Á. Sánchez-Montáñez

发表

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene

R. Carrozzo, F. Tort, A. Ribes, 2020, Journal of inherited metabolic disease.

Imaging abusive head trauma: why use both computed tomography and magnetic resonance imaging?

P. Cano, É. Vázquez, I. Delgado, 2014, Pediatric Radiology.

Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings

M. Campo, S. Boronat, É. Vázquez, 2017, Brain and Development.

Correlation between morphological MRI findings and specific diagnostic categories in fetal alcohol spectrum disorders.

M. Del Campo, S. Boronat, É. Vázquez, 2017, European journal of medical genetics.

Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

M. Sobrido, M. Martínez-Vicente, B. Pérez-Dueñas, 2020, Annals of clinical and translational neurology.

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.

E. Ruiz-Pesini, R. Artuch, M. Bayona-Bafaluy, 2019, Molecular genetics and metabolism.

Paraneoplastic Limbic Encephalitis in a Male with Squamous Cell Carcinoma of the Lung

J. Bosch-Barrera, L. Ramió-Torrentá, A. Izquierdo, 2014, Journal of clinical neurology.

Measurements of signal intensity of globus pallidus and dentate nucleus suggest different deposition characteristics of macrocyclic GBCAs in children

É. Vázquez, I. Delgado, Cyprian Olchowy, 2018, PloS one.

Etanercept-Induced Myelopathy in a Pediatric Case of Blau Syndrome

Á. Sánchez-Montáñez, C. Modesto, M. Roig-Quilis, 2012, Case reports in rheumatology.

At-risk brain tissue identified with arterial spin labeling in neurotuberculosis

Persefoni N. Margariti, É. Vázquez, I. Delgado, 2013, Pediatric Radiology.

Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

E. Tizzano, F. Munell, I. Valenzuela, 2017, European journal of medical genetics.

Inflammatory Disease of the Paranasal Sinuses Acute Sinusitis

M. Castillo, É. Vázquez, Á. Sánchez-Montáñez, 2017 .

Sinonasal Diseases in Children

M. Castillo, É. Vázquez, Á. Sánchez-Montáñez, 2017 .

Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests

I. Pulido-Valdeolivas, S. Quijano-roy, D. Gómez-Andrés, 2019, Muscle & nerve.

Epileptic encephalopathy after HHV6 post-transplant acute limbic encephalitis in children: Confirmation of a new epilepsy syndrome

A. Macaya, T. Armangué, Á. Sánchez-Montáñez, 2013, Epilepsy Research.

Seizures and electroencephalography findings in 61 patients with fetal alcohol spectrum disorders.

M. Del Campo, S. Boronat, É. Vázquez, 2017, European journal of medical genetics.

Side effects of oncologic therapies in the pediatric central nervous system: update on neuroimaging findings.

G. Enríquez, É. Vázquez, I. Delgado, 2011, Radiographics : a review publication of the Radiological Society of North America, Inc.

Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

F. Rivier, C. Béroud, E. Malfatti, 2021, Journal of Neurology.

Use of echo-planar diffusion-weighted MRI compared to high-resolution CT in the study of pediatric cholesteatoma

F. Pumarola, Á. Sánchez-Montáñez, M., 2013 .

Primary endovascular treatment for acute ischemic stroke in teenage patients: a short case series

M. Ribó, A. Macaya, T. Sola, 2020, Neuroradiology.

Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2

E. Tizzano, I. Valenzuela, Á. Sánchez-Montáñez, 2021, American Journal of Medical Genetics. Part A.

Genetic diagnosis of basal ganglia disease in childhood

E. García-Arumí, B. Pérez-Dueñas, A. Moreno-Galdó, 2022, Developmental medicine and child neurology.

Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow‐up

I. Pulido-Valdeolivas, R. Carlier, S. Quijano-roy, 2018, Muscle & nerve.

Reversible cerebral vasoconstriction mimicking posterior reversible encephalopathy syndrome in an infant with end-stage renal disease

M. Severino, E. Verrina, G. Morana, 2015, Cephalalgia : an international journal of headache.

Leigh syndrome associated with TRMU gene mutations

J. A. Arranz, F. Tort, E. García-Arumí, 2020, Molecular genetics and metabolism reports.

Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature.

E. Martínez-Sáez, M. Clemente, A. Carrascosa, 2017, European journal of medical genetics.

Epileptic encephalopathy after HHV6 post-transplant acute limbic encephalitis in children: Confirmation of a new epilepsy syndrome

A. Macaya, T. Armangué, Á. Sánchez-Montáñez, 2013, Epilepsy Research.

A comprehensive study of skeletal muscle imaging in FHL1 ‐related reducing body myopathy

A. Arai, L. Medne, C. Bönnemann, 2023, Annals of clinical and translational neurology.

Measurements of signal intensity of globus pallidus and dentate nucleus suggest different deposition characteristics of macrocyclic GBCAs in children

É. Vázquez, I. Delgado, Cyprian Olchowy, 2018, PloS one.