Susana Quijano-Roy

Susana Quijano-Roy

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Susana Quijano-Roy

Publications by authors named "Susana Quijano-Roy"

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The Utility and Practice of Electrodiagnostic Testing in the Pediatric Population: An AANEM Consensus Statement.

Muscle Nerve 2019 Nov 14. Epub 2019 Nov 14.

Centre de Référence Maladies Neuromusculaires, Service de Neurologie, Réanimation et RéeducationPédiatriques, Hôpital Raymond Poincaré, Garches, France.

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http://dx.doi.org/10.1002/mus.26752DOI Listing
November 2019

MYO-MRI diagnostic protocols in genetic myopathies.

Neuromuscul Disord 2019 Sep 16. Epub 2019 Sep 16.

Robert-Yves Carlier, Service de Radiologie et Imagerie Médicale Hôpital Raymond Poincaré, Hôpitaux de Paris (AP-HP), Garches, France; Centre de référence des maladies neuro-musculaires Paris-Nord-ESt, Filenemus, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.08.011DOI 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

Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests.

Muscle Nerve 2019 04 10;59(4):436-444. Epub 2019 Jan 10.

Neuromuscular Unit, Department of Neurology and Neurosurgery, University of Chile Clinical Hospital.

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http://dx.doi.org/10.1002/mus.26403DOI Listing
April 2019

Myoimaging in Congenital Myopathies.

Semin Pediatr Neurol 2019 Apr 27;29:30-43. Epub 2019 Mar 27.

Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpitaux Universitaires Paris-Ile-de-France Ouest, Pôle neuro-locomoteur, Raymond Poincaré Teaching Hospital, Garches, France; INSERM U 1179, University of Versailles Saint-Quentin-en-Yvelines (UVSQ) Paris- Saclay, France; Unit of Neuromuscular Disorders, Departments of Pediatric Neurology, Intensive Care and Rehabilitation Unité de Maladies Neuromusculaires, Service de Neurologie et Réanimation Pédiatriques, Hôpital Raymond Poincaré, Garches, France. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2019.03.019DOI Listing
April 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

Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.

Eur Radiol 2018 Dec 25;28(12):5293-5303. Epub 2018 May 25.

Assistance Publique des Hôpitaux de Paris (AP-HP), Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, France.

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http://dx.doi.org/10.1007/s00330-018-5472-5DOI Listing
December 2018

Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.

Muscle Nerve 2018 12 18;58(6):812-817. Epub 2018 Nov 18.

APHP, Neuromuscular Disorders Unit, Pediatric Department, CHU Paris IdF Ouest - Hôpital Raymond Poincaré, Paris Saclay Universities, UVSQ University of Versailles, UMR 1179 INSERM, Garches, France.

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http://doi.wiley.com/10.1002/mus.26312
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http://dx.doi.org/10.1002/mus.26312DOI 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

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

[Tracheotomy and myopathy: history of an encounter].

Med Sci (Paris) 2017 Nov 15;33 Hors série n°1:11-15. Epub 2017 Nov 15.

Service de Pédiatrie, Hôpital Raymond Poincaré, Garches. Centre de Référence Maladies Neuromusculaires, GNMH, Garches, France.

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http://dx.doi.org/10.1051/medsci/201733s103DOI Listing
November 2017

Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care.

Cardiol Young 2017 Aug 12;27(6):1076-1082. Epub 2016 Dec 12.

6Sorbonne Universités,UPMC Univ Paris 06,Inserm UMRS974,CNRS FRE3617,Center for Research in Myology,Paris,France.

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https://www.cambridge.org/core/product/identifier/S104795111
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http://dx.doi.org/10.1017/S1047951116002079DOI 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

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

[Diagnostic orientation of « Rigid spine » familial case with whole body muscle MRI].

Med Sci (Paris) 2016 Nov 21;32 Hors série n°2:14-16. Epub 2016 Nov 21.

Pôle Pédiatrie, Hôpital Raymond Poincaré, Garches, France - Centre de Référence Maladies Neuromusculaires GNMH, FILNEMUS.

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http://dx.doi.org/10.1051/medsci/201632s205DOI Listing
November 2016

A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle.

Neuromuscul Disord 2016 10 25;26(10):681-687. Epub 2016 Jul 25.

Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GHU La Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France; Filière Nationale de Maladies Neuromusculaires (FILNEMUS), Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.07.005DOI Listing
October 2016

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

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

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

[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

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

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

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

Muscle magnetic resonance imaging: a new diagnostic tool with promising avenues in therapeutic trials.

Neuropediatrics 2014 Oct 3;45(5):273-4. Epub 2014 Sep 3.

Department of Radiology, Garches Neuromuscular Center (GNMH), Raymond Poincaré University Hospital (UVSQ), Garches, France.

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http://dx.doi.org/10.1055/s-0034-1389894DOI Listing
October 2014

The value of respiratory muscle testing in a child with congenital muscular dystrophy.

Respirol Case Rep 2014 Sep 30;2(3):95-8. Epub 2014 Jun 30.

AP-HP, Pediatric Noninvasive Ventilation and Sleep Unit, Hôpital Necker Paris, France ; U 955, Equipe 13, INSERM Créteil, France ; Paris Descartes University Paris, France.

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http://dx.doi.org/10.1002/rcr2.61DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184737PMC
September 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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http://dx.doi.org/10.1242/jcs.144907DOI Listing
July 2014

Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies.

Handb Clin Neurol 2013 ;113:1367-76

Inserm, U974; Université Pierre et Marie Curie - Paris 6, UM 76; CNRS, UMR 7215; Institut de Myologie, and AP-HP - U.F. Cardiogénétique et Myogénétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00007-1DOI Listing
March 2014

Approach to the diagnosis of congenital myopathies.

Neuromuscul Disord 2014 Feb 18;24(2):97-116. Epub 2013 Nov 18.

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, Bethesda, MD, United States.

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http://www.joshuafrase.org/uploads/2011-Diagnosis-Congenital
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http://linkinghub.elsevier.com/retrieve/pii/S096089661300994
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http://dx.doi.org/10.1016/j.nmd.2013.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5257342PMC
February 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

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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http://dx.doi.org/10.1177/0883073812450209DOI Listing
June 2013

Sleep-disordered breathing in children with congenital muscular dystrophies.

Eur J Paediatr Neurol 2012 Nov 16;16(6):619-24. Epub 2012 Mar 16.

Paediatric Neurology Unit, Paediatric Department, Raymond Poincare Hospital, Assistance Publique - Hôpitaux de Paris, University of Versailles-St-Quentin, France.

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http://dx.doi.org/10.1016/j.ejpn.2012.02.009DOI Listing
November 2012

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

Whole body muscle MRI protocol: pattern recognition in early onset NM disorders.

Neuromuscul Disord 2012 Oct;22 Suppl 2:S68-84

AP-HP, Service de Pédiatrie, Hôpital Raymond Poincaré, Garches, France.

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http://dx.doi.org/10.1016/j.nmd.2012.08.003DOI Listing
October 2012

Muscle imaging in congenital myopathies.

Semin Pediatr Neurol 2011 Dec;18(4):221-9

APHP, Service de Pédiatrie, Hôpital Universitaire R. Poincaré, Garches, France.

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http://dx.doi.org/10.1016/j.spen.2011.10.003DOI Listing
December 2011

POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.

Eur J Med Genet 2009 Jul-Aug;52(4):201-6. Epub 2008 Dec 27.

Inserm, U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, UPMC University Paris 06, UMR_S582, IFR14, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2008.12.004DOI Listing
November 2009

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

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy.

Ann Neurol 2006 Jan;59(1):190-5

Department of Medical and Surgical Critical Care and Center for the Study of Molecular and Clinical Level of Chronic, Degenerative, and Neoplastic Diseases to Develop Novel Therapies, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1002/ana.20705DOI Listing
January 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

Benefit of IVIg for long-standing ataxic sensory neuronopathy with Sjögren's syndrome.

Neurology 2003 Sep;61(6):873; author reply 873

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September 2003

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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http://dx.doi.org/10.1016/s0960-8966(01)00331-5DOI Listing
June 2002