Publications by authors named "Caroline Espil-Taris"

13Publications

Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.

Authors:
Frédérique Audic Marta Gomez Garcia de la Banda Delphine Bernoux Paola Ramirez-Garcia Julien Durigneux Christine Barnerias Arnaud Isapof Jean-Marie Cuisset Claude Cances Christian Richelme Carole Vuillerot Vincent Laugel Juliette Ropars Cécilia Altuzarra Caroline Espil-Taris Ulrike Walther-Louvier Pascal Sabouraud Mondher Chouchane Catherine Vanhulle Valérie Trommsdorff Anne Pervillé Hervé Testard Emmanuelle Lagrue Catherine Sarret Anne-Laude Avice Pierre Beze-Beyrie Vanessa Pauly Susana Quijano-Roy Brigitte Chabrol Isabelle Desguerre

Orphanet J Rare Dis 2020 06 12;15(1):148. Epub 2020 Jun 12.

Centre de Référence des Maladies Neuromusculaires Nord/Ile de France/Est, Service de Neurologie pédiatrique, Hôpital Necker-Enfants Malades, APHP, Paris, France.

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June 2020

Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA.

Authors:
Chloé Angelini Marie Thibaud Nathalie Aladjidi Pierre Bessou Sébastien Cabasson Cindy Colson Caroline Espil-Taris Cyril Goizet Marie Husson Fanny Morice-Picard Annachiara De Sandre-Giovannoli Jean-Michel Pédespan

Neuropediatrics 2020 08 6;51(4):245-250. Epub 2020 Mar 6.

Service de Neurologie Pédiatrique, CHU de Bordeaux, Bordeaux, France.

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August 2020

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Authors:
Justine Lerat Corinne Magdelaine Anne-Françoise Roux Léa Darnaud Hélène Beauvais-Dzugan Steven Naud Laurence Richard Paco Derouault Karima Ghorab Laurent Magy Jean-Michel Vallat Pascal Cintas Eric Bieth Marie-Christine Arne-Bes Cyril Goizet Caroline Espil-Taris Hubert Journel Annick Toutain Jon Andoni Urtizberea Odile Boespflug-Tanguy Fanny Laffargue Philippe Corcia Laurent Pasquier Mélanie Fradin Sylva Napuri Jonathan Ciron Jean-Marc Boulesteix Franck Sturtz Anne-Sophie Lia

Mol Genet Genomic Med 2019 09 8;7(9):e839. Epub 2019 Aug 8.

University of Limoges, MMNP, Limoges, France.

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September 2019

[Which follow-up for innovative treatments?]

Authors:
Emmanuelle Campana-Salort Caroline Espil-Taris Hélène Prigent Marie de Antonio Bénédicte Lebrun-Vignes Vincent Tiffreau Géraldine Honnet

Med Sci (Paris) 2019 Mar 3;35 Hors série n° 1:54-56. Epub 2019 Apr 3.

Directrice du développement Généthon, Évry, France.

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March 2019

Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.

Authors:
Monique Fontaine Isabelle Kim Anne-Frédérique Dessein Karine Mention-Mulliez Dries Dobbelaere Claire Douillard Guilhem Sole Manuel Schiff Roland Jaussaud Caroline Espil-Taris Audrey Boutron Wim Wuyts Cécile Acquaviva Christine Vianey-Saban Dominique Roland Marie Joncquel-Chevalier Curt Joseph Vamecq

Mol Genet Metab 2018 04 12;123(4):441-448. Epub 2018 Feb 12.

Department of Biochemistry and Molecular Biology, Laboratory of Endocrinology, Metabolism-Nutrition, Oncology, Biology Pathology Center, CHRU Lille, 59037 Lille, France; Univ. Lille, RADEME - Maladies RAres du Développement et du Métabolisme: du phénotype au génotype et à la Fonction, Lille, EA 7364, France; Inserm, Lille, France. Electronic address:

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April 2018

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.

Authors:
Sylvie Bannwarth Vincent Procaccio Anne Sophie Lebre Claude Jardel Annabelle Chaussenot Claire Hoarau Hassani Maoulida Nathanaël Charrier Xiaowu Gai Hongbo M Xie Marc Ferre Konstantina Fragaki Gaëlle Hardy Bénédicte Mousson de Camaret Sandrine Marlin Claire Marie Dhaenens Abdelhamid Slama Christophe Rocher Jean Paul Bonnefont Agnès Rötig Nadia Aoutil Mylène Gilleron Valérie Desquiret-Dumas Pascal Reynier Jennifer Ceresuela Laurence Jonard Aurore Devos Caroline Espil-Taris Delphine Martinez Pauline Gaignard Kim-Hanh Le Quan Sang Patrizia Amati-Bonneau Marni J Falk Catherine Florentz Brigitte Chabrol Isabelle Durand-Zaleski Véronique Paquis-Flucklinger

J Med Genet 2013 Oct 11;50(10):704-14. Epub 2013 Jul 11.

IRCAN, CNRS UMR 7284/Inserm U1081/UNS, Faculté de Médecine, Nice, France.

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October 2013

Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylation.

Authors:
Christel Gentil France Leturcq Rabah Ben Yaou Jean-Claude Kaplan Pascal Laforet Isabelle Pénisson-Besnier Caroline Espil-Taris Thomas Voit Luis Garcia France Piétri-Rouxel

Hum Mol Genet 2012 Aug 15;21(15):3449-60. Epub 2012 May 15.

UM76-UPMC/U974-Inserm/UMR7215-CNRS, Institut de Myologie 105 Bd de l’Hôpital, 75013 Paris, France.

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August 2012

Adaptative capacity of mitochondrial biogenesis and of mitochondrial dynamics in response to pathogenic respiratory chain dysfunction.

Authors:
Giovanni Benard Thomas Trian Nadège Bellance Patrick Berger Julie Lavie Caroline Espil-Taris Christophe Rocher Sandrine Eimer-Bouillot Cyril Goizet Karine Nouette-Gaulain Thierry Letellier Didier Lacombe Rodrigue Rossignol

Antioxid Redox Signal 2013 Aug 19;19(4):350-65. Epub 2012 Apr 19.

Université Bordeaux, Maladies Rares: Génétique et Métabolisme (MRGM), EA 4576, F-33000 Bordeaux, France.

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August 2013

A 10-year-old boy with dark urine and acute kidney injury.

Authors:
Charles Joussain Delphine Lamireau Caroline Espil-Taris Valérie De Précigout Christine Vianey-Saban Brigitte Llanas Jérôme Harambat

Pediatr Nephrol 2011 Aug 27;26(8):1229-33. Epub 2011 Jan 27.

Service de Pédiatrie, Hôpital Pellegrin-Enfants, Centre Hospitalier Universitaire, place Amélie Raba Léon, 33076, Bordeaux cedex, France.

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August 2011

Benign nocturnal alternating hemiplegia of childhood: two cases with positive evolution.

Authors:
Frédéric Villéga Fabienne Picard Caroline Espil-Taris Marie Husson Véronique Michel Jean-Michel Pedespan

Brain Dev 2011 Jun 2;33(6):525-9. Epub 2010 Sep 2.

Department of Child Neurology, University Hospital of Bordeaux, 33076 Bordeaux Cedex, France.

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June 2011

Type I hyperprolinemia: genotype/phenotype correlations.

Authors:
Audrey Guilmatre Solenn Legallic Gary Steel Alecia Willis Gabriella Di Rosa Alice Goldenberg Valérie Drouin-Garraud Agnès Guet Cyril Mignot Vincent Des Portes Vassili Valayannopoulos Lionel Van Maldergem Jodi D Hoffman Claudia Izzi Caroline Espil-Taris Simona Orcesi Luisa Bonafé Eric Le Galloudec Hélène Maurey Christine Ioos Alexandra Afenjar Patricia Blanchet Bernard Echenne Agathe Roubertie Thierry Frebourg David Valle Dominique Campion

Hum Mutat 2010 Aug;31(8):961-5

Inserm U614, IHU, 76000 Rouen, France.

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August 2010

Severe neonatal myasthenia due to maternal anti-MuSK antibodies.

Authors:
Anthony Béhin Michèle Mayer Bouchera Kassis-Makhoul Myriam Jugie Caroline Espil-Taris Xavier Ferrer Lucienne Chatenoud Pascal Laforêt Bruno Eymard

Neuromuscul Disord 2008 Jun 22;18(6):443-6. Epub 2008 Apr 22.

Centre de Référence des maladies rares neuromusculaires Paris-Est, Institut de Myologie, Service de Neurologie Mazarin, Groupe Hospitalier Pitié-Salpêtrière, APHP, 47-83 Boulevard de l'hôpital, 75651 Paris Cedex 13, France.

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June 2008

A patient with hydranencephaly and PEHO-like dysmorphic features.

Authors:
Cyril Goizet Caroline Espil-Taris Marie Husson Jean-François Chateil Jean-Michel Pedespan Didier Lacombe

Ann Genet 2003 Jan-Mar;46(1):25-8

Service de Génétique Médicale, CHU Pellegrin-Enfants, Place Amélie Raba-Léon, 33076 cedex, Bordeaux, France.

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February 2004