Isabelle Desguerre

Isabelle Desguerre

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Isabelle Desguerre

Isabelle Desguerre

Publications by authors named "Isabelle Desguerre"

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Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor?

Clin Genet 2019 Sep 6;96(3):254-260. Epub 2019 Jun 6.

Reference Centre for Rare Epilepsies, Pediatric Neurology, Necker Enfants-Malades Hospital, Paris, France.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13581
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http://dx.doi.org/10.1111/cge.13581DOI Listing
September 2019

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Authors:
Karim Wahbi Rabah Ben Yaou Estelle Gandjbakhch Frédéric Anselme Thomas Gossios Neal K Lakdawala Caroline Stalens Frédéric Sacher Dominique Babuty Jean-Noel Trochu Ghassan Moubarak Kostantinos Savvatis Raphaël Porcher Pascal Laforêt Abdallah Fayssoil Eloi Marijon Tanya Stojkovic Anthony Béhin Sarah Leonard-Louis Guilhem Sole Fabien Labombarda Pascale Richard Corinne Metay Susana Quijano-Roy Ivana Dabaj Didier Klug Marie-Christine Vantyghem Philippe Chevalier Pierre Ambrosi Emmanuelle Salort Nicolas Sadoul Xavier Waintraub Khadija Chikhaoui Philippe Mabo Nicolas Combes Philippe Maury Jean-Marc Sellal Usha B Tedrow Jonathan M Kalman Jitendra Vohra Alexander F A Androulakis Katja Zeppenfeld Tina Thompson Christine Barnerias Henri-Marc Bécane Eric Bieth Franck Boccara Damien Bonnet Françoise Bouhour Stéphane Boulé Anne-Claire Brehin Françoise Chapon Pascal Cintas Jean-Marie Cuisset Jean-Marc Davy Annachiara De Sandre-Giovannoli Florence Demurger Isabelle Desguerre Klaus Dieterich Julien Durigneux Andoni Echaniz-Laguna Romain Eschalier Ana Ferreiro Xavier Ferrer Christine Francannet Mélanie Fradin Bénédicte Gaborit Arnaud Gay Albert Hagège Arnaud Isapof Isabelle Jeru Raul Juntas Morales Emmanuelle Lagrue Nicolas Lamblin Olivier Lascols Vincent Laugel Arnaud Lazarus France Leturcq Nicolas Levy Armelle Magot Véronique Manel Raphaël Martins Michèle Mayer Sandra Mercier Christophe Meune Maud Michaud Marie-Christine Minot-Myhié Antoine Muchir Aleksandra Nadaj-Pakleza Yann Péréon Philippe Petiot Florence Petit Julien Praline Anne Rollin Pascal Sabouraud Catherine Sarret Stéphane Schaeffer Frederic Taithe Céline Tard Vincent Tiffreau Annick Toutain Camille Vatier Ulrike Walther-Louvier Bruno Eymard Philippe Charron Corinne Vigouroux Gisèle Bonne Saurabh Kumar Perry Elliott Denis Duboc

Circulation 2019 Jul 3;140(4):293-302. Epub 2019 Jun 3.

APHP, Cochin Hospital, Cardiology Department, FILNEMUS, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile de France, Paris-Descartes, Sorbonne Paris Cité University (K.W., D.D.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.118.039410DOI Listing
July 2019

Thoracic circumference: A new outcome measure in spinal muscular atrophy type 1?

Neuromuscul Disord 2019 Jun 14;29(6):415-421. Epub 2019 Mar 14.

Hôpital Necker Enfants Malades, APHP, Paris.

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http://dx.doi.org/10.1016/j.nmd.2019.03.003DOI Listing
June 2019

Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype.

Epilepsia Open 2019 Mar 20;4(1):40-53. Epub 2018 Dec 20.

Reference Centre for Rare Epilepsies Department of Pediatric Neurology Necker Enfants Malades Hospital APHP Paris Descartes University Imagine Institute Paris France.

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http://doi.wiley.com/10.1002/epi4.12281
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http://dx.doi.org/10.1002/epi4.12281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398110PMC
March 2019

[Innovative therapies and organization of care facilities].

Med Sci (Paris) 2019 Mar 3;35 Hors série n° 1:51-53. Epub 2019 Apr 3.

Coordonnateur adulte du Centre de Référence des maladies neuromusculaires de Bordeaux, CHU de Bordeaux, place Amélie Raba Léon, 33000 Bordeaux, France Coordonnateur du Centre de Référence des maladies neuromusculaires Atlantique-Occitanie-Caraïbe, CHU de Bordeaux, place Amélie Raba Léon, 33000 Bordeaux, France.

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http://dx.doi.org/10.1051/medsci/2019027DOI Listing
March 2019

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.

Neurology 2019 02 18;92(8):e852-e865. Epub 2019 Jan 18.

From CHRU de Tours (E.L.), Université François Rabelais de Tours, INSERM U1253, Tours; Neuromuscular Reference Center (C.D., M.D.A., R.G.), AP-HP, Hôpital Pitié-Salpêtrière, Paris; Inserm UMRS872 (M.D.A.), team22, Centre de recherche des Cordeliers, Paris; Service de neurologie pédiatrique (F.A.), pneumologie pédiatrique et médecine infantile, Hôpital de La Timone, Marseille; Service de pédiatrie médicale (N.B.), pôle Femme Enfant, CHU, Caen; Consultation myologie (C.B., I.D.), Cliniques des maladies du développement, Hôpital Necker-Enfants Malades, Paris; Centre hospitalier universitaire de Fort de France (R.B.), unité de neuromyologie, Fort de France; Service de pédiatrie-Neurologie Pôle enfants (C.C.), Hôpital des enfants, CHU Purpan, Toulouse; Service de neurologie pédiatrique (B.C.), pneumologie pédiatrique et médecine infantile, Hôpital de La Timone, Marseille; Service de Neuropédiatrie et Centre de Référence Maladies Neuromusculaires (J.-M.C.), Hôpital Roger-Salengro, Lille; Pôle mère-enfant (J.D.), neuropédiatrie et neurochirgurgie de l'enfant, CHU d'Angers; Service de pédiatrie médicale (C.E.), Hôpital Pellegrin, Bordeaux; Pôle de pédiatrie médico-chirurgicale et génétique Clinique (M.F.), CHU de Rennes-Hôpital Sud, Rennes; Centre de Référence Déficiences Intellectuelles (D. Héron), Département de Génétique et INSERM U975, Groupe hospitalier Pitié-Salpétrière, Paris; Service de neuropédiatrie et pathologie du développement (A.I., M.M.), Hôpital Trousseau, Paris; Service de neurophysiologie enfants et adultes (A.J.-P.), Hôpital F. Mitterrand, Dijon; Centre hospitalier Bretagne Atlantique (H.J.), Vannes; Hôpital de la mère et de l'enfant (C.L.-R.), Dominique Larrey, Limoges; Service de pédiatrie 1 (V.L.), Centre de référence pour les maladies neuromusculaires CENRNEST, Hôpital de Hautepierre-Hôpitaux Universitaires de Strasbourg; CHU Nantes (A.M., Y.P., J.P.-B.), Centre de Référence Maladies Neuromusculaires Nantes-Angers, Hôtel-Dieu, Nantes; Service d'Epileptologie Clinique (V.M.), des Troubles du Sommeil et de Neurologie Fonctionnelle de l'Enfant, Hôpital Femme Mère Enfant, Lyon; Département de pédiatrie et département de génétique médicale (S.P.), Hôpital Morvan, Brest; Département de pédiatrie (S.Q.-R.), Hôpital Raymond Poincaré, Garches; Service d'explorations fonctionnelles pédiatriques (S.R.-M.), Hôpital de Brabois, Vandœuvre-Lès-Nancy; Service de de pédiatrie et de neuropédiatrie (C.R.), Hôpital l'Archet 2, Pôle Femme Mère Enfant, Nice; Département de neuropédiatrie (F.R., U.W.-L.), Hôpital Gui de Chauliac, Montpellier; Service de pédiatrie A-Unité de neurologie pédiatrique (P.S.), American Memorial Hospital, Reims; Centre de référence des neuropathies rares et pathologies neuromusculaires (C.S.), Centre hospitalo-universitaire de Clermont-Ferrand, Clermont-Ferrand; Pôle de Psychiatrie (H.T.), Neurologie et Rééducation Neurologique, CHU Grenoble Alpes, Grenoble; Service de neurologie pédiatrique (C.V.), Pavillon Femme, mère et enfant, Hôpital Charles Nicolle, Rouen; Inserm UMR U955 E10 et Université Paris-Est Créteil (R.G.); Direction de la Recherche et de l'Innovation (D. Hamroun), CHRU de Montpellier; Sorbonne Université (G.B.), INSERM, UMRS974, Neuromuscular Reference Center, AP-HP, Hôpital Pitié-Salpêtrière, Paris; and FILNEMUS (E.L., C.D., M.D.A., F.A., N.B., C.B., R.B., C.C., B.C., J.-M.C., I.D., J.D., C.E., M.F., D. Héron, A.I., A.J.-P., H.J., C.L.-R., V.L., A.M., V.M., M.M., Y.P., J.P.-B., S.P., S.Q.-R., S.R.-M., C.R., F.R., P.S., C.S., H.T., C.V., U.W.-L., R.G., D. Hamroun, G.B.), French Neuromuscular Reference Centers, France.

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http://dx.doi.org/10.1212/WNL.0000000000006948DOI Listing
February 2019

Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation.

Epileptic Disord 2018 Dec;20(6):457-467

Pediatric Neurology Department, Centre de Référence des Épilepsies Rares, Necker Enfants Malades Hospital, Paris, Inserm U1129, Paris; University Paris Descartes; CEA, Gif sur Yvette.

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http://dx.doi.org/10.1684/epd.2018.1009DOI Listing
December 2018

PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings.

Eur J Paediatr Neurol 2018 Sep 22;22(5):854-861. Epub 2018 May 22.

Reference Center for Neuromuscular Diseases, FILNEMUS, Paris, France; Department of Pediatric Neurology, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1016/j.ejpn.2018.05.005DOI Listing
September 2018

Respiratory insight to congenital muscular dystrophies and congenital myopathies and its relation to clinical trial.

Neuromuscul Disord 2018 09 1;28(9):731-740. Epub 2018 Jul 1.

Pediatric noninvasive ventilation and sleep unit, Necker university hospital, AP-HP, 149 rue de Sèvres, 75015 Paris, France; ASV Santé, Gennevilliers, France.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183012
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http://dx.doi.org/10.1016/j.nmd.2018.06.013DOI Listing
September 2018

High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency.

J Med Genet 2018 Jun 22;55(6):378-383. Epub 2018 Jan 22.

Department of Pediatric Radiology, INSERM UMR 1163 and INSERM U1000, Paris Descartes University, Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2017-105094DOI Listing
June 2018

Clinical features and evolution of juvenile myasthenia gravis in a French cohort.

Muscle Nerve 2018 04 11;57(4):603-609. Epub 2017 Oct 11.

APHM Service de Neuropédiatrie, Hôpital La Timone-Enfants, 264, Rue St Pierre Marseille, 13385, cedex 5, France.

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http://dx.doi.org/10.1002/mus.25965DOI Listing
April 2018

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation.

Am J Hum Genet 2018 02;102(2):266-277

UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France; Laboratory of Excellence GR-Ex, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183000
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http://dx.doi.org/10.1016/j.ajhg.2018.01.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985451PMC
February 2018

Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti.

Mol Genet Metab 2017 11 10;122(3):140-144. Epub 2017 Jul 10.

Department of Pediatric Radiology, Hôpital Necker Enfants Malades, AP-HP, 149 rue de Sèvres, 75105 Paris, France; INSERM U1000, 149 rue de Sèvres, 75015 Paris, France; UMR 1163, Institut Imagine, 24 boulevard du Montparnasse, 75015 Paris, France; University René Descartes, PRES Sorbonne Paris Cité, 12 rue de l'Ecole de Médecine, Paris, France.

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http://dx.doi.org/10.1016/j.ymgme.2017.07.001DOI Listing
November 2017

Acute axonal neuropathy subtype of Guillain Barré syndrome in a French pediatric series: Adequate follow-up may require repetitive electrophysiological studies.

Eur J Paediatr Neurol 2017 Nov 17;21(6):891-897. Epub 2017 Jul 17.

Centre de référence des pathologies neuromusculaires "Garches-Necker-Mondor-Hendaye", FILNEMUS, France; Service d'explorations fonctionnelles, Laboratoire de neurophysiologie clinique, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.07.005DOI Listing
November 2017

Sleep in infants with congenital myasthenic syndromes.

Eur J Paediatr Neurol 2017 Nov 21;21(6):842-851. Epub 2017 Jul 21.

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.ejpn.2017.07.010DOI Listing
November 2017

Regional Pediatric Acute Stroke Protocol: Initial Experience During 3 Years and 13 Recanalization Treatments in Children.

Stroke 2017 08 25;48(8):2278-2281. Epub 2017 May 25.

From the Department of Pediatric Intensive Care Unit (L.T., F.L., I.D.), Department of Pediatric Radiology (D.G., O.N.), and French Center for Pediatric Stroke, Pediatric Neurology (M.K.), APHP-Necker-Enfants malades Hospital, Paris, France; Department of Pediatric Neurology (N.M., C.B.), Department of Pediatric Radiology (B.H.), Department of Interventional Radiology (A.O.), and Department of Neurology (C.D.), APHP-Bicêtre Hospital, Le Kremlin-Bicêtre, France; and Department of Neuroradiology (O.N) and Department of Neurology (C.L.), INSERM UMR-S894, Université Paris-Descartes, Sainte-Anne Hospital, France.

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http://dx.doi.org/10.1161/STROKEAHA.117.016591DOI Listing
August 2017

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

[End-of-life in specialized medical pediatrics department: A French national survey].

Arch Pediatr 2017 Mar 26;24(3):231-240. Epub 2017 Jan 26.

Observatoire national de la fin de vie, 35, rue du Plateau, 75019 Paris, France; Axe « Éthique et progrès médical », Inserm CIC 1431 neurosciences intégratives et cliniques, 2, place Saint-Jacques, 25000 Besançon, France; EA 481, université Bourgogne-Franche-Comté, 2, place Saint-Jacques, 25000 Besançon, France; Département douleur-soins palliatifs, CHRU de Besançon, 2, boulevard Fleming, 25030 Besançon cedex, France.

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http://dx.doi.org/10.1016/j.arcped.2017.01.001DOI Listing
March 2017

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

Neurogenetics 2017 01 10;18(1):23-28. Epub 2016 Oct 10.

Department of Pediatric Neurology, Necker Enfants Malades Hospital, APHP, 149 rue de Sèvres, 75015, Paris, France.

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http://dx.doi.org/10.1007/s10048-016-0498-9DOI Listing
January 2017

Unilateral predominance of abnormal movements: A characteristic feature of the pediatric anti-NMDA receptor encephalitis?

Epilepsy Behav Case Rep 2017 18;7:42-44. Epub 2017 Jan 18.

Department of Clinical Neurophysiology, Necker-Enfants Malades Hospital, APHP, Paris, France; INSERM U1129, Paris, France; Paris Descartes University, Sorbonne Paris Cité; CEA, Gif sur Yvette, France.

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http://dx.doi.org/10.1016/j.ebcr.2016.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5357742PMC
January 2017

Patients with dravet syndrome in the era of stiripentol: A French cohort cross-sectional study.

Epilepsy Res 2016 09 28;125:42-6. Epub 2016 May 28.

Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute, 149 Rue de Sevres, 75015 Paris, France; Inserm U1129, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France; CEA, Gif Sur Yvette, France; Paris Descartes University, Department of Pediatrics, Hôpital Necker-Enfants Malades, 149 Rue de Sèvres, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2016.05.012DOI Listing
September 2016

Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations.

Epilepsy Behav 2016 07 12;60:75-80. Epub 2016 May 12.

Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Paris Descartes University, Necker Enfants Malades Hospital, Paris, France; INSERM U1129, Paris, France; Paris Descartes University, France. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2016.04.009DOI Listing
July 2016

Motor neuropathy contributes to crouching in patients with Dravet syndrome.

Neurology 2016 07 17;87(3):277-81. Epub 2016 Jun 17.

From the Departments of Pediatric Neurology (C.G., N.C., C.B., I.D., M.H., C.C., R.N.) and Pediatric Neurophysiology (C.G., N.C., S.Q.-R.), and Reference Center for Rare Epilepsies (N.C., C.C., O.D., R.N.), Necker Enfants Malades Hospital, APHP, Paris; INSERM U1129-Infantile Epilepsies and Brain Plasticity (N.C., C.C., O.D., R.N.), Paris; Paris Descartes (N.C., C.C., O.D., R.N.), Sorbonne Paris Cité University; CEA (N.C., C.C., O.D., R.N.), Gif sur Yvette; Department of Pediatric Neurology (S.Q.-R.), Raymond Poincaré Hospital, APHP, Garches; and Paris Descartes University (C.G., I.D., R.N.), France.

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http://dx.doi.org/10.1212/WNL.0000000000002859DOI Listing
July 2016

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.

Eur J Hum Genet 2016 Mar 8;24(3):455-8. Epub 2015 Jul 8.

Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, INSERM UMR 1163, Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.

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http://www.nature.com/articles/ejhg2015140
Publisher Site
http://dx.doi.org/10.1038/ejhg.2015.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755376PMC
March 2016

Vasculopathy-related clinical and pathological features are associated with severe juvenile dermatomyositis.

Rheumatology (Oxford) 2016 Mar 30;55(3):470-9. Epub 2015 Sep 30.

Department of Pediatric Immunology-Hematology and Rheumatology, Paris-Descartes University, INSERM U 1163, Institut Imagine, AP-HP, Necker Hospital and.

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http://dx.doi.org/10.1093/rheumatology/kev359DOI Listing
March 2016

Skeletal Muscle Microvasculature: A Highly Dynamic Lifeline.

Physiology (Bethesda) 2015 Nov;30(6):417-27

Institut Cochin, INSERM U1016, Paris, France; CNRS 8104, Paris, France; Université Paris Descartes, Paris, France; CGPhyMC, CNRS UMR5534, Villeurbanne, France; and Université Claude Bernard Lyon1, Villeurbanne, France

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http://dx.doi.org/10.1152/physiol.00026.2015DOI Listing
November 2015

[Are respiratory muscle testing helpful to prompt sleep studies in children with neuromuscular disease?].

Med Sci (Paris) 2015 Nov 6;31 Spec No 3:14-7. Epub 2015 Nov 6.

Pneumo-pédiatre, Unité de ventilation non invasive et du sommeil de l'enfant, Hôpital Necker-Enfants malades, Paris, Université Paris Descartes, Inserm U955, Équipe 13, Créteil  

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http://dx.doi.org/10.1051/medsci/201531s304DOI Listing
November 2015

Rare ACTG1 variants in fetal microlissencephaly.

Eur J Med Genet 2015 Aug 16;58(8):416-8. Epub 2015 Jul 16.

Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France; Institut Imagine-INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212150011
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http://dx.doi.org/10.1016/j.ejmg.2015.06.006DOI Listing
August 2015

Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome.

Clin Neurophysiol 2015 Jul 20;126(7):1435-9. Epub 2014 Oct 20.

Laboratoire de Génétique Médicale, INSERM 1112, Faculté de Médecine, F-67085 Strasbourg, France.

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http://dx.doi.org/10.1016/j.clinph.2014.10.014DOI Listing
July 2015

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

Eur J Hum Genet 2015 May 20;23(5):621-7. Epub 2014 Aug 20.

1] INSERM U1163, Hôpital Necker-Enfants Malades, Paris, France [2] Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Paris, France [3] Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2014.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402632PMC
May 2015

Benign intermittent upbeat nystagmus in infancy: a new clinical entity.

Eur J Paediatr Neurol 2015 Mar 31;19(2):262-5. Epub 2014 Dec 31.

COGNition and ACtion Group (COGNAC-G), UMR 8257: CNRS-IRBA-Université Paris Descartes, Sorbonne Paris Cité, France.

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http://dx.doi.org/10.1016/j.ejpn.2014.12.013DOI Listing
March 2015

Cerebral haemorrhagic risk in children with sickle-cell disease.

Dev Med Child Neurol 2015 Feb 30;57(2):187-93. Epub 2014 Aug 30.

Paediatric Neurology, French Centre for Paediatric Stroke, Necker-Enfants Malades University Hospital, APHP and Inserm UMR-S1140, Paris, France.

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http://dx.doi.org/10.1111/dmcn.12571DOI Listing
February 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

The value of respiratory muscle testing in children with neuromuscular disease.

Chest 2015 Feb;147(2):552-559

ASV Santé Gennevilliers, France; Pediatric Noninvasive Ventilation and Sleep Unit, Necker University Hospital, AP-HP, Paris; Paris Descartes University Paris.

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http://dx.doi.org/10.1378/chest.14-0819DOI Listing
February 2015

Imbalanced coagulation profile as a biomarker of migraine in children with sickle cell: Is this a link with cerebral ischemia?

J Pediatr 2014 Sep 9;165(3):645-6. Epub 2014 Jul 9.

Faculté de Pharmacie, Inserm UMR-S1140, Paris, France; Université Paris Descartes, Sorbonne Paris Cite, Paris, France; Hematology Department, Hôpital Européen Georges Pompidou, AP-HP, Paris, France.

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http://dx.doi.org/10.1016/j.jpeds.2014.05.052DOI Listing
September 2014

Transition for patients with epilepsy due to metabolic and mitochondrial disorders.

Epilepsia 2014 Aug;55 Suppl 3:37-40

Departments of Neurology and Pediatrics, Johns Hopkins Hospital, Baltimore, Maryland, U.S.A.

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http://dx.doi.org/10.1111/epi.12709DOI Listing
August 2014

Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors.

J Cell Sci 2014 Jul 7;127(Pt 13):2873-84. Epub 2014 May 7.

Institut National de la Santé et de la recherche Médicale, UMR_S 974, F-75013 Paris, France Sorbonne Universités, UPMC Univ Paris 06, F-75005 Paris, France CNRS, UMR 7215, F-75013 Paris, France Institut de Myologie, Paris F-75013, France

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http://jcs.biologists.org/cgi/doi/10.1242/jcs.144907
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July 2014

Clinical and imaging diagnosis for heredodegenerative diseases.

Handb Clin Neurol 2013 ;111:63-78

Department of Pediatric Radiology, Hôpital Necker - Enfants Malades and Medical Faculty, Université Paris Descartes, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-52891-9.00006-3DOI Listing
April 2014

Diagnostic workup for neuromuscular diseases.

Handb Clin Neurol 2013 ;113:1291-7

Institute of Myology, INSERM U1016, Salpêtrière Hospital, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00001-0DOI Listing
March 2014

Progressive muscular dystrophies.

Handb Clin Neurol 2013 ;113:1343-66

Cochin Institute - Cochin Hospital, INSERM U1016 and Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00006-XDOI Listing
March 2014

Infant's engagement and emotion as predictors of autism or intellectual disability in West syndrome.

Eur Child Adolesc Psychiatry 2014 Mar 1;23(3):143-9. Epub 2013 Jun 1.

Service de Psychiatrie de l'Enfant, AP-HP, Hôpital Necker, 149 rue de Sèvres, 75015, Paris, France,

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http://dx.doi.org/10.1007/s00787-013-0430-xDOI Listing
March 2014

Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

Eur J Med Genet 2014 Jan 1;57(1):15-20. Epub 2013 Nov 1.

Department of Neuropediatrics, Centre de Reference des Epilepsies Rares, Hopital Necker Enfants Malades, Paris Descartes University, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.10.006DOI Listing
January 2014

Early electro-clinical features may contribute to diagnosis of the anti-NMDA receptor encephalitis in children.

Clin Neurophysiol 2013 Dec 2;124(12):2354-61. Epub 2013 Jul 2.

Service de neurologie pédiatrique et maladies métaboliques, hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Service d'explorations fonctionnelles, laboratoire de neurophysiologie clinique, hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM U1016-CNRS8104-Université Paris-Descartes, Faculté de Médecine, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2013.05.023DOI Listing
December 2013

Hemiconvulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children.

Dev Med Child Neurol 2013 Dec 8;55(12):1150-8. Epub 2013 Aug 8.

Reference Centre for Rare Epilepsies, Department of Paediatric Neurology, Hôpital Necker-Enfants malades, APHP, Paris, France; Inserm, U663, Paris, France; University Paris Descartes, CEA, Gif sur Yvette, France.

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http://dx.doi.org/10.1111/dmcn.12233DOI Listing
December 2013

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.

Orphanet J Rare Dis 2013 Sep 23;8:148. Epub 2013 Sep 23.

Centre de Référence des Maladies Héréditaires du Métabolisme, Hôpital Necker-Enfants Malades, APHP, Université Paris Descartes, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-8-148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4016503PMC
September 2013

[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

Early diffusion-weighted magnetic resonance imaging in children after cardiac arrest may provide valuable prognostic information on clinical outcome.

Intensive Care Med 2013 Jul 30;39(7):1306-12. Epub 2013 Apr 30.

Service de Réanimation Pédiatrique, Hôpital Necker Enfants-Malades, Assistance Publique, Hôpitaux de Paris, Faculté de Médecine, Université Paris-Descartes, 149, Rue de Sèvres, 75743, Paris Cedex 15, France.

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http://link.springer.com/content/pdf/10.1007/s00134-013-2930
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July 2013

Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy.

J Child Neurol 2013 Jun 12;28(6):787-90. Epub 2012 Jul 12.

Service de Neurologie Pédiatrique et Maladies métaboliques, hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris-Descartes, Paris, France.

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http://journals.sagepub.com/doi/10.1177/0883073812450209
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June 2013

Unusual muscular injury in an infant with severe H1N1 infection.

Pediatr Neurol 2012 Jul;47(1):51-4

Service de Réanimation Polyvalente et Néonatale, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Faculté de Médecine, Université Paris-Descartes, Paris, France.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.04.006DOI Listing
July 2012

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.

J Inherit Metab Dis 2012 Jan 10;35(1):151-7. Epub 2011 Jun 10.

Reference Center for Inherited Metabolic Disorders (MaMEA), Necker-Enfants Malades Hospital, Paris Descartes University, 149 Rue de Sèvres, 75743 Paris Cedex, France.

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http://dx.doi.org/10.1007/s10545-011-9358-9DOI Listing
January 2012

Ketogenic diet also benefits Dravet syndrome patients receiving stiripentol: a prospective pilot study.

Epilepsia 2011 Jul 13;52(7):e54-7. Epub 2011 May 13.

Department of Neuropediatrics, National Referral Center for Rare Epilepsies, Necker-Enfants Malades Hospital, 149 rue de Sévres, Paris, France.

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http://dx.doi.org/10.1111/j.1528-1167.2011.03107.xDOI Listing
July 2011

Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care.

Eur J Endocrinol 2011 Feb 23;164(2):309-14. Epub 2010 Nov 23.

INSERM U845 Pediatric Endocrinology and Gynecology, Centre des Maladies Endocriniennes Rares de la Croissance, AP-HP, Necker-Enfants Malades Hospital, Université Paris Descartes, 75743 Paris, France.

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http://dx.doi.org/10.1530/EJE-10-0679DOI Listing
February 2011