Publications
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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.
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Romagosa J, Mata-Miquel C, Benítez R, Valls-Esteve A, Bernaus S, Ibnoulkhatib M, Stephan-Otto C and Munuera J.
GradCAM as an explicability method to evaluate the performance of deep learning models in classifying pediatric arteriovenous malformations (AVM) in arterial spin labeling sequences (ASL)
Health Information Science and Systems . 13(1): 69-69.
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Nolasco-Tovar GA, Roldan-Molina M, Jamshidi Y, Georvasilis I, Rodríguez RJ, Boostani R, Shoeibi A, Armengol L, Codina-Bergadà A, Karimiani EG, Hernando-Davalillo C, Martorell-Sampol L, Ramírez Almaraz ML, Muchart-Lopez J, Ortez-Gonzalez CI, Nascimento-Osorio A, Urreizti R, Natera-de Benito D and Serrano M.
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
Annals of Clinical and Translational Neurology . : .
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Rubio-Palau J, Escrigas-Cañameras, F, Valls-Ontañon, A, Alfons Malet Casajuana, Becerra-Castro, MV, Muchart-Lopez J and Hinojosa J.
Multidisciplinary management of intracranial migration of a fractured dental needle through the foramen ovale: a case report
Journal of Surgical Case Reports . 2025(9): .
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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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Slušná D, Muchart-Lopez J, Hinzen W and Canales-Rodríguez EJ.
White matter microstructure of language pathways in non-verbal autism: insights from diffusion tensor imaging and myelin water imaging
FRONTIERS IN HUMAN NEUROSCIENCE . 19: 1551868-1551868.
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Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero JM, Yubero-Siles D, Muchart-Lopez J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero-Abad L, Bönnemann CG, Nascimento-Osorio A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D and Palau F.
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease
ANNALS OF NEUROLOGY . : .
