Publications
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Yska HAF, Golse M, Galanaud D, Amartino HM, Bergner C, Bruschi F, Eichler FS, Fatemi A, Garcia-Cazorla A, Gómez-Chiari M, Köhler W, Loes D, Lund T, Mallack EJ, Moscatelli M, Musolino PL, Nascene DR, Orthmann-Murphy JL, Parazzini C, Pouwels PJW, Ribeiro J, Roosendaal SD, Salsano E, Sgobbi PV, Sevin C, Smith Fine A, Tonduti D, Van Haren K, Zerem A, Engelen M and Mochel F.
Use of Brain MRI in Cerebral Adrenoleukodystrophy
NEUROLOGY . 106(5): . Number of citations: 1
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Mochel F, De Oyarzabal-Sanz AL, Pias-Peleteiro LD, Ribeiro J, Bassereau P, Chalut K, Cognet L, Cronin L, Hameroff S, López-Murcia FJ, Pillai EK, Sales-Pardo M, Straube A, Hallou A and Garcia-Cazorla A.
Connections between physics and metabolism in brain functions.
iScience . 29(2): 114643-114643.
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Nafria-Escalera B, Claverol J, Cubells M, Llanos C, Solé L, Sans E, López S, Català-Mora J, Rives-Solà S, Morales-La Madrid A, Pineda M, Garcia-Cazorla A, Nascimento-Osorio A, Morales-Ballús M, Roe D, Fortuny-Guasch C and Phillips B.
Cross-border access to clinical trials: participation of pediatric patients and language inclusion
PEDIATRIC RESEARCH . : .
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Deudero A, Esther Lasheras Soria, Ventura R, Montserrat-Carbonell C, Milisenda JC, Julià-Palacios NA, Matas A, Forga-Visa MT, López-Galera RM, García-Villoria J, Placeres M, Pané A, Garrabou G, Ribes A, Cardellach F, Moreno-Lozano PJ, Garcia-Cazorla A, Campistol-Plana J and Iem-Sjd-Hcb Consortia.
Modelling the Transference of Paediatric Patients with Inborn Errors of Metabolism to Adult Hospitals: Clinical Experience
Journal of Clinical Medicine . 15(1): .
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Gavazzi F, Patel V, Erler JA, Charsar B, Vaia Y, Sevagamoorthy A, Vincent A, Woidill S, Wassmer E, Houlden H, Garcia-Cazorla A, Tonduti D, Wolf NI, Van der Knaap M, Bernard G, Adang LA and Vanderver A.
Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective
PEDIATRIC NEUROLOGY . 173: 156-165.
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Sigatullina M, Hübschmann OK, Kulhánek J, Pons R, Pearson TS, Jeltsch K, Badnjarevic I, Wassenberg T, Horvath G, Stevanovic G, Kurian MA, Cortés-Saladelafont E, Roubertie A, Leuzzi V, Bertoldi M, Mastrangelo M, Assmann B, Garcia-Cazorla A and Opladen T.
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency.
JOURNAL OF INHERITED METABOLIC DISEASE . 48(6): .
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Rodriguez H, Nou-Fontanet L, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Pias-Peleteiro LD, Gutierrez A, Perera A, Garcia-Cazorla A, Fons-Estupina C and Artuch-Iriberri R.
Cerebrospinal amino acid profiling in a large cohort of neuropediatric patients with epilepsy
NEUROBIOLOGY OF DISEASE . 216: 107098-107098. Number of citations: 1
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Gil-González, M, Arias, C, Saudubray, J, Colomé-Roura R and Garcia-Cazorla A.
Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review
JOURNAL OF INHERITED METABOLIC DISEASE . 48(5): .
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Nou-Fontanet L, Musokhranova U, Ramírez-Camacho A, Delgadillo V, Insuga VS, Fernández LA, Alonso-Colmenero I, Arzimanoglou A, Garcia-Cazorla A, De Oyarzabal-Sanz AL and Fons-Estupina C.
AFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 58: 20-26. Number of citations: 1
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Pons R, Pearson TS, Pérez-Dueñas B, Garcia-Cazorla A, Kurian MA, Dalivigka Z, Zouvelou V, Outsika C, Kokkinou E, Sigatullina M, Darling A, O'Callaghan-Gordo M, Spaull R, Steel DBD, Salamou E, Forjaz MJ and Rodriguez-Blazquez C.
Development and Preliminary Validation of a Parkinsonism-Dystonia Scale for Infants and Young Children
MOVEMENT DISORDERS . 40(8): 1669-1679. Number of citations: 1
