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Publications Authored by Brigitte Estournet | PubFacts
Brigitte Estournet

Brigitte Estournet

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Publications by authors named "Brigitte Estournet"

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30Publications

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Diaphragmatic dysfunction in SEPN1-related myopathy.

Neuromuscul Disord 2017 Aug 26;27(8):747-755. Epub 2017 Apr 26.

AP-HP, Hôpital Necker-Enfants Malades, Pediatric noninvasive ventilation and sleep unit, Paris, France; INSERM U955, Equipe 13, Créteil, France; Paris Descartes University, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.04.010DOI Listing
August 2017

Effect of Salbutamol on Respiratory Muscle Strength in Spinal Muscular Atrophy.

Pediatr Neurol 2017 Aug 20;73:78-87.e1. Epub 2017 Apr 20.

AP-HP, Hôpital Raymond Poincaré, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Pôle pédiatrique, Service de Pédiatrie, Garches, France; Centre de Référence Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye (GNMH), Garches, France; Réseau National de Maladies Neuromusculaires FILNEMUS, Garches, France; INSERM U1179, Université Versailles Saint-Quentin (UVSQ), UFR des sciences de la santé Simone Veil, Montigny, France. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.04.013DOI Listing
August 2017

Pediatric laminopathies: Whole-body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy.

Muscle Nerve 2016 08 22;54(2):192-202. Epub 2016 Feb 22.

Assistance Publique des Hôpitaux de Paris, Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Université de Versailles-St Quentin, U1179 UVSQ-INSERM, France.

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http://dx.doi.org/10.1002/mus.25018DOI Listing
August 2016

Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.

Muscle Nerve 2015 Nov 14;52(5):728-35. Epub 2015 Sep 14.

Assistance Publique des Hôpitaux de Paris (AP-HP), Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, France.

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http://dx.doi.org/10.1002/mus.24634DOI Listing
November 2015

Orthopedic Management of Scoliosis by Garches Brace and Spinal Fusion in SMA Type 2 Children.

J Neuromuscul Dis 2015 Nov;2(4):453-462

Assistance Publique des Hôpitaux de Paris (AP-HP), Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, France.

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http://www.medra.org/servlet/aliasResolver?alias=iospress&am
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http://dx.doi.org/10.3233/JND-150084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240608PMC
November 2015

Congenital myasthenic syndromes.

Handb Clin Neurol 2013 ;113:1469-80

Reference Center for Neuromuscular Diseases, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00016-2DOI Listing
March 2014

[What a tracheostomy changes in a child with a neuromuscular disease].

Rech Soins Infirm 2013 Sep(114):46-57

Hôpital R. Poincaré, Pôle pédiatrie, Garches, Université Paris-Descartes, Laboratoire d'Ethique Médicale et Médecine Légale EA 4569.

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September 2013

Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations.

Neuromuscul Disord 2012 Oct;22 Suppl 2:S137-47

AP-HP, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Pôle neuro-locomoteur, Hôpital R. Poincaré. Service d'imagerie médicale, Groupe Rachis Garches, F-92380 Garches, France.

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http://linkinghub.elsevier.com/retrieve/pii/S096089661200529
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http://dx.doi.org/10.1016/j.nmd.2012.06.347DOI Listing
October 2012

Riluzole pharmacokinetics in young patients with spinal muscular atrophy.

Br J Clin Pharmacol 2011 Mar;71(3):403-10

Université d'Angers, UFR médecine, Angers cedex, F-49045 CHU d'Angers, Service Pharmacologie-Toxicologie, Angers cedex 09, France.

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http://dx.doi.org/10.1111/j.1365-2125.2010.03843.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3045549PMC
March 2011

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

Ann Neurol 2008 Aug;64(2):177-86

Assistance Publique-Hôpitaux de Paris, Service de Pédiatrie, Hôpital Universitaire Raymond Poincaré, Centre National de Référence des Maladies Neuromusculaires Garches-Necker-Mondor-Hendaye, Garches, France.

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http://dx.doi.org/10.1002/ana.21417DOI Listing
August 2008

Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.

Neuromuscul Disord 2008 Jan 14;18(1):45-51. Epub 2007 Sep 14.

Glycobiology Research Group, Tokyo Metropolitan Institute of Gerontology, Foundation for Research on Aging and Promotion of Human Welfare, Tokyo, Japan.

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http://dx.doi.org/10.1016/j.nmd.2007.08.002DOI Listing
January 2008

Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.

Brain Dev 2006 May 20;28(4):232-42. Epub 2005 Dec 20.

Unité de Neurologie Pédiatrique, Service de Pédiatrie, Rééducation et Réanimation Neurorespiratoire, Hôpital Raymond Poincaré, 92380, Garches, France.

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http://dx.doi.org/10.1016/j.braindev.2005.08.003DOI Listing
May 2006

SEPN1: associated with congenital fiber-type disproportion and insulin resistance.

Ann Neurol 2006 Mar;59(3):546-52

Institute for Neuromuscular Research, Children's Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.

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http://doi.wiley.com/10.1002/ana.20761
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http://dx.doi.org/10.1002/ana.20761DOI Listing
March 2006

EMG and nerve conduction studies in children with congenital muscular dystrophy.

Muscle Nerve 2004 Feb;29(2):292-9

Unité de Neurophysiologie, Hôpital d'Enfants Armand-Trousseau, 28 avenue Arnold Netter, 75571 Paris, France.

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http://dx.doi.org/10.1002/mus.10544DOI Listing
February 2004

Phenotypic spectrum associated with mutations in the fukutin-related protein gene.

Ann Neurol 2003 Apr;53(4):537-42

Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, London, United Kingdom.

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http://dx.doi.org/10.1002/ana.10559DOI Listing
April 2003

Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency.

Neuromuscul Disord 2002 Jun;12(5):466-75

Service de Pédiatrie, Rééducation et Réanimation Neurorespiratoire, Hôpital Raymond-Poincaré, Garches, France.

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June 2002