MARIA DEL MAR
JIMENEZ DE LA PEÑA
PROFESOR
ALBERTO
FERNANDEZ JAEN
PROFESOR
Publicaciones en las que colabora con ALBERTO FERNANDEZ JAEN (18)
2024
-
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
-
Cerebellar cognitive affective syndrome after acute cerebellitis
Pediatria de Atencion Primaria, Vol. 25, Núm. 97, pp. 49-52
2022
-
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
-
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
-
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
-
Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases
Molecular Syndromology, Vol. 12, Núm. 3, pp. 186-193
2020
-
ANO3 and early-onset dyskinetic encephalopathy
European Journal of Medical Genetics, Vol. 63, Núm. 12
2018
-
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
-
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
-
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
-
Clinical anatomy correlation in ADHD
Revista de Neurologia, Vol. 58, Núm. CONGRESO1, pp. C9-C19
-
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
-
In utero diagnosis of phace syndrome by fetal Magnetic Resonance Imaging (MRI)
Journal of Child Neurology, Vol. 29, Núm. 1, pp. 118-121
-
Prenatal diagnosis of Frontonasal dysplasia associated with bilateral periventricular nodular heterotopia
Journal of Child Neurology, Vol. 29, Núm. 10, pp. NP122-NP126
-
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
-
Síndrome PHACES (Pascual Castroviejo tipo II): resonancia magnética pre y posnatal
Radiologia, Vol. 55, Núm. 6, pp. 537-540
2012
-
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
-
Schizencephaly: Pre- and postnatal magnetic resonance imaging
Journal of Child Neurology, Vol. 25, Núm. 8, pp. 1020-1023