Noemi Nunez-Enamorado

Noemi Nunez-Enamorado

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Noemi Nunez-Enamorado

Noemi Nunez-Enamorado

Publications by authors named "Noemi Nunez-Enamorado"

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Bilateral abducens nerve palsy as the initial clinical manifestation of meningococcal meningitis.

Enferm Infecc Microbiol Clin 2017 Jun - Jul;35(6):388-389. Epub 2016 Nov 18.

Sección de Neurología Infantil, Servicio de Neurología, Hospital Universitario 12 de Octubre, Madrid, España.

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http://dx.doi.org/10.1016/j.eimc.2016.10.002DOI Listing
March 2019

Steroids for familial acute necrotizing encephalopathy: A future investment?

Clin Neurol Neurosurg 2018 11 11;174:134-136. Epub 2018 Sep 11.

Department of Pediatric Neurology, Hospital Universitario 12 de Octubre, Avenida de Córdoba s/n, 28041, Madrid, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03038467183037
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http://dx.doi.org/10.1016/j.clineuro.2018.09.014DOI Listing
November 2018

Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review.

Brain Dev 2018 Apr 30;40(4):348-352. Epub 2017 Dec 30.

Division of Child Neurology, Hospital Universitario 12 de Octubre, Avenida de Córdoba s/n, 28041 Madrid, Spain.

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http://dx.doi.org/10.1016/j.braindev.2017.12.005DOI Listing
April 2018

[Acute torticollis on awakening in an infant].

An Pediatr (Barc) 2018 Mar 27;88(3):174-175. Epub 2017 Jul 27.

Departamento de Pediatría, Sección de Neurología Pediátrica, Hospital Universitario 12 de Octubre, Madrid, España.

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http://dx.doi.org/10.1016/j.anpedi.2017.06.007DOI Listing
March 2018

A Preterm Newborn With the "Barrel Syndrome".

Pediatr Neurol 2017 06 8;71:8-13. Epub 2017 Feb 8.

Neonatal Unit, Hospital Universitario 12 de Octubre, Madrid, Spain.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.01.030DOI Listing
June 2017

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

[Neurodevelopmental disorders as the presenting symptom of Duchenne's muscular dystrophy].

Rev Neurol 2014 Feb;58(4):187-8

Hospital Universitario 12 de Octubre, Madrid, Espana.

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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

Mid-term neurodevelopmental outcome in isolated mild ventriculomegaly diagnosed in fetal life.

Fetal Diagn Ther 2012 14;31(1):12-8. Epub 2011 Dec 14.

Fetal Medicine Unit-SAMID, Department of Obstetrics and Gynecology, Hospital Universitario 12 de Octubre, Madrid, Spain.

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http://dx.doi.org/10.1159/000331408DOI Listing
November 2012