra V, Hinojosa J, Candela-Cantó SA, Culebras D, Alamar AM, Armero-Campos G, Gastón Echaniz Barbero, Artés D, Munuera-del Cerro JL and Muchart-Lopez J.

    The impact of 1.5-T intraoperative magnetic resonance imaging in pediatric tumor surgery: Safety, utility, and challenges

    Frontiers in oncology . 12: 1021335-1021335. Number of citations: 2

    [doi:10.3389/fonc.2022.1021335]

  • Candela-Cantó SA, Muchart-Lopez J, Carlos Valera Dávila, Jou-Munoz C, Culebras D, Alamar AM, Becerra V, Artés D, Armero-Campos G, Aparicio J, Hinojosa J and Rumià J.

    Completion of disconnective surgery for refractory epilepsy in pediatric patients using robot-assisted MRI-guided laser interstitial thermal therapy

    JOURNAL OF NEUROSURGERY-PEDIATRICS . 31(1): 61-70. Number of citations: 6

    [doi:10.3171/2022.9.PEDS22258]

  • 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: 9

    [doi:10.1002/jimd.12554]