Bernard Echenne

Bernard Echenne

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Bernard Echenne

Bernard Echenne

Publications by authors named "Bernard Echenne"

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Cognitive impairment in children with CACNA1A mutations.

Dev Med Child Neurol 2019 May 21. Epub 2019 May 21.

Département de Neuropédiatrie, CHU Gui de Chauliac, Montpellier, France.

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http://dx.doi.org/10.1111/dmcn.14261DOI Listing
May 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

Insights in Developmental Coordination Disorder.

Curr Pediatr Rev 2017 ;13(2):111-119

Department of Nuclear Medicine and Radiobiology, 3001, 12th Avenue North, Sherbrooke (Qc) J1H 5N4. Canada.

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http://www.eurekaselect.com/154487/article
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http://dx.doi.org/10.2174/1573396313666170726113550DOI Listing
February 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

Study of clinical characteristics in young subjects with Developmental coordination disorder.

Brain Dev 2016 Jun 4;38(6):538-47. Epub 2016 Jan 4.

Department of Nuclear Medicine and Radiobiology, University of Sherbrooke, Sherbrooke, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2015.12.010DOI Listing
June 2016

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

Neurology 2016 Jan 11;86(2):161-9. Epub 2015 Dec 11.

From UMR7370 CNRS (K.H., S.G., S.B.), LP2M, Labex ICST, University Nice Sophia-Antipolis, Faculté de Médecine, Nice, France; Centre de Recherche (H.P., M.C.), Institut Universitaire en Santé Mentale de Québec; Department of Medicine (H.P., M.C.), Université Laval, Québec City, Canada; CHRU Montpellier (F.R., R.J.M., B.E.), Neuropédiatrie & Centre de Référence Maladies Neuromusculaires, Montpellier; Université de Montpellier (F.R., B.E.); INSERM (F.R.), U1046, CNRS, UMR9214, Montpellier; INSERM (D.S., B.F., B.E., S.N.), U1127, Paris; Sorbonne Universités (D.S., B.F., B.E., S.N.), UPMC University Paris 6, UMR S1127; CNRS (D.S., B.F., B.E., S.N.), UMR 7225, Paris; Institut du Cerveau et de la Moelle Épinière (D.S., B.F., B.E., S.N.), ICM, Paris; AP-HP (D.S., B.F., B.E.), Centres de Référence des Canalopathies Musculaires et des Maladies Neuro-musculaires Paris-Est, Service de Biochimie Métabolique, Hôpital de la Pitié Salpêtrière, France; and MRC Centre for Neuromuscular Diseases (L.K., M.G.H., R.M.), UCL Institute of Neurology, London, UK.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000002264DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731685PMC
January 2016

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

Congenital and infantile myotonic dystrophy.

Handb Clin Neurol 2013 ;113:1387-93

Neuromuscular Illness Reference Center, Pediatric Neurology Service, Hôpital Gui de Chauliac, Université de Montpellier I, Montpellier, France and Sherbrooke University, Sherbrooke,Canada. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00009-5DOI Listing
March 2014

Benign paroxysmal vertigo of childhood: long-term outcome.

Cephalalgia 2011 Mar 17;31(4):439-43. Epub 2010 Sep 17.

Department of Neurology, Gui de Chauliac University Hospital, France.

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https://www.mm3admin.co.za/documents/docmanager/6e64f7e1-715
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http://cep.sagepub.com/cgi/doi/10.1177/0333102410382797
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http://dx.doi.org/10.1177/0333102410382797DOI Listing
March 2011

Monoamine metabolism study in severe, early-onset epilepsy in childhood.

Epileptic Disord 2008 Jun;10(2):130-5

Child Neurology Department, Université de Montpellier, France.

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http://dx.doi.org/10.1684/epd.2008.0181DOI Listing
June 2008

Myotonic dystrophy type I in childhood Long-term evolution in patients surviving the neonatal period.

Eur J Paediatr Neurol 2008 May 24;12(3):210-23. Epub 2007 Sep 24.

Service de Neuropédiatrie, Centre hospitalier universitaire de Montpellier, France.

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http://dx.doi.org/10.1016/j.ejpn.2007.07.014DOI Listing
May 2008

Cerebrospinal fluid analysis in the diagnosis and treatment of arterial ischemic stroke.

Pediatr Neurol 2008 Jan;38(1):1-9

Division of Pediatric Neurology, Montreal Children's Hospital-McGill University Health Center, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.09.005DOI Listing
January 2008

A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome.

Neuromuscul Disord 2007 May 23;17(5):409-14. Epub 2007 Mar 23.

AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Unité Fonctionnelle de Cardiogénétique et Myogénétique, Service de Biochimie B, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2007.01.018DOI Listing
May 2007

Partial epilepsy and 47,XXX karyotype: report of four cases.

Pediatr Neurol 2006 Jul;35(1):69-74

Service de Neuropédiatrie, Hôpital Gui de Chauliac, Montpellier, France.

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http://dx.doi.org/10.1016/j.pediatrneurol.2006.01.003DOI Listing
July 2006

Benefit of glucocorticosteroid in the routine therapy of bacterial meningitis in children.

Eur J Paediatr Neurol 2006 Jul 1;10(4):163-6. Epub 2006 Sep 1.

Child Neurology Department, CHU de Sherbrooke, Université de Sherbrooke, 3001 12eme avenue Nord, Sherbrooke, Qué., Canada J1H 5N4.

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http://dx.doi.org/10.1016/j.ejpn.2006.06.004DOI Listing
July 2006

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.

Neuromuscul Disord 2004 Oct;14(10):650-8

Laboratoire de Génétique Moleculaire et Chromosomique, Institut Universitaire de Recherche Clinique (IURC), CHU de Montpellier, 641 avenue du Doyen G. Giraud, 34093 Montpellier Cedex 5, France.

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http://dx.doi.org/10.1016/j.nmd.2004.05.002DOI Listing
October 2004

Congenital club foot with survival of motor neuron 1, telomeric (SMN1) gene deletion.

J Child Neurol 2004 Mar;19(3):212-3

Service de Neuropédiatrie, Hôpital Saint-Eloi, Montpellier, France.

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March 2004

Ataxia with vitamin E deficiency and severe dystonia: report of a case.

Brain Dev 2003 Sep;25(6):442-5

Service de Neuropédiatrie, Hôpital Saint Eloi, 80 Avenue Augustin Fliche, 34295 Montpellier Cedex 5, France.

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http://dx.doi.org/10.1016/s0387-7604(03)00054-8DOI Listing
September 2003

Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency.

Eur J Pediatr 2003 Jul 6;162(7-8):466-475. Epub 2003 May 6.

Service Central d'Hématologie, Hopital Henri Mondor, 51 avenue du Maréchal de Lattre de Tassigny, 94010, Creteil, France.

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http://dx.doi.org/10.1007/s00431-003-1196-9DOI Listing
July 2003

Dose-dependent effect of individualized respiratory muscle training in children with Duchenne muscular dystrophy.

Neuromuscul Disord 2002 Aug;12(6):576-83

Laboratoire de Physiologie des Interactions, Service Central de Physiologie Clinique, Hôpital Arnaud de Villeneuve, 34295 Cedex 5, Montpellier, France.

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August 2002