Maryline Carneiro

Maryline Carneiro

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Maryline Carneiro

Maryline Carneiro

Publications by authors named "Maryline Carneiro"

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A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.

Eur J Med Genet 2019 Oct 15;62(10):103726. Epub 2019 Jul 15.

Department of Genetics, Groupement Hospitalier Est, Hospices Civils de Lyon, France; INSERM U1028, CNRS UMR5292, GENDEV Team, Neurosciences Research Center of Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103726DOI Listing
October 2019

Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Authors:
Marguerite Miguet Laurence Faivre Jeanne Amiel Mathilde Nizon Renaud Touraine Fabienne Prieur Laurent Pasquier Mathilde Lefebvre Julien Thevenon Christèle Dubourg Sophie Julia Catherine Sarret Ganaëlle Remerand Christine Francannet Fanny Laffargue Odile Boespflug-Tanguy Albert David Bertrand Isidor Jacqueline Vigneron Bruno Leheup Laetitia Lambert Christophe Philippe Mylène Béri-Dexheimer Jean-Marie Cuisset Joris Andrieux Ghislaine Plessis Annick Toutain Laurent Guibaud Valérie Cormier-Daire Marlene Rio Jean-Paul Bonnefont Bernard Echenne Hubert Journel Lydie Burglen Sandrine Chantot-Bastaraud Thierry Bienvenu Clarisse Baumann Laurence Perrin Séverine Drunat Pierre-Simon Jouk Klaus Dieterich Françoise Devillard Didier Lacombe Nicole Philip Sabine Sigaudy Anne Moncla Chantal Missirian Catherine Badens Nathalie Perreton Christel Thauvin-Robinet Réseau AChro-Puce Jean-Michel Pedespan Caroline Rooryck Cyril Goizet Catherine Vincent-Delorme Bénédicte Duban-Bedu Nadia Bahi-Buisson Alexandra Afenjar Kim Maincent Delphine Héron Jean-Luc Alessandri Dominique Martin-Coignard Gaëtan Lesca Massimiliano Rossi Martine Raynaud Patrick Callier Anne-Laure Mosca-Boidron Nathalie Marle Charles Coutton Véronique Satre Cédric Le Caignec Valérie Malan Serge Romana Boris Keren Anne-Claude Tabet Valérie Kremer Sophie Scheidecker Adeline Vigouroux Marilyn Lackmy-Port-Lis Damien Sanlaville Marianne Till Maryline Carneiro Brigitte Gilbert-Dussardier Marjolaine Willems Hilde Van Esch Vincent Des Portes Salima El Chehadeh

J Med Genet 2018 Jun 4;55(6):359-371. Epub 2018 Apr 4.

Service de génétique médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs", Centre de Référence Maladies Rares "Des déficiences intellectuelles de causes rares", Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-104956DOI Listing
June 2018

MOG antibody-related disorders: common features and uncommon presentations.

J Neurol 2017 Sep 2;264(9):1945-1955. Epub 2017 Aug 2.

Service de Neurologie A, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, 69677, Bron, France.

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http://link.springer.com/10.1007/s00415-017-8583-z
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http://dx.doi.org/10.1007/s00415-017-8583-zDOI Listing
September 2017

Systematic MRI in NF1 children under six years of age for the diagnosis of optic pathway gliomas. Study and outcome of a French cohort.

Eur J Paediatr Neurol 2016 Mar 17;20(2):275-281. Epub 2015 Dec 17.

Hôpital des Enfants, CHU Purpan, Toulouse, France; Inserm, Imagerie Cérébrale et Handicaps Neurologiques UMR 825, CHU Purpan, Toulouse, France; Université de Toulouse III - Paul Sabatier, Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.12.002DOI Listing
March 2016

[Transient ischemic attack: as well a paediatric emergency].

Presse Med 2015 Feb 30;44(2):249-51. Epub 2014 Dec 30.

CHU de Saint-Étienne, hôpital Bellevue, Centre national de référence de l'AVC de l'enfant, 42055 Saint-Étienne, France. Electronic address:

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http://dx.doi.org/10.1016/j.lpm.2014.06.023DOI Listing
February 2015

Nevus anemicus in neurofibromatosis type 1: a potential new diagnostic criterion.

J Am Acad Dermatol 2013 Nov 21;69(5):768-775. Epub 2013 Aug 21.

Center of Competence for Neurofibromatosis, CHU Montpellier, Montpellier, France; University of Montpellier 1, Department of Dermatology, Saint-Eloi Hospital, CHU de Montpellier, Montpellier, France; Center of Competence for Pediatric Genetic Skin Disorders, CHU Montpellier, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2013.06.039DOI Listing
November 2013

[Convulsions of infants and children].

Rev Prat 2010 Apr;60(4):543-50

Université Montpellier-1, UFR de medecine, 34295 Montpellier Service de neuropédiatrie, CHU Montpellier, hôpital Gui-de-Chauliac, 34295 Montpellier, France.

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April 2010