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Auteur Desguerre I |
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From diagnosis to prognosis: Revisiting the meaning of muscle ISG15 overexpression in juvenile inflammatory myopathies
Hou C, Durrleman C, Periou B, et al.
Arthritis & rheumatology (Hoboken, N.J.), 2020
Revue : Arthritis & rheumatology (Hoboken, N.J.) Titre : From diagnosis to prognosis: Revisiting the meaning of muscle ISG15 overexpression in juvenile inflammatory myopathies Type de document : Article Auteurs : Hou C ; Durrleman C ; Periou B ; Barnerias C ; Bodemer C ; Desguerre I ; Quartier P ; Melki I ; Rice GI ; Rodero MP ; Charuel JL ; Relaix F ; Bader-Meunier B ; Authier FJ ; Gitiaux C Editeur : United States Année de publication : 14/12/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33314705 / DOI : 10.1002/art.41625
N° Profil MNM : 2020122 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33314705 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Very low residual dystrophin quantity is associated with milder dystrophinopathy
de Feraudy Y, Yaou RB, Wahbi K, et al.
Annals of neurology, 2020
Revue : Annals of neurology Titre : Very low residual dystrophin quantity is associated with milder dystrophinopathy Type de document : Article Auteurs : de Feraudy Y ; Yaou RB ; Wahbi K ; Stalens C ; Stantzou A ; Laugel V ; Desguerre I ; Servais L ; Leturcq F ; Amthor H Editeur : United States Année de publication : 07/11/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33159473 / DOI : 10.1002/ana.25951
N° Profil MNM : 2020111 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33159473 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen
Gomez-Garcia de la Banda M, Amaddeo A, Khirani S, et al.
Pediatric pulmonology, 2020
Revue : Pediatric pulmonology Titre : Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen Type de document : Article Auteurs : Gomez-Garcia de la Banda M ; Amaddeo A ; Khirani S ; Pruvost S ; Barnerias C ; Dabaj I ; Benezit A ; Durigneux J ; Carlier RY ; Desguerre I ; Quijano-Roy S ; Fauroux B Editeur : United States Année de publication : 29/10/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33118682 / DOI : 10.1002/ppul.25142
N° Profil MNM : 2020111 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33118682 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies
Guimaraes-Costa R, Fernandez-Eulate G, Wahbi K, et al.
European journal of neurology, 2020
Revue : European journal of neurology Titre : Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies Type de document : Article Auteurs : Guimaraes-Costa R ; Fernandez-Eulate G ; Wahbi K ; Leturcq F ; Malfatti E ; Behin A ; Leonard-Louis S ; Desguerre I ; Barnerias C ; Nougues MC ; Isapof A ; Estournet-Mathiaud B ; Quijano-Roy S ; Fayssoil A ; Orlikowski D ; Fauroux B ; Richard I ; Semplicini C ; Romero NB ; Querin G ; Eymard B ; Laforêt P ; Stojkovic T Editeur : England Année de publication : 14/10/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33051934 / DOI : 10.1111/ene.14592
N° Profil MNM : 2020102 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33051934 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study
Audic F, De la Banda MGG, Bernoux D, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 148
Revue : Orphanet journal of rare diseases, 15, 1 Titre : Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study Type de document : Article Auteurs : Audic F ; De la Banda MGG ; Bernoux D ; Ramirez-Garcia P ; Durigneux J ; Barnerias C ; Isapof A ; Cuisset JM ; Cances C ; Richelme C ; Vuillerot C ; Laugel V ; Ropars J ; Altuzarra C ; Espil-Taris C ; Walther-Louvier U ; Sabouraud P ; Chouchane M ; Vanhulle C ; Trommsdorff V ; Perville A ; Testard H ; Lagrue E ; Sarret C ; Avice AL ; Beze-Beyrie P ; Pauly V ; Quijano-Roy S ; Chabrol B ; Desguerre I Année de publication : 06/2020 Pages : p 148 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32532349 / DOI : 10.1186/s13023-020-01414-8
N° Profil MNM : 2020061 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32532349 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports
Hully M, Barnerias C, Chabalier D, et al.
Frontiers in pediatrics, 2020, 8, 4
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RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design
Finkel RS, Day JW, de Vivo DC, et al.
Journal of Neuromuscular Diseases, 2020
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Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study
Mercuri E, Muntoni F, Osorio AN, et al.
Journal of comparative effectiveness research, 2020
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The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series
Villar-Quiles RN, von der Hagen M, Metay C, et al.
Neurology, 2020, 95, 11
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Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency
Barcia G, Khirani S, Amaddeo A, et al.
Neuromuscular disorders : NMD, 2020, 30, 7, p 593
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Questions-Réponses sur Coronavirus COVID-19 et maladies neuromusculaires
Brissac M, Bled D, Duval F, et al.
2020, 8 p
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Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network
Solé G, Salort-Campana E, Pereon Y, et al.
Revue neurologique, 2020, 176, 6, p 507
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Inhibition of IFNalpha secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology
Gitiaux C, Bondet V, Bekaddour N, et al.
Rheumatology (Oxford, England), 2019
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Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry
Muntoni F, Desguerre I, Guglieri M, et al.
Journal of comparative effectiveness research, 2019
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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Wahbi K, Ben Yaou R, Gandjbakhch E, et al.
Circulation, 2019
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Thoracic circumference: A new outcome measure in spinal muscular atrophy type 1?
Ropars J, Barnerias C, Hully M, et al.
Neuromuscular disorders : NMD, 2019
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Thérapies innovantes et organisation des structures de soins
Desguerre I, Perreau-Saussine M, Annane D, et al.
médecine/sciences, 2019, 35, HS1, p 51
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A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management
Lagrue E, Dogan C, De Antonio M, et al.
Neurology, 2019, 92, 8, p 852
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Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study
Viguier A, Viguier A, Lauwers-Cances V, et al.
Neuromuscular disorders : NMD, 2019, 29, 2, p 114
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Phénotypes cognitifs dans la dystrophie musculaire de Duchenne : revue de la littérature et perspectives (neuro) développementales
Mennetrey C, Jambaque I, Desguerre I
Canadian Psychology/Psychologie canadienne, 2019
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Clinical features and evolution of juvenile myasthenia gravis in a French cohort
Barraud C, Desguerre I, Barnerias C, et al.
Muscle & Nerve, 2018, 57, 4, p 603
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Respiratory insight to congenital muscular dystrophies and congenital myopathies and its relation to clinical trial
Fauroux B, Fauroux B, Amaddeo A, et al.
Neuromuscular disorders : NMD, 2018, 28, 9, p 731
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Muscle ischaemia associated with NXP2 autoantibodies: a severe subtype of juvenile dermatomyositis
Aouizerate J, De Antonio M, Bader-Meunier B, et al.
Rheumatology (Oxford, England), 2018, 57, 5, p 873
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Sleep in infants with congenital myasthenic syndromes
Caggiano S, Khirani S, Verrillo E, et al.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2017, 21, 6, p 842
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Diaphragmatic dysfunction in SEPN1-related myopathy
Caggiano S, Khirani S, Dabaj I, et al.
Neuromuscular disorders : NMD, 2017, 27, 8, p 747
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