Search Results - "Jiménez de la Peña, Mar"

Tatton‐Brown–Rahman syndrome: Novel pathogenic variants and new neuroimaging findings by Jiménez de la Peña, Mar, Rincón‐Pérez, Irene, López‐Martín, Sara, Albert, Jacobo, Martín Fernández‐Mayoralas, Daniel, Fernández‐Perrone, Ana Laura, Jiménez de Domingo, Ana, Tirado, Pilar, Calleja‐Pérez, Beatriz, Porta, Javier, Álvarez, Sara, Fernández‐Jaén, Alberto

“…Tatton‐Brown–Rahman syndrome (TBRS) or DNMT3A‐overgrowth syndrome is characterized by overgrowth and intellectual disability associated with minor dysmorphic…”
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ANO3 and early-onset dyskinetic encephalopathy by Jiménez de Domingo, Ana, Lopez-Martín, Sara, Albert, Jacobo, Jiménez de la Peña, Mar, Tirado, Pilar, Fernández-Mayoralas, Daniel Martín, Fernández-Perrone, Ana Laura, Calleja-Pérez, Beatriz, Martínez-García, Mónica, Álvarez, Sara, Fernández-Jaén, Alberto

“…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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Mutations in BRAT1 Cause Autosomal Recessive Progressive Encephalopathy: Report of a Spanish Patient by Fernández-Jaén, Alberto, Dr, Álvarez, Sara, So, Eui Young, Ouchi, Toru, Jiménez de la Peña, Mar, Duat, Anna, Fernández-Mayoralas, Daniel Martín, Fernández-Perrone, Ana Laura, Albert, Jacobo, Calleja-Pérez, Beatriz

“…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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Postoperative reorganization of the supplementary motor area complex: A possible latent bihemispheric network by Jiménez de la Peña, María del Mar, Gil-Robles, Santiago, Aracil, Cristina, Casado, Elena Almagro, Rubio Alonso, Margarita, Martínez de Vega, Vicente

“…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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Cortical thickness at the time of the initial attack in two patients with paediatric relapsing–remitting multiple sclerosis by Fernández-Jaén, Alberto, Fernández-Mayoralas, Daniel Martín, Fernández-Perrone, Ana Laura, Jiménez de la Peña, Mar, Recio Rodríguez, Manuel, Calleja-Pérez, Beatriz, Muñoz Jareño, Nuria, Arroyo, Rafael, Albert, Jacobo

“…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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Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings by Irene Díez García-Prieto, I, Lopez-Martín, Sara, Albert, Jacobo, Jiménez de la Peña, Mar, Fernández-Mayoralas, Daniel Martín, Calleja-Pérez, Beatriz, Gómez Fernández, María Teresa, Álvarez, Sara, Pihlajaniemi, Taina, Izzi, Valerio, Fernández-Jaén, Alberto

“… 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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Radiological findings in congenital anosmia: a case report by Sánchez-Pérez, María, Recio-Rodríguez, Manuel, Jiménez-De la Peña, Mar, Carrascoso-Arranz, Javier, Martínez-De Vega, Vicente

“…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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Cortical thickness differences in the prefrontal cortex in children and adolescents with ADHD in relation to dopamine transporter (DAT1) genotype by Fernández-Jaén, Alberto, López-Martín, Sara, Albert, Jacobo, Fernández-Mayoralas, Daniel Martín, Fernández-Perrone, Ana Laura, de La Peña, Mar Jiménez, Calleja-Pérez, Beatriz, Rodríguez, Manuel Recio, López-Arribas, Sonia, Muñoz-Jareño, Nuria

“…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 by Jansma, J. Martijn, Rutten, Geert-Jan, Ramsey, Lenny E., Snijders, T. J., Bizzi, Alberto, Rosengarth, Katharina, Dodoo-Schittko, Frank, Hattingen, Elke, de la Peña, Mar Jiménez, von Campe, Gord, Jehna, Margit, Ramsey, Nick F.

“…The above article was published online with an incorrect affiliation…”
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Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases by Jiménez de la Peña, Mar, Jiménez de Domingo, Ana, Tirado, Pilar, Calleja-Pérez, Beatriz, Alcaraz, Luis A., Álvarez, Sara, Williams, Jonathan, Hagman, James R., Németh, Andrea H., Fernández-Jaén, Alberto

“…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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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 by Cabrera, José Ángel, Urmeneta Ulloa, Javier, Jímenez de la Peña, Mar, Rubio Alonso, Margarita, López Gavilán, Miguel, Bayona Horta, Silvia, Pizarro, Gonzalo, Simon, Karlos, Migoya, Teresa, Martínez de Vega, Vicente

“…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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Role of New Functional MRI Techniques in the Diagnosis, Staging, and Followup of Gynecological Cancer: Comparison with PET-CT by Alvarez Moreno, Elena, Jimenez de la Peña, Mar, Cano Alonso, Raquel

“…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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In Utero Diagnosis of PHACE Syndrome by Fetal Magnetic Resonance Imaging (MRI) by Fernández-Mayoralas, Daniel Martín, Recio-Rodríguez, Manuel, Fernández-Perrone, Ana Laura, Jiménez-de-la-Peña, Mar, Muñoz-Jareño, Nuria, Fernández-Jaén, Alberto

“…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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Prenatal Diagnosis of Frontonasal Dysplasia Associated With Bilateral Periventricular Nodular Heterotopia by Recio-Rodríguez, Manuel, Fernández-Mayoralas, Daniel Martín, Fernández-Jaén, Alberto, Fernández-Perrone, Ana Laura, Cano-Alonso, Raquel, Jiménez-de-La-Peña, Mar

“…Frontonasal dysplasia is an etiologically heterogeneous development alteration including a set of anomalies affecting the eyes, forehead, and nose as a result…”
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Current imaging modalities in the diagnosis of cervical cancer by Jiménez de la Peña, Mar, Martínez de Vega Fernández, Vicente, Recio Rodríguez, Manuel, Carrascoso Arranz, Javier, Herráiz Hidalgo, Luis, Alvarez Moreno, Elena

“…Abstract Imaging has become an important adjunct to the clinical assessment of uterine cancer, specially magnetic resonance imaging (MRI) studies. In cervical…”
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Schizencephaly: Pre- and Postnatal Magnetic Resonance Imaging by Fernández-Mayoralas, Daniel Martín, Fernández-Jaén, Alberto, Jiménez-De-La-Peña, Mar, Recio-Rodríguez, Manuel, Muñoz-Jareño, Nuria, Arroyo-González, Rafael

“…Schizencephaly is a rare disorder of neuronal migration that is characterized by the presence of clefts that extend from the ependymal surface of the lateral…”
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Neuroanatomía del trastorno por déficit de atención/hiperactividad: correlatos neuropsicológicos y clínicos by Albert Bitaubé, Jacobo, Fernández Jaén, Alberto, Martín Fernández-Mayoralas, Daniel, López Martín, Sara, Fernández Perrone, Ana Laura, Calleja Pérez, Beatriz, Jiménez de la Peña, Mar, Recio Rodríguez, Manuel

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Automatic identification of atypical clinical fMRI results by Jansma, J. Martijn, Rutten, Geert-Jan, Ramsey, Lenny E., Snijders, T. J., Bizzi, Alberto, Rosengarth, Katharina, Dodoo-Schittko, Frank, Hattingen, Elke, de la Peña, Mar Jiménez, von Campe, Gord, Jehna, Margit, Ramsey, Nick F.

“…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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A Practical Approach to Imaging of the Supplementary Motor Area and Its Subcortical Connections by de la Peña, Mar Jiménez, Gil-Robles, Santiago, de Vega, Vicente Martínez, Aracil, Cristina, Acevedo, Agustín, Rodríguez, Manuel Recio

“…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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Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism by Young, Natalie, Asif, Maria, Jackson, Matthew, Fernández-Mayoralas, Daniel Martín, de la Peña, Mar Jimenez, Calleja-Pérez, Beatriz, Álvarez, Sara, Hunter-Featherstone, Eve, Noegel, Angelika A, Höhne, Wolfgang, Nürnberg, Peter, Obara, Boguslaw, Hussain, Muhammad Sajid, Karakesisoglou, Iakowos, Fernández-Jaén, Alberto

“…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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