Détail de l'auteur
Auteur Quijano-Roy S |
Documents disponibles écrits par cet auteur (113)



![]()
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)
![]()
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)
![]()
Asymmetric muscle weakness due to ACTA1 mosaic mutations
Lornage X, Quijano-Roy S, Amthor H, et al.
Neurology, 2020
Revue : Neurology Titre : Asymmetric muscle weakness due to ACTA1 mosaic mutations Type de document : Article Auteurs : Lornage X ; Quijano-Roy S ; Amthor H ; Carlier RY ; Monnier N ; Deleuze JF ; Romero NB ; Laporte J ; Böhm J Editeur : United States Année de publication : 09/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32989108 / DOI : 10.1212/WNL.0000000000010947
N° Profil MNM : 2020101 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32989108 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
![]()
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)
![]()
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
Revue : Journal of Neuromuscular Diseases Titre : RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design Type de document : Article Auteurs : Finkel RS ; Day JW ; de Vivo DC ; Kirschner J ; Mercuri E ; Muntoni F ; Shieh PB ; Tizzano E ; Desguerre I ; Quijano-Roy S ; Saito K ; Droege M ; Dabbous O ; Khan F ; Renault L ; Anderson FA ; Servais L Editeur : Netherlands Année de publication : 02/2020 Langues : Anglais (eng) Mots-clés : amyotrophie spinale ; essai clinique ; évolution de la maladie ; maladie du motoneurone ; maladie neuromusculaire ; prise en charge thérapeutique ; registre de malades Pubmed / DOI : Pubmed : 32039859 / DOI : 10.3233/JND-190451
N° Profil MNM : 2020021 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32039859 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
![]()
European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy
Kirschner J, Butoianu N, Goemans N, et al.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2020
Permalink![]()
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
Permalink![]()
Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy
Villar-Quiles RN, De la Banda MGG, Barois A, et al.
Journal of Neuromuscular Diseases, 2019
Permalink![]()
The Utility and Practice of Electrodiagnostic Testing in the Pediatric Population: An AANEM Consensus Statement
Kang PB, McMillan HJ, Kuntz NL, et al.
Muscle & Nerve, 2019
Permalink![]()
MYO-MRI diagnostic protocols in genetic myopathies.
Chardon JW, Diaz-Manera J, Tasca G, et al.
Neuromuscular disorders : NMD, 2019, 29, 11, p 827
Permalink![]()
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
Permalink![]()
Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests
Gómez-Andrés D, Diaz J, Munell F, et al.
Muscle & Nerve, 2019, 59, 4, p 436
Permalink![]()
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
Permalink![]()
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
Permalink![]()
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity
Tordjman M, Dabaj I, Laforêt P, et al.
European radiology, 2018
Permalink![]()
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement
Dabaj I, Carlier RY, Gómez-Andrés D, et al.
Muscle & Nerve, 2018
Permalink![]()
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility
Zaharieva IT, Zaharieva IT, Sarkozy A, et al.
Human mutation, 2018, 39, 12, p 1980
Permalink![]()
MRI in sarcoglycanopathies: a large international cohort study
Tasca G, Monforte M, Diaz-Manera J, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018, 89, 1, p 72
Permalink![]()
Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up
Gómez-Andrés D, Gómez-Andrés D, Diaz-Manera J, et al.
Muscle & Nerve, 2018, 58, 6, p 812
Permalink![]()
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
Permalink![]()
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
Mercuri E, Finkel RS, Muntoni F, et al.
Neuromuscular disorders : NMD, 2017
Permalink![]()
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics
Finkel RS, Mercuri E, Meyer OH, et al.
Neuromuscular disorders : NMD, 2017
Permalink![]()
Trachéotomie et myopathie - Histoire d'une rencontre : Historique
Tiberghien D, Gallen C, Quijano-Roy S, et al.
Les Cahiers de Myologie, 2017, 33, HS 1, p 11
Permalink![]()
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Schartner V, Romero NB, Donkervoort S, et al.
Acta neuropathologica, 2017, 133, 4, p 517
Permalink![]()
Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care
Heller F, Dabaj I, Mah JK, et al.
Cardiology in the young, 2017, 27, 6, p 1076
Permalink