Publications en collaboration avec des chercheurs de Universidad Autónoma de Madrid (9)

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

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

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