– Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen.
Marta Gómez-García de la Banda, Alessandro Amaddeo, Sonia Khirani, Sandrine Pruvost, Christine Barnerias, Ivana Dabaj, Audrey Bénézit, Julien Durigneux, Robert Y Carlier, Isabelle Desguerre, Susana Quijano-Roy, Brigitte Fauroux
Pediatr Pulmonol, 2021 Jan, PMID: 33118682 DOI: 10.1002/ppul.25142

– From Diagnosis to Prognosis: Revisiting the Meaning of Muscle ISG15 Overexpression in Juvenile Inflammatory Myopathies.
Cyrielle Hou, Chloé Durrleman, Baptiste Periou, Christine Barnerias, Christine Bodemer, Isabelle Desguerre, Pierre Quartier, Isabelle Melki, Gillian I Rice, Mathieu P Rodero, Jean-Luc Charuel, Fréderic Relaix, Brigitte Bader-Meunier, FrançoisJérôme Authier, Cyril Gitiaux
Arthritis Rheumatol, 2021 Jun, PMID: 33314705 DOI: 10.1002/art.41625

– Editorial: Pediatric Long-Term Non-invasive Ventilation.
Brigitte Fauroux , Renato Cutrera
Front Pediatr, 2021 Feb 22, PMID: 33692978 PMCID: PMC7937638 DOI: 10.3389/fped.2021.654578

– Paediatric long term continuous positive airway pressure and noninvasive ventilation in France: A cross-sectional study.
Brigitte Fauroux, Sonia Khirani, Alessandro Amaddeo, Bruno Massenavette, Priscille Bierme, Jessica Taytard, Nathalie Stremler, Melisande Baravalle-Einaudi, Julie Mazenq et al.
Respir Med, 2021 May, PMID: 33848922 DOI: 10.1016/j.rmed.2021.106388

– Sleep in preadolescents and adolescents with chronic disorders.
Shannon Pierson, Sonia Khirani, Samira Touil, Damien Leger, Alessandro Amaddeo, Lisa Ouss, Brigitte Fauroux
Minerva Pediatr (Torino), 2021 Jul 15, PMID: 34264048 DOI: 10.23736/S2724-5276.21.06492-2

– Postnatal Diagnostic Workup in Children With Arthrogryposis: A Series of 82 Patients.
Judith Chareyre, Antoine Neuraz, Alina Badina, Christine Barnerias, Marie Hully, Elsa Kermorvant-Duchemin, Elise Leroy-Terquem, Robert Y Carlier, Judith Melki, Isabelle Desguerre, Cyril Gitiaux
J Child Neurol, 2021 Oct, PMID: 34410827 DOI: 10.1177/08830738211022972

– Inflammatory myopathies in childhood.
Werner Stenzel, Hans-Hilmar Goebel, Brigitte Bader-Meunier, Cyril Gitiaux
Neuromuscul Disord, 2021 Oct, PMID: 34736626 DOI: 10.1016/j.nmd.2021.08.007

– De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes.
Dana Jaber, Cyril Gitiaux, Sophie Blesson, Florent Marguet, David Buard, Maritzaida Varela Salgado, Anna Kaminska, Julien Saada, Catherine Fallet-Bianco, Jelena Martinovic, Annie Laquerriere, Judith Melki
J Med Genet, 2021 Nov, PMID: 32928894 PMCID: PMC8551978 DOI: 10.1136/jmedgenet-2020-107166

– JAK inhibitors are effective in a subset of patients with juvenile dermatomyositis: a monocentric retrospective study.
Tom Le Voyer, Cyril Gitiaux, François-Jérôme Authier, Christine Bodemer, Isabelle Melki, Pierre Quartier, Florence Aeschlimann, Arnaud Isapof, Jean Philippe Herbeuval, Vincent Bondet, Jean-Luc Charuel, Marie-Louise Frémond, Darragh Duffy, Mathieu P Rodero, Brigitte Bader-Meunier
Rheumatology (Oxford), 2021 Dec 1, PMID: 33576769 DOI: 10.1093/rheumatology/keab116

– Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data.
Raphaël Porcher, Isabelle Desguerre, Helge Amthor, Brigitte Chabrol, Frédérique Audic, François Rivier, Arnaud Isapof, Vincent Tiffreau, Emmanuelle Campana-Salort, France Leturcq et al.
Eur Heart J, 2021 May 21, PMID: 33748842 DOI: 10.1093/eurheartj/ehab054

– Respiratory management of children with spinal muscular atrophy (SMA).
B Fauroux, L Griffon, A Amaddeo, N Stremler, J Mazenq, S Khirani, M Baravalle-Einaudi
Arch Pediatr, 2020 Dec, PMID: 33357594 DOI: 10.1016/S0929-693X(20)30274-8

– Non-invasive Ventilation in Children With Neuromuscular Disease.
Brigitte Fauroux, Sonia Khirani, Lucie Griffon, Theo Teng, Agathe Lanzeray, Alessandro Amaddeo
Front Pediatr, 2020 Nov 16, PMID: 33330262 PMCID: PMC7717941 DOI: 10.3389/fped.2020.00482

– Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology.
Cyril Gitiaux, Vincent Bondet, Nassima Bekaddour, Patrick Nusbaum, Arnaud Hubas, Isabelle Melki, Christine Bodemer, Pierre Quartier, Isabelle Desguerre, Yanick J Crow, Jean-Philippe Herbeuval, Darragh Duffy, Brigitte Bader Meunier, Mathieu P Rodero
Rheumatology (Oxford), 2020 May 1, PMID: 31665500 DOI: 10.1093/rheumatology/kez508

– Ethical aspects in the care of a child with infantile spinal muscular atrophy (SMA).
B Chabrol, I Desguerre
Arch Pediatr, 2020 Dec, PMID: 33357599 DOI: 10.1016/S0929-693X(20)30278-5

– Spinal muscular atrophy (SMA) type I (Werdnig-Hoffmann disease).
F Audic, C Barnerias
Arch Pediatr, 2020 Dec, PMID: 33357591 DOI: 10.1016/S0929-693X(20)30271-2

– Infantile spinal muscular atrophy (SMA).
B Chabrol, I Desguerre
Arch Pediatr, 2020 Dec, PMID: 33357590 DOI: 10.1016/S0929-693X(20)30268-2

– Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency.
Giulia Barcia, Sonia Khirani, Alessandro Amaddeo, Zahra Assouline, Alessandra Pennisi, Nathalie Boddaert, Norma Romero, Isabelle Desguerre, Manuel Schiff, Agnès Rötig, Claude Besmond, Jean-Paul Bonnefont, Arnold Munnich, Brigitte Fauroux
Neuromuscul Disord, 2020 Jul, PMID: 32654952 DOI: 10.1016/j.nmd.2020.06.002

– Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.
Frédérique Audic, Marta Gomez Garcia de la Banda, Delphine Bernoux, Paola Ramirez-Garcia, Julien Durigneux, Christine Barnerias, Arnaud Isapof, Jean-Marie Cuisset, Claude Cances, Christian Richelme, Carole Vuillerot, Vincent Laugel, Juliette Ropars, Cécilia Altuzarra, Caroline Espil-Taris, Ulrike Walther-Louvier, Pascal Sabouraud, Mondher Chouchane, Catherine Vanhulle, Valérie Trommsdorff, Anne Pervillé, Hervé Testard, Emmanuelle Lagrue, Catherine Sarret, Anne-Laude Avice, Pierre Beze-Beyrie, Vanessa Pauly, Susana Quijano-Roy, Brigitte Chabrol & Isabelle Desguerre
Orphanet J Rare Dis, 2020 Jun 12, PMID: 32532349 PMCID: PMC7291731 DOI: 10.1186/s13023-020-01414-8

– Severe Acute Flaccid Myelitis Associated With Enterovirus in Children: Two Phenotypes for Two Evolution Profiles?
Melodie Aubart, Cyril Gitiaux, Charles Joris Roux, Raphael Levy, Isabelle Schuffenecker, Audrey Mirand, Nathalie Bach, Florence Moulin, Jean Bergounioux, Marianne Leruez-Ville, Flore Rozenberg, Delphine Sterlin, Lucile Musset, Denise Antona, Nathalie Boddaert, Shen Ying Zhang, Manoelle Kossorotoff, Isabelle Desguerre
Front Neurol, 2020 Apr 28, PMID: 32411086 PMCID: PMC7198806 DOI: 10.3389/fneur.2020.00343

– Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents » Reports.
Marie Hully, Christine Barnerias, Delphine Chabalier, Sophie Le Guen, Virginie Germa, Elodie Deladriere, Catherine Vanhulle, Jean-Marie Cuisset, Brigitte Chabrol, Claude Cances, Carole Vuillerot, Caroline Espil, Michele Mayer, Marie-Christine Nougues, Pascal Sabouraud, Jeremie Lefranc, Vincent Laugel, Francois Rivier, Ulrike Walther Louvier, Julien Durigneux, Sylvia Napuri, Catherine Sarret, Michel Renouil, Alice Masurel, Marcel-Louis Viallard, Isabelle Desguerre
Front Pediatr, 2020 Feb 18, PMID: 32133329 PMCID: PMC7039815 DOI: 10.3389/fped.2020.00004

– Drawing of their own sleep by children with sleep-disordered breathing gives insight into their imaginary life.
Auriane Filhol, Lisa Ouss, Alessandro Amaddeo, Sonia Khirani, Brigitte Fauroux
Acta Paediatr, 2020 Nov, PMID: 32043654 DOI: 10.1111/apa.15221

– Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study.
Eugenio Mercuri, Francesco Muntoni, Andrés Nascimento Osorio, Már Tulinius, Filippo Buccella, Lauren P Morgenroth, Heather Gordish-Dressman, Joel Jiang, Panayiota Trifillis, Jin Zhu, Allan Kristensen, Claudio L Santos, Erik K Henricson, Craig M McDonald & Isabelle Desguerre; on behalf of the STRIDE & CINRG Duchenne Natural History Investigators
J Comp Eff Res, 2020 Apr, PMID: 31997646 PMCID: PMC7610147 DOI: 10.2217/cer-2019-0171

– Cough, sniff and maximal static pressure patterns in spinal muscular atrophy.
Sonia Khirani, Alessandro Amaddeo, Brigitte Fauroux
Respir Physiol Neurobiol, 2020 Jan, PMID: 31561013 DOI: 10.1016/j.resp.2019.103308

– Skeletal Muscle Microvasculature: A Highly Dynamic Lifeline.
Latroche C, Gitiaux C, Chrétien F, Desguerre I, Mounier R, Chazaud B.
Physiology (Bethesda). 2015 Nov;30(6):417-27.

– Mosaic Tetrasomy 9p: A Mendelian Condition Associated With Pediatric-Onset Overlap Myositis.
Frémond ML, Gitiaux C, Bonnet D, Guiddir T, Crow YJ, de Pontual L, Bader-Meunier B.
Pediatrics. 2015 Aug;136(2)

– Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome.
Gitiaux C, Blin-Rochemaure N, Hully M, Echaniz-Laguna A, Calmels N, Bahi-Buisson N, Desguerre I, Dabaj I, Wehbi S, Quijano-Roy S, Laugel V.
Clin Neurophysiol. 2015 Jul;126(7)

– The value of respiratory muscle testing in children with neuromuscular disease.
Fauroux B, Quijano-Roy S, Desguerre I, Khirani S.
Chest. 2015 Feb;147(2):552-9

– [Diagnosis and natural history of Duchenne muscular dystrophy].
Desguerre I, Laugel V.
Arch Pediatr. 2015 Dec;22(12 Suppl 1):12S24-30

– [Chanarin-Dorfman syndrome in a 7-year-old child: when myophathy and skin involvement are all but one].
Barnérias C, Bassez G, Schischmanoff O.
Med Sci (Paris). 2015 Nov;31

– Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.
Hankiewicz K, Carlier RY, Lazaro L, Linzoain J, Barnerias C, Gómez-Andrés D, Avila-Smirnow D, Ferreiro A, Estournet B, Guicheney P, Germain DP, Richard P, Bulacio S, Mompoint D, Quijano-Roy S.
Muscle Nerve. 2015 Nov;52(5):728-35

– Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial.
Seferian AM, Moraux A, Annoussamy M, Canal A, Decostre V, Diebate O, Le Moing AG, Gidaro T, Deconinck N, Van Parys F, Vereecke W, Wittevrongel S, Mayer M, Maincent K, Desguerre I, Thémar-Noël C, Cuisset JM, Tiffreau V, Denis S, Jousten V, Quijano-Roy S, Voit T, Hogrel JY, Servais L.
PLoS One. 2015 Feb 2;10(2)

– CD49d is a disease progression biomarker and a potential target for immunotherapy in Duchenne muscular dystrophy.
Pinto-Mariz F, Rodrigues Carvalho L, Prufer De Queiroz Campos Araujo A, De Mello W, Gonçalves Ribeiro M, Cunha Mdo C, Cabello PH, Riederer I, Negroni E, Desguerre I, Veras M, Yada E, Allenbach Y, Benveniste O, Voit T, Mouly V, Silva-Barbosa SD, Butler-Browne G, Savino W.
Skelet Muscle. 2015 Dec 10;5:45.

– [Are respiratory muscle testing helpful to prompt sleep studies in children with neuromuscular disease?].
Khirani S, Ramirez A, Olmo-Arroyo J, Amaddeo A, Quijano-Roy S, Desguerre I, Fauroux B.
Med Sci (Paris). 2015 Nov;31 Spec No 3:14-7.

– A critical and previously unsuspected role for doublecortin at the neuromuscular junction in mouse and human.
Bourgeois F, Messéant J, Kordeli E, Petit JM, Delers P, Bahi-Buisson N, Bernard V, Sigoillot SM, Gitiaux C, Stouffer M, Francis F, Legay C.
Neuromuscul Disord. 2015 Jun;25(6):461-73.

– Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.
Hankiewicz K, Carlier RY, Lazaro L, Linzoain J, Barnerias C, Gómez-Andrés D, Avila-Smirnow D, Ferreiro A, Estournet B, Guicheney P, Germain DP, Richard P, Bulacio S, Mompoint D, Quijano-Roy S.
Muscle Nerve. 2015 Nov;52(5):728-35.

– 203rd ENMC international workshop: respiratory pathophysiology in congenital muscle disorders: implications for pro-active care and clinical research 13-15 December, 2013, Naarden, The Netherlands.
Rutkowski A, Chatwin M, Koumbourlis A, Fauroux B, Simonds A; CMD Respiratory Physiology Consortium.
Neuromuscul Disord. 2015 Apr;25(4):353-8.

– Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C.
Hum Mutat. 2014 Jul;35(7):779-90.

– The value of respiratory muscle testing in a child with congenital muscular dystrophy.
Khirani S, Dabaj I, Amaddeo A, Ramirez A, Quijano-Roy S, Fauroux B.
Respirol Case Rep. 2014 Sep;2(3):95-8.

– Neuromuscular disease and respiratory physiology in children: putting lung function into perspective.
Fauroux B, Khirani S.
Respirology. 2014 Aug;19(6):782-91.

– Non-invasive positive pressure ventilation to facilitate the post-operative respiratory outcome of spine surgery in neuromuscular children.
Khirani S, Bersanini C, Aubertin G, Bachy M, Vialle R, Fauroux B.
Eur Spine J. 2014 Jul;23 Suppl 4:S406-11.

– Respiratory muscle decline in Duchenne muscular dystrophy.
Khirani S, Ramirez A, Aubertin G, Boulé M, Chemouny C, Forin V, Fauroux B.
Pediatr Pulmonol. 2014 May;49(5):473-81

– [Multicentric study of medical care and practices in spinal muscular atrophy type 1 over two 10-year periods].
Barnérias C, Quijano S, Mayer M, Estournet B, Cuisset JM, Sukno S, Peudenier S, Laroche C, Chabrier S, Sabouraud P, Vuillerot C, Chabrol B, Halbert C, Cancès C, Beze-Beyrie P, Ledivenah A, Viallard ML, Desguerre I.
Arch Pediatr. 2014 Apr;21(4):347-54.

– Diagnostic approach to the congenital muscular dystrophies.
Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN; Members of International Standard of Care Committee for Congenital Muscular Dystrophies.
Neuromuscul Disord. 2014 Apr;24(4):289-311.

– Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors.
Bertrand AT, Ziaei S, Ehret C, Duchemin H, Mamchaoui K, Bigot A, Mayer M, Quijano-Roy S, Desguerre I, Lainé J, Ben Yaou R, Bonne G, Coirault C.
J Cell Sci. 2014 Jul 1;127(Pt 13):2873-84

– Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Laquérriere, A ; Maluenda, J ; Camus, A ; Fontenas, L ; Dieterich, K ; Nolent, F & al.
Hum. Mol. Genet. 2014.

– Diaphragmatic dysfunction in Collagen VI myopathies.
Quijano-Roy S, Khirani S, Colella M, Ramirez A, Aloui S, Wehbi S, de Becdelievre A, Carlier RY, Allamand V, Richard P, Azzi V, Estournet B, Fauroux B.
Neuromuscul Disord. 2014 Feb;24(2):125-33

– Evaluation of ventilators for mouthpiece ventilation in neuromuscular disease.
Khirani S, Ramirez A, Delord V, Leroux K, Lofaso F, Hautot S, Toussaint M, Orlikowski D, Louis B, Fauroux B.
Respir Care. 2014 Sep;59(9):1329-37

– Long-term mechanical ventilation equipment for neuromuscular patients: meeting the expectations of patients and prescribers.
Lofaso F, Prigent H, Tiffreau V, Menoury N, Toussaint M, Monnier AF, Stremler N, Devaux C, Leroux K, Orlikowski D, Mauri C, Pin I, Sacconi S, Pereira C, Pépin JL, Fauroux B; Association Française Contre les Myopathies research group.
Respir Care. 2014 Jan;59(1):97-106

– [What a tracheostomy changes in a child with a neuromuscular disease].
Rul B, Quijano-Roy S, Golse A, Beynier D, Estournet B, Desguerre I, Barnerias C, Herve C.
Rech Soins Infirm. 2013 Sep;(114):46-57. French.

– Whole microvascular unit deletions in dermatomyositis.
Gitiaux C, Kostallari E, Lafuste P, Authier FJ, Christov C, Gherardi RK.
Ann Rheum Dis. 2013 Mar;72(3):445-52

– Diaphragmatic weakness with progressive sensory and motor polyneuropathy: case report of a neonatal IGHMBP2-related neuropathy.
Gitiaux C, Bergounioux J, Magen M, Quijano-Roy S, Blanc T, Bonnefont JP, Desguerre I.
J Child Neurol. 2013 Jun;28(6):787-90

– Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
Mercier S, Toutain A, Toussaint A, Raynaud M, de Barace C, Marcorelles P, Pasquier L, Blayau M, Espil C, Parent P, Journel H, Lazaro L, Andoni Urtizberea J, Moerman A, Faivre L, Eymard B, Maincent K, Gherardi R, Chaigne D, Ben Yaou R, Leturcq F, Chelly J, Desguerre I. Eur
J Hum Genet. 2013 Aug;21(8):855-63.

– Progressive muscular dystrophies.
Chelly J, Desguerre I.
Handb Clin Neurol. 2013;113:1343-66.

– Innovative methods to assess upper limb strength and function in non-ambulant Duchenne patients.
Servais L, Deconinck N, Moraux A, Benali M, Canal A, Van Parys F, Vereecke W, Wittevrongel S, Mayer M, Desguerre I, Maincent K, Themar-Noel C, Quijano-Roy S, Serari N, Voit T, Hogrel JY.
Neuromuscul Disord. 2013 Feb;23(2):139-48.

– Diagnostic workup for neuromuscular diseases.
Fardeau M, Desguerre I.
Handb Clin Neurol. 2013;113:1291-7

– Longitudinal course of lung function and respiratory muscle strength in spinal muscular atrophy type 2 and 3.
Khirani S, Colella M, Caldarelli V, Aubertin G, Boulé M, Forin V, Ramirez A, Fauroux B.
Eur J Paediatr Neurol. 2013 Nov;17(6):552-60.

– Responsiveness of the motor function measure in neuromuscular diseases.
Vuillerot C, Payan C, Girardot F, Fermanian J, Iwaz J, Bérard C, Ecochard R; MFM Study Group.
Arch Phys Med Rehabil. 2012 Dec;93(12):2251-6

– A new model of experimental fibrosis in hindlimb skeletal muscle of adult mdx mouse mimicking muscular dystrophy.
Desguerre I, Arnold L, Vignaud A, Cuvellier S, Yacoub-Youssef H, Gherardi RK, Chelly J, Chretien F, Mounier R, Ferry A, Chazaud B.
Muscle Nerve. 2012 Jun;45(6):803-14.

– MFN2, a new gene responsible for mitochondrial DNA depletion.
Renaldo F, Amati-Bonneau P, Slama A, Romana C, Forin V, Doummar D, Barnerias C, Bursztyn J, Mayer M, Khouri N, Billette de Villemeur T, Burglen L, Reynier P, Bernabe Gelot A, Rodriguez D.
Brain. 2012 Aug;135(Pt 8):e223

– Thrombotic microangiopathy and Purtscher-like retinopathy as a rare presentation of juvenile dermatomyositis.
Bader-Meunier B, Monnet D, Barnerias C, Halphen I, Lambot-Juhan K, Chalumeau M, Costedoat-Chalumeau N, Ribeil JA, Bodemer C, Gherardi R.
Pediatrics. 2012 Mar;129(3):e821-4

– Safety and efficacy of rituximab in severe juvenile dermatomyositis: results from 9 patients from the French Autoimmunity and Rituximab registry.
Bader-Meunier B, Decaluwe H, Barnerias C, Gherardi R, Quartier P, Faye A, Guigonis V, Pagnier A, Brochard K, Sibilia J, Gottenberg JE, Bodemer C; Club Rhumatismes et Inflammation.
J Rheumatol. 2011 Jul;38(7):1436-40