Publications by authors named "Rogelio Simon"

16Publications

Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis.

J Neuromuscul Dis 2020 ;7(3):309-313

Sección Neurología Infantil, Servicio de Neurología, Hospital Universitario 12 de Octubre, Universidad Complutense de Madrid, Spain.

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http://dx.doi.org/10.3233/JND-200477DOI Listing
January 2020

TAZ/WWTR1 Mediates the Pulmonary Effects of NKX2-1 Mutations in Brain-Lung-Thyroid Syndrome.

J Clin Endocrinol Metab 2018 03;103(3):839-852

Thyroid Molecular Laboratory, Institute for Medical and Molecular Genetics, La Paz University Hospital, Madrid, Spain.

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http://dx.doi.org/10.1210/jc.2017-01241DOI Listing
March 2018

Myorhythmia-Like Dyskinesia Affecting the Face and Ear Associated With Anti--Methyl-d-Aspartate Receptor Encephalitis.

Mov Disord Clin Pract 2016 Jul-Aug;3(4):425-426. Epub 2015 Dec 24.

Child Neurology Unit Department of Neurology Hospital Universitario 12 de Octubre Facultad de Medicina Universidad Complutense Madrid Spain.

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http://doi.wiley.com/10.1002/mdc3.12300
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http://dx.doi.org/10.1002/mdc3.12300DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353447PMC
December 2015

LAMA2-related congenital muscular dystrophy complicated by West syndrome.

Eur J Paediatr Neurol 2015 Mar 2;19(2):243-7. Epub 2014 Dec 2.

Child Neurology Unit, Hospital Universitario 12 de Octubre, Madrid, Spain.

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http://dx.doi.org/10.1016/j.ejpn.2014.11.005DOI Listing
March 2015

Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.

J Child Neurol 2014 Feb 25;29(2):289-94. Epub 2013 Nov 25.

1Departamento de Bioquímica, Instituto de Investigaciones Biomédicas "Alberto Sols" UAM-CSIC, IdIPAZ, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1177/0883073813509119DOI Listing
February 2014

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013

Levetiracetam-induced reversible autistic regression.

Pediatr Neurol 2012 Jul;47(1):65-7

Section of Pediatric Neurology, Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.04.002DOI Listing
July 2012

Cognitive and behavioral profile in females with epilepsy with PDCH19 mutation: two novel mutations and review of the literature.

Epilepsy Behav 2012 May 14;24(1):134-7. Epub 2012 Apr 14.

Child Neurology Unit, Hospital Universitario 12 de Octubre, Carretera de Andalucía km 5,4, 28041 Madrid, Spain.

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http://dx.doi.org/10.1016/j.yebeh.2012.02.023DOI Listing
May 2012

Dental management of oral self-mutilation in neurological patients: a case of congenital insensitivity to pain with anhidrosis.

Med Oral Patol Oral Cir Bucal 2008 Oct 1;13(10):E644-7. Epub 2008 Oct 1.

Teaching Unit of Integral Pediatric Dentistry, Dental Clinic, Rey Juan Carlos University, Madrid. Spain.

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October 2008

Syringomyelia secondary to posthemorrhagic hydrocephalus in a preterm infant.

Pediatr Neurol 2008 Mar;38(3):211-4

Department of Pediatric Neurology, Hospital Universitario 12 de Octubre, Carretera de Andalucia Km. 5.4, Madrid, Spain.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.10.014DOI Listing
March 2008

Macrophagic myofasciitis in childhood: a controversial entity.

Pediatr Neurol 2005 Nov;33(5):350-6

Department of Pathology, Neuropathology Section, Hospital Universitario 12 de Octubre, Madrid, Spain.

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http://dx.doi.org/10.1016/j.pediatrneurol.2005.05.024DOI Listing
November 2005

Clinical and histologic changes in the follow-up of a congenital myopathy.

Pediatr Neurol 2005 Aug;33(2):139-41

Department of Pediatric Neurology, Hospital Doce de Octubre, Madrid, Spain.

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http://dx.doi.org/10.1016/j.pediatrneurol.2005.02.012DOI Listing
August 2005

Vertebral artery fibromuscular dysplasia: an unusual cause of stroke in a 3-year-old child.

Dev Med Child Neurol 2003 Oct;45(10):709-11

Department of Paediatric Neurology, Hospital Doce de Octubre, Madrid, Spain.

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http://dx.doi.org/10.1017/s0012162203001312DOI Listing
October 2003

Symptomatic epidural lipomatosis of the spinal cord in a child: MR demonstration of spinal cord injury.

Pediatr Radiol 2002 Dec 3;32(12):865-8. Epub 2002 Oct 3.

Department of Radiology, Section of Neuroradiology, University of California-San Francisco, CA 94143-0638, USA.

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http://dx.doi.org/10.1007/s00247-002-0811-7DOI Listing
December 2002