Publicacions
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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: 16
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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
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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: 3
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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
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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
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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
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Sánchez-Pintos P, Meavilla-Olivas SM, López-Ramos MG, Garcia-Cazorla A and Couce ML.
Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease
Frontiers in pediatrics . 10: 969741-969741. Nº de cites: 1
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Kuseyri Hübschmann O, Julià-Palacios NA, Olivella M, Guder P, Zafeiriou DI, Horvath G, Kulhánek J, Pearson TS, Kuster A, Cortés-Saladelafont E, Ibáñez S, García-Jiménez MC, Honzík T, Santer R, Jeltsch K, Garbade SF, Hoffmann GF, Opladen T and Garcia-Cazorla A.
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
ANNALS OF NEUROLOGY . 92(2): 292-303. Nº de cites: 6
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Striano P, Auvin S, Collins A, Horvath R, Scheffer IE, Tzadok M, Miller I, Koenig MK, Lacy A, Davis R, Garcia-Cazorla A, Saneto RP, Brandabur M, Blair S, Koutsoukos T and De Vivo D.
A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome
Epilepsia . 63(7): 1748-1760. Nº de cites: 15
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Garcia-Cazorla A, De Oyarzabal-Sanz AL, Saudubray JM, Martinelly D and Dionisi-Vici C.
Genetic disorders of cellular trafficking
TRENDS IN GENETICS . 38(7): 724-751. Nº de cites: 32