Search Results - "Jimenez de la Peña, Mar"
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Role of New Functional MRI Techniques in the Diagnosis, Staging, and Followup of Gynecological Cancer: Comparison with PET-CT
Published in Radiology Research and Practice (01-01-2012)“…Recent developments in diagnostic imaging techniques have magnified the role and potential of both MRI and PET-CT in female pelvic imaging. This article…”
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2
Tatton‐Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings
Published in American journal of medical genetics. Part A (01-02-2024)“…Tatton‐Brown–Rahman syndrome (TBRS) or DNMT3A‐overgrowth syndrome is characterized by overgrowth and intellectual disability associated with minor dysmorphic…”
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3
Automatic identification of atypical clinical fMRI results
Published in Neuroradiology (01-12-2020)“…Purpose Functional MRI is not routinely used for neurosurgical planning despite potential important advantages, due to difficulty of determining quality. We…”
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4
A Practical Approach to Imaging of the Supplementary Motor Area and Its Subcortical Connections
Published in Current neurology and neuroscience reports (01-11-2020)“…Purpose of Review First, an anatomical and functional review of these cortical areas and subcortical connections with T-fMRI and tractography techniques;…”
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5
Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism
Published in Genes (24-08-2021)“…Autism spectrum disorder (ASD) is a group of neurological and developmental disabilities characterised by clinical and genetic heterogeneity. The current study…”
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ANO3 and early-onset dyskinetic encephalopathy
Published in European journal of medical genetics (01-12-2020)“…Mutations in the ANO3 gene have been associated with autosomal dominant craniocervical dystonia. However, little else is known about the genotype-phenotype…”
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7
White-Matter Lesions and Cortical Cerebral Blood Flow Evaluation by 3D Arterial Spin-Labeled Perfusion MRI in Asymptomatic Divers: Correlation with Patent Foramen Ovale Ocurrence
Published in Journal of clinical medicine (14-04-2023)“…Cerebral white-matter lesions (cWML) can be caused by dilation of Virchow-Robin spaces or may correspond to true lacunar ischemic lesions. The aim of our study…”
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8
Early perfusion changes in multiple sclerosis patients as assessed by MRI using arterial spin labeling
Published in Acta radiologica open (01-12-2019)“…Background Gadolinium-perfusion magnetic resonance (MR) identifies gray matter abnormalities in early multiple sclerosis (MS), even in the absence of…”
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9
Mutations in BRAT1 Cause Autosomal Recessive Progressive Encephalopathy: Report of a Spanish Patient
Published in European journal of paediatric neurology (01-05-2016)“…Abstract We describe a 4-year-old male child born to non-consanguineous Spanish parents with progressive encephalopathy (PE), microcephaly, and hypertonia…”
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10
Postoperative reorganization of the supplementary motor area complex: A possible latent bihemispheric network
Published in Clinical neurology and neurosurgery (01-11-2024)“…Brain plasticity after multistep surgery in low-grade glioma is highly variable; the neurosurgical approach must be individualised and functional imaging can…”
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11
Cortical thickness at the time of the initial attack in two patients with paediatric relapsing–remitting multiple sclerosis
Published in European journal of paediatric neurology (01-05-2014)“…Abstract Background Multiple sclerosis (MS) is a chronic demyelinating disease of the central nervous system with a low incidence in the paediatric population;…”
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12
Spontaneous skull base meningoencephaloceles and cerebrospinal fluid fistulas
Published in Radiographics (01-03-2013)“…Cerebrospinal fluid (CSF) fistulas are characterized by the egress of CSF from the intracranial cavity through an osteodural disruption between the…”
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13
Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings
Published in Neurocase (02-01-2022)“… COL18A1 gene mutations have been associated with Knobloch syndrome, which is characterized by ocular and brain abnormalities. Here we report a 4.5 years-old…”
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14
Radiological findings in congenital anosmia: a case report
Published in Revista de neurologiá (16-07-2011)“…Hypoplasia of the olfactory tracts and bulbs is a rare cause of anosmia in the paediatric population. In most cases it is usually due to an acquired cause and…”
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15
Cortical thickness differences in the prefrontal cortex in children and adolescents with ADHD in relation to dopamine transporter (DAT1) genotype
Published in Psychiatry research. Neuroimaging (30-09-2015)“…Abstract Several lines of evidence suggest that the dopamine transporter gene (DAT1) plays a crucial role in attention deficit hyperactivity disorder (ADHD)…”
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Correction to: Automatic identification of atypical clinical fMRI results
Published in Neuroradiology (01-12-2020)“…The above article was published online with an incorrect affiliation…”
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17
Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases
Published in Molecular syndromology (01-06-2021)“…Early B cell factor 3 (EBF3) is a transcription factor involved in brain development. Heterozygous, loss-of-function mutations in EBF3 have been reported in an…”
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Bi-Allelic c.1746G>T; p.Leu582= Variants in TUBGCP4 in a Boy with Autism: Clinical Data and Literature Review
Published in Molecular syndromology (2022)“…Abstract Bi-allelic mutations in the TUBGCP4 gene have been recently associated with autosomal recessive microcephaly with chorioretinopathy. However, little…”
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Cingulate Cortical Thickness and Dopamine Transporter (DAT1) Genotype in Children and Adolescents With ADHD
Published in Journal of attention disorders (01-05-2018)“…Objective: This study aimed to examine the influence of dopamine transporter gene (DAT1) 3’UTR genotype on cingulate cortical thickness in a large sample of…”
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In Utero Diagnosis of PHACE Syndrome by Fetal Magnetic Resonance Imaging (MRI)
Published in Journal of child neurology (01-01-2014)“…The acronym PHACE describes the association of facial hemangioma with anomalies of the posterior fossa, cerebral arteries, and cardiovascular and ocular…”
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