Publications by authors named "Rogelio Simon"

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A Novel Missense Variant in the NKX2-1 Prevents Transcriptional Rescue by TAZ.
Beatriz Villafuerte, Carlos Carrasco-López, Amanda Herranz, Lucía Garzón, Rogelio Simón

Thyroid· July 2024

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Mechanical Thrombectomy for Acute Stroke in a 2-Month-Old Patient and Review of the Literature in Infancy.
Alberto Rodríguez-López, Isabel Gimeno, Sara Vila, Andrea Seoane, Federico Ballenilla

Neuropediatrics· October 2022

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Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test.
Ana Arteche-López, Maria José Gómez Rodríguez, Maria Teresa Sánchez Calvin, Juan Francisco Quesada-Espinosa, Jose Miguel Lezana Rosales

Genes (Basel)· April 2021

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Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis.
Ana Camacho, Beatriz Martínez, Sara Alvarez, Belén Gil-Fournier, Soraya Ramiro

J Neuromuscul Dis· March 2021

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Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Ana Fernández-Marmiesse, Iria Roca, Felícitas Díaz-Flores, Verónica Cantarín, Mª Socorro Pérez-Poyato

Front Neurosci· November 2019

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TAZ/WWTR1 Mediates the Pulmonary Effects of NKX2-1 Mutations in Brain-Lung-Thyroid Syndrome.
Christian M Moya, Miguel A Zaballos, Lucía Garzón, Carmen Luna, Rogelio Simón

J Clin Endocrinol Metab· March 2018

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Myorhythmia-Like Dyskinesia Affecting the Face and Ear Associated With Anti--Methyl-d-Aspartate Receptor Encephalitis.
Ana Camacho, Noemí Núñez, Thaís Armangué, Rogelio Simón

Mov Disord Clin Pract· December 2015

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LAMA2-related congenital muscular dystrophy complicated by West syndrome.
Ana Camacho, Noemí Núñez, Gabriele Dekomien, Aurelio Hernández-Laín, Ana Martínez de Aragón

Eur J Paediatr Neurol· March 2015

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Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.
Madalina Raducu, Rocío P Cotarelo, Rogelio Simón, Ana Camacho, Marcos Rubio-Fernández

J Child Neurol· February 2014

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Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
Gillian I Rice, Gabriella M A Forte, Marcin Szynkiewicz, Diana S Chase, Alec Aeby, Rogelio Simon, Simona Orcesi

Lancet Neurol· December 2013

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Subcutaneous route for refractory epilepsy.
Luis Ignacio Gonzalez-Granado, Rogelio Simon, Ana Camacho-Salas

Pediatr Neurol· January 2013

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Levetiracetam-induced reversible autistic regression.
Ana Camacho, José Carlos Espín, Noemí Nuñez, Rogelio Simón

Pediatr Neurol· July 2012

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Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: two novel mutations and review of the literature.
Ana Camacho, Rogelio Simón, Raúl Sanz, Antonio Viñuela, Antonio Martínez-Salio

Epilepsy Behav· May 2012

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Dental management of oral self-mutilation in neurological patients: a case of congenital insensitivity to pain with anhidrosis.
Martin Romero, Rogelio Simón, Jose Ignacio García-Recuero, Ana Romance

Med Oral Patol Oral Cir Bucal· October 2008

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Syringomyelia secondary to posthemorrhagic hydrocephalus in a preterm infant.
Ana Camacho, Rogelio Simón, Alberto Muñoz, José Hinojosa, Carlos Orbea

Pediatr Neurol· March 2008

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Macrophagic myofasciitis in childhood: a controversial entity.
Eloy Rivas, Mercedes Gómez-Arnáiz, Jose R Ricoy, Fernando Mateos, Rogelio Simón

Pediatr Neurol· November 2005

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Clinical and histologic changes in the follow-up of a congenital myopathy.
Ana Camacho, Alberto Villarejo, Rogelio Simón, Fernando Mateos, Ana Cabello

Pediatr Neurol· August 2005

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Vertebral artery fibromuscular dysplasia: an unusual cause of stroke in a 3-year-old child.
Ana Camacho, Alberto Villarejo, Teresa Moreno, Rogelio Simón, Alberto Muñoz

Dev Med Child Neurol· October 2003

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Symptomatic epidural lipomatosis of the spinal cord in a child: MR demonstration of spinal cord injury.
Alberto Muñoz, James A Barkovich, Fernando Mateos, Rogelio Simón

Pediatr Radiol· December 2002

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