Publicaciones en las que colabora con ALBERTO FERNANDEZ JAEN (18)

2024

  1. Tatton-Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings

    American Journal of Medical Genetics, Part A, Vol. 194, Núm. 2, pp. 211-217

2023

  1. Cerebellar cognitive affective syndrome after acute cerebellitis

    Pediatria de Atencion Primaria, Vol. 25, Núm. 97, pp. 49-52

2022

  1. Bi-Allelic c.1746G>T; p.Leu582 = Variants in TUBGCP4 in a boy with autism: Clinical data and literature review

    Molecular Syndromology, Vol. 13, Núm. 2, pp. 165-170

  2. Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings

    Neurocase, Vol. 28, Núm. 1, pp. 11-18

2021

  1. Abnormal frontal gyrification pattern and uncinate development in patients with KGB syndrome caused by ANKRD11 aberrations

    European Journal of Paediatric Neurology, Vol. 35, pp. 8-15

  2. Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases

    Molecular Syndromology, Vol. 12, Núm. 3, pp. 186-193

2020

  1. ANO3 and early-onset dyskinetic encephalopathy

    European Journal of Medical Genetics, Vol. 63, Núm. 12

2018

  1. Cingulate Cortical Thickness and Dopamine Transporter (DAT1) Genotype in Children and Adolescents With ADHD

    Journal of Attention Disorders, Vol. 22, Núm. 7, pp. 651-660

2016

  1. Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient

    European Journal of Paediatric Neurology, Vol. 20, Núm. 3, pp. 421-425

2015

  1. Cortical thickness differences in the prefrontal cortex in children and adolescents with ADHD in relation to dopamine transporter (DAT1) genotype

    Psychiatry Research - Neuroimaging, Vol. 233, Núm. 3, pp. 409-417

2014

  1. Clinical anatomy correlation in ADHD

    Revista de Neurologia, Vol. 58, Núm. CONGRESO1, pp. C9-C19

  2. Cortical thickness at the time of the initial attack in two patients with paediatric relapsing-remitting multiple sclerosis

    European Journal of Paediatric Neurology, Vol. 18, Núm. 3, pp. 295-300

  3. In utero diagnosis of phace syndrome by fetal Magnetic Resonance Imaging (MRI)

    Journal of Child Neurology, Vol. 29, Núm. 1, pp. 118-121

  4. Prenatal diagnosis of Frontonasal dysplasia associated with bilateral periventricular nodular heterotopia

    Journal of Child Neurology, Vol. 29, Núm. 10, pp. NP122-NP126

  5. Trastorno de Tourette y de la lectura en un niño con disrupción del tracto parietofrontal izquierdo

    Radiologia, Vol. 56, Núm. 4, pp. 361-364

2013

  1. Síndrome PHACES (Pascual Castroviejo tipo II): resonancia magnética pre y posnatal

    Radiologia, Vol. 55, Núm. 6, pp. 537-540

2012

  1. Hallazgos en la resonancia magnética potenciada en difusión en un niño con cerebelitis aguda

    Revista Espanola de Pediatria, Vol. 68, Núm. 1, pp. 46-49

2010

  1. Schizencephaly: Pre- and postnatal magnetic resonance imaging

    Journal of Child Neurology, Vol. 25, Núm. 8, pp. 1020-1023