MARIA DEL MAR
JIMENEZ DE LA PEÑA
PROFESOR
Universidad Autónoma de Madrid
Madrid, EspañaPublications en collaboration avec des chercheurs de Universidad Autónoma de Madrid (9)
2024
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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
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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
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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
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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
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ANO3 and early-onset dyskinetic encephalopathy
European Journal of Medical Genetics, Vol. 63, Núm. 12
2018
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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
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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
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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
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Clinical anatomy correlation in ADHD
Revista de Neurologia, Vol. 58, Núm. CONGRESO1, pp. C9-C19