Publications by authors named "Nicolas Leboucq"

24Publications

Menkes disease, a diagnosis to consider in case of severe epilepsy with hyperlactacidemia: a case report.

Ann Biol Clin (Paris) 2020 Aug;78(4):441-445

Département de biochimie et hormonologie, CHU Montpellier, France, PhyMedExp, Université de Montpellier (UM), Inserm, CNRS, Montpellier, France.

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http://dx.doi.org/10.1684/abc.2020.1566DOI Listing
August 2020

Phase Contrast MRI Suggests an Internal Carotid Vascular Tone Alteration in Migraines.

Neuropediatrics 2019 08 6;50(4):244-247. Epub 2019 Jun 6.

I2FH, Institut d'Imagerie Fonctionnelle Humaine, Gui de Chauliac Hospital, Montpellier, France.

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http://dx.doi.org/10.1055/s-0039-1692215DOI Listing
August 2019

Isolated neonatal bilateral vocal cord paralysis revealing a unilateral medullary defect: a case report.

BMC Pediatr 2018 11 9;18(1):351. Epub 2018 Nov 9.

Department of Neonatology and Paediatric Intensive Care Unit, Arnaud de Villeneuve Hospital, Montpellier University Hospital, 371 Avenue du Doyen Gaston Giraud, 34295, Montpellier, Cedex 5, France.

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https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887
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http://dx.doi.org/10.1186/s12887-018-1329-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234783PMC
November 2018

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Am J Hum Genet 2018 05 12;102(5):744-759. Epub 2018 Apr 12.

Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986661PMC
May 2018

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

Neurol Genet 2018 Feb 24;4(1):e217. Epub 2018 Jan 24.

Département de Neuropédiatrie (A.R., B.E., P.M., F.R.), CHU Gui de Chauliac, Montpellier; Institut des Neurosciences de Montpellier (A.R., N.H., G.M., C.P.H.), INSERM U1051, Université de Montpellier; Service de Neuroradiologie (C.-J.R., N.L.), CHU Gui de Chauliac, Montpellier; Equipe MitoLab (M.C., G.L.), UMR CNRS 6015-INSERM 1083, Institut MitoVasc, University of Angers, France; Department of Medical Genetics (C. Goizet), Hopital Pellegrin, Bordeaux University Hospital; MRGM Laboratory (C. Goizet), INSERM U1211, University of Bordeaux; Laboratoire de Génétique Moléculaire (C. Guissart), CHU de Montpellier; U1046 INSERM (P.M., F.R.), UMR9214 CNRS, Université de Montpellier; Department of Neurology (C.M.), University Hospital Gui de Chauliac, Montpellier; Centre de Référence des Malformations et Maladies Congénitales du Cervelet (L.B.), Service de Génétique, Hôpital Armand Trousseau, AP-HP, Paris, France; Wellcome Trust Centre for Mitochondrial Research (R.H.), Institute of Genetic Medicine, Newcastle University, United Kingdom; and Centre of Reference for Genetic Sensory Diseases (C.P.H.), Montpellier, France.

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http://dx.doi.org/10.1212/NXG.0000000000000217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5820597PMC
February 2018

Cerebrospinal fluid volume does not have etiological role in the incidence of positional skull deformities.

J Craniomaxillofac Surg 2017 Sep 13;45(9):1387-1393. Epub 2017 Jun 13.

Department of Plastic and Craniofacial Pediatric Surgery (Head: Guillaume Captier), Lapeyronie University Hospital, Avenue Du Doyen Gaston Giraud, Montpellier, France; Research-Team ICAR, LIRMM CNRS, University of Montpellier, France.

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http://dx.doi.org/10.1016/j.jcms.2017.06.005DOI Listing
September 2017

Interhypothalamic adhesion and multiple cerebral abnormalities in a 2-year-old boy.

J Neuroradiol 2017 Feb 24;44(1):63-64. Epub 2016 Nov 24.

Département de Neuroradiologie, Hôpital Gui-de-Chauliac, CHRU de Montpellier, 34000 Montpellier, France; Département d'Imagerie Pédiatrique, Hôpital Arnaud-de-Villeneuve, CHU de Montpellier, 34000 Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurad.2016.09.001DOI Listing
February 2017

Role of neuroimaging in the diagnosis of hereditary cerebellar ataxias in childhood.

J Neuroradiol 2016 Jun 25;43(3):176-85. Epub 2016 Apr 25.

University Hospital of Montpellier, Department of Neuroradiology, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurad.2016.03.006DOI Listing
June 2016

Reversible growth failure and complete GH deficiency in a 4-year-old girl with very early Hashimoto's thyroiditis and subsequent hyperplasia of pituitary thyrotroph cells.

Eur J Pediatr 2016 Aug 2;175(8):1119-22. Epub 2016 Feb 2.

Unité d'Endocrinologie-Gynécologie Pédiatriques, Departement de Pédiatrie, Hôpital Arnaud-de-Villeneuve, CHU Montpellier et Université Montpellier 1, Montpellier, France.

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http://dx.doi.org/10.1007/s00431-016-2698-6DOI Listing
August 2016

Neonatal respiratory distress syndrome revealing a cervical bronchogenic cyst: a case report.

BMC Pediatr 2015 Jun 27;15:72. Epub 2015 Jun 27.

Department of Neonatology and Pediatric Intensive Care Unit, Hôpital Arnaud de Villeneuve, 371 Avenue du Doyen Gaston Giraud, 34295, Montpellier Cedex 5, France.

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http://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-
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http://dx.doi.org/10.1186/s12887-015-0363-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491209PMC
June 2015

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

Hum Mol Genet 2015 Jul 21;24(14):3948-55. Epub 2015 Apr 21.

Institut des Neurosciences de Montpellier, Université de Montpellier I et II, BP 74103, 34 091 Montpellier Cedex 5, France, Service de Neuropédiatrie, CHU Gui de Chauliac, 34 295 Montpellier, France,

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http://dx.doi.org/10.1093/hmg/ddv133DOI Listing
July 2015

Cerebral Iron Accumulation Is Not a Major Feature of /SPG35.

Mov Disord Clin Pract 2015 Mar 18;2(1):56-60. Epub 2015 Feb 18.

Institute of Genetics and Cellular and Molecular Biology INSERM U964 CNRS UMR7104 University of Strasbourg Illkirch France.

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http://dx.doi.org/10.1002/mdc3.12118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6353525PMC
March 2015

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.

J Neurol Sci 2015 Feb 13;349(1-2):154-60. Epub 2015 Jan 13.

INSERM, U-1051, Institut des Neurosciences, Montpellier, France; CHU Montpellier, Centre of Reference for Genetic Sensory Diseases, Montpellier, France.

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http://dx.doi.org/10.1016/j.jns.2015.01.008DOI Listing
February 2015

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.

J Neurol Neurosurg Psychiatry 2015 Jul 16;86(7):782-5. Epub 2015 Jan 16.

Service de Neuropédiatrie, CHU Gui de Chauliac, Montpellier, France INSERM U 1051, Institut des Neurosciences de Montpellier, Montpellier, France.

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http://dx.doi.org/10.1136/jnnp-2014-309025DOI Listing
July 2015

Diffusion tensor imaging differentiates vascular parkinsonism from parkinsonian syndromes of degenerative origin in elderly subjects.

Eur J Radiol 2014 Nov 24;83(11):2074-9. Epub 2014 Jul 24.

Department of Neuroradiology, Montpellier University Hospital Center, Gui de Chauliac Hospital, Montpellier, France; I2FH, Institut d'Imagerie Fonctionnelle Humaine, Hôpital Gui de Chauliac, CHRU de, Montpellier, France; Institut de Génomique Fonctionnelle, UMR 5203 - INSERM U661 - Université Montpellier II - Université, Montpellier I, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejrad.2014.07.012DOI Listing
November 2014

Anatomic study using three-dimensional computed tomographic scan measurement for truncal maxillary nerve blocks via the suprazygomatic route in infants.

J Craniofac Surg 2009 Jan;20(1):224-8

CHU Montpellier, Unité de Chirurgie Plastique Pédiatrique, Hôpital Lapeyronie, Montpellier, France.

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http://dx.doi.org/10.1097/SCS.0b013e318191d067DOI Listing
January 2009