Jean-Marie Cuisset

Jean-Marie Cuisset

UNVERIFIED PROFILE

Are you Jean-Marie Cuisset?   Register this Author

Register author
Jean-Marie Cuisset

Jean-Marie Cuisset

Publications by authors named "Jean-Marie Cuisset"

Are you Jean-Marie Cuisset?   Register this Author

68Publications

3047Reads

7Profile Views

Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.

Hum Mutat 2020 Jan 15;41(1):17-37. Epub 2019 Sep 15.

Department of translational medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23899DOI Listing
January 2020

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.).

View Article

Download full-text PDF

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

X-linked myotubular myopathy: A prospective international natural history study.

Neurology 2019 04 22;92(16):e1852-e1867. Epub 2019 Mar 22.

From I-Motion (M.A., C.L., T.G., E.G., V.C., L.S.), Institute of Myology, Paris, France; Paediatric Neurology and Neuromuscular Center (U.S., A.G.), University of Essen, Germany; Unit of Neuromuscular and Neurodegenerative Disorders (A. D'Amico), Department of Neurosciences, Bambino Gesu Children's Research Hospital IRCCS, Rome, Italy; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.), Hospital for Sick Children, Toronto, Canada; Boston Children's Hospital (B.T.D.), MA; Centre de Référence Neuromusculaire (A. Daron), CHR La Citadelle, Liège, Belgium; UCI Pediatrica (A.H.), Hospital Puerta del Mar, Cadiz, Spain; Centre de Référence Maladies Neuromusculaires Adulte (C.d.L.), Hôpital de la Croix-Rousse, Hospices Civils de Lyon; Service de Réanimation Polyvalente (J.-M.A.), Hôpital Sainte Musse, Toulon; Centre de Référence des Maladies Neuromusculaires d'Ile de France-Nord et Est (M.M.), Hôpital Armand Trousseau, Paris; Service de Neuropédiatrie Hôpital Roger Salengro (J.-M.C.), CHRU, Lille; Service de Rééducation Pédiatrique "L'Escale" (C.V., S.F.), Hôpital Mère Enfant, CHU-Lyon, France; CeRCa (R.B.), Hôpital Pierre-Zobda-Quitman, CHU de Martinique, Fort-de-France, Martinique; Laboratoire Diagnostic Génétique (V.B.), Nouvel Hôpital Civil, Strasbourg; Genethon (A.B.-B.), UMR S951 Inserm, Univ Evry, Université Paris Saclay, Evry; Neuromuscular Investigation Center (J.-Y.H.), Institute of Myology, Paris, France; and Valerion Therapeutics (H.L.), Concord, MA.

View Article

Download full-text PDF

Source
http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000007319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550499PMC
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2017-104956DOI Listing
June 2018

Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts.

Mol Genet Metab 2018 04 16;123(4):463-471. Epub 2018 Feb 16.

Department of Biochemistry and Molecular Biology, Laboratory of Hormonology, Metabolism-Nutrition & Oncology (HMNO), Center of Biology and Pathology (CBP) Pierre-Marie Degand, CHRU, Lille, France; Inserm, Lille, France; Université de Lyon, INSERM U1060 CarMeN, Lyon, France.; Univ. Lille, RADEME - Maladies RAres du Développement et du Métabolisme : du phénotype au génotype et à la Fonction, Lille, EA 7364, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2018.02.010DOI Listing
April 2018

Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy.

Parkinsonism Relat Disord 2017 Dec 19;45:85-89. Epub 2017 Sep 19.

Univ. Lille, Inserm, CHU Lille, U1171 - Degenerative & vascular cognitive disorders, F-59000, Lille, France; CHU Lille, Service de Neurologie et Pathologies du Mouvement, Hôpital Roger Salengro, F-59000, Lille, France; CHU Lille, Service de Pharmacologie médicale, Faculté de Médecine, F-59045, Lille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.parkreldis.2017.09.014DOI Listing
December 2017

A fast method for high resolution oxymetry study of skeletal muscle mitochondrial respiratory chain complexes.

Anal Biochem 2017 07 26;528:57-62. Epub 2017 Apr 26.

Department of Biochemistry and Molecular Biology, Laboratory of Hormonology, Metabolism-Nutrition & Oncology (HMNO), Center of Biology and Pathology (CBP) Pierre-Marie Degand, CHRU Lille, France; Univ. Lille, EA 7364 - RADEME - Maladies RAres du Développement et du Métabolisme: du phénotype au génotype et à la Fonction, Lille, France; Inserm, Lille, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ab.2017.04.015DOI Listing
July 2017

Assessment of Procedural Pain in Children Using Analgesia Nociception Index: A Pilot Study.

Clin J Pain 2016 12;32(12):1100-1104

*Department of Pediatric Neurology, University Hospital of Lille †CIC-IT 1403, University Hospital of Lille §Department of Anesthesiology and Intensive Care, University Hospital of Lille ‡UPRES-EA4489, Faculty of Medicine, Lille I & Lille II Universities ∥UPRES-EA2694, Faculty of Medicine, Lille II University, Lille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/AJP.0000000000000360DOI Listing
December 2016

Doubling diet fat on sugar ratio in children with mitochondrial OXPHOS disorders: Effects of a randomized trial on resting energy expenditure, diet induced thermogenesis and body composition.

Clin Nutr 2016 12 8;35(6):1414-1422. Epub 2016 Apr 8.

Reference Center for Inherited Metabolic Diseases in Child and Adulthood, Lille University Children's Hospital Jeanne de Flandre, and RADEME EA 7364, Lille University, F-59000 Lille, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clnu.2016.03.015DOI Listing
December 2016

21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders.

Eur J Med Genet 2015 Jan 20;58(1):44-6. Epub 2014 Nov 20.

Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU Lille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.11.004DOI Listing
January 2015

Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe.

J Neurol 2014 Jan 27;261(1):152-63. Epub 2013 Oct 27.

MRC Centre for Neuromuscular Diseases at Newcastle, Institute of Genetic Medicine, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK,

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007%2Fs00415-013-71
Web Search
http://www.rare-diseases.eu/wp-content/uploads/2013/08/41_t2
Web Search
http://link.springer.com/10.1007/s00415-013-7154-1
Publisher Site
http://dx.doi.org/10.1007/s00415-013-7154-1DOI Listing
January 2014

The lung is involved in juvenile dermatomyositis.

Pediatr Pulmonol 2013 Oct 31;48(10):1016-25. Epub 2012 Dec 31.

Unité de Pneumologie et Allergologie, Pôle de Pédiatrie, Centre de Compétence des Maladies Respiratoires Rares de L'enfant, Hôpital Jeanne de Flandre et Université Lille 2, CHRU de Lille, Lille, France; Service de Pédiatrie, Pavillon Médico-Chirurgical de Pédiatrie, Hôpital Victor Provo, 59056 Roubaix Cedex 1, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ppul.22742DOI Listing
October 2013

Five year follow-up of two sisters with type II sialidosis: systemic and ophthalmic findings including OCT analysis.

J Pediatr Ophthalmol Strabismus 2013 Jul 2;50 Online:e33-6. Epub 2013 Jul 2.

Service d’Exploration Fonctionnelle de la Vision et Neuro Ophtalmologie, Hopital Roger Salengro, Lille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3928/01913913-20130625-02DOI Listing
July 2013

Effect of glutamine on glucose metabolism in children with Duchenne muscular dystrophy.

Clin Nutr 2013 Jun 14;32(3):386-90. Epub 2012 Sep 14.

INSERM, Centre d'Investigation Clinique 802, Poitiers F-86000, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clnu.2012.08.019DOI Listing
June 2013

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

Natural evolution of weight status in Duchenne muscular dystrophy: a retrospective audit.

Br J Nutr 2011 May 28;105(10):1486-91. Epub 2011 Jan 28.

Service de Gastroentérologie, Hépatologie et Nutrition Pédiatrique, Hôpital Jeanne de Flandre, Centre Hospitalier Régional et Universitaire, Lille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/S0007114510005180DOI Listing
May 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.

View Article

Download full-text PDF

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

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array.

Eur J Med Genet 2008 Mar-Apr;51(2):172-7. Epub 2008 Jan 14.

Laboratoires de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU de Lille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2007.12.002DOI Listing
June 2008

Unusual clinical features in infantile Spinal Muscular Atrophies.

Brain Dev 2008 Mar 4;30(3):169-78. Epub 2007 Sep 4.

Pediatric Neurology Department, Lille University Hospital, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2007.07.008DOI Listing
March 2008

Epilepsia partialis continua and defects in the mitochondrial respiratory chain.

Epilepsy Res 2008 Jan 26;78(1):1-6. Epub 2007 Nov 26.

Department of Pediatric Neurology, Lille's University Hospital and Lille Medical School, Lille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.eplepsyres.2007.10.001DOI Listing
January 2008

French general practitioners' management of children's migraine headaches.

Headache 2007 Oct;47(9):1282-92

Department of Child Neurology, Pediatric Clinic, University Hospital, Lille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1526-4610.2006.00720.xDOI Listing
October 2007

Huntington's disease presenting as a depressive disorder with psychotic features.

J Am Acad Child Adolesc Psychiatry 2007 Mar;46(3):307-308

Child and Adolescent Psychiatry Department, University Hospital Centre, Lille, France; Neuropediatrics Department, University Hospital Centre, Lille, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/chi.0b013e31802ed8c9DOI Listing
March 2007

Oral glutamine and amino acid supplementation inhibit whole-body protein degradation in children with Duchenne muscular dystrophy.

Am J Clin Nutr 2006 Apr;83(4):823-8

Centre d'Investigation Clinique 9202 INSERM, Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/ajcn/83.4.823DOI Listing
April 2006

Estimating body composition in children with Duchenne muscular dystrophy: comparison of bioelectrical impedance analysis and skinfold-thickness measurement.

Am J Clin Nutr 2006 Jan;83(1):65-9

INSERM Centre D'Investigation Clinique 9202, Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/ajcn/83.1.65DOI Listing
January 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.

View Article

Download full-text PDF

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

Efficacy and tolerance of gastrostomy feeding in pediatric forms of neuromuscular diseases.

JPEN J Parenter Enteral Nutr 2002 Sep-Oct;26(5):298-304

Department of Nutrition, University Hospital and Medical School, Lille, France.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1177/0148607102026005298
Publisher Site
http://dx.doi.org/10.1177/0148607102026005298DOI Listing
March 2003