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Auteur Carlier RY
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Carlier R
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Documents disponibles écrits par cet auteur



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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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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)
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Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry
Semplicini C, De Antonio M, Taouagh N, et al.
Journal of inherited metabolic disease, 2020
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy
Lefeuvre C, Schaeffer S, Carlier RY, et al.
Molecular genetics and metabolism reports, 2020, 24
Revue : Molecular genetics and metabolism reports, 24 Titre : Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy Type de document : Article Auteurs : Lefeuvre C ; Schaeffer S ; Carlier RY ; Fournier M ; Chapon F ; Biancalana V ; Nicolas G ; Malfatti E ; Laforêt P Année de publication : 05/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32477874 / DOI : 10.1016/j.ymgmr.2020.100597
N° Profil MNM : 2020053 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32477874 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency
Perrin A, Metay C, Villanova M, et al.
Annals of clinical and translational neurology, 2020
Revue : Annals of clinical and translational neurology Titre : A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency Type de document : Article Auteurs : Perrin A, Auteur ; Metay C ; Villanova M ; Carlier RY ; Pegoraro E ; Juntas Morales R ; Stojkovic T ; Richard I ; Richard P ; Romero NB ; Granzier H ; Koenig M ; Malfatti E ; Cossée M Editeur : United States Année de publication : 04/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32307885 / DOI : 10.1002/acn3.51031
N° Profil MNM : 2020042 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32307885 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations
Vázquez J, Lefeuvre C, Escobar RE, et al.
Journal of Neuromuscular Diseases, 2020, 7, 4, p 443
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MYO-MRI diagnostic protocols in genetic myopathies.
Chardon JW, Diaz-Manera J, Tasca G, et al.
Neuromuscular disorders : NMD, 2019, 29, 11, p 827
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European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
Barp A, Laforêt P, Bello L, et al.
Journal of neurology, 2019
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X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures
Brisset M, Ben Yaou R, Carlier RY, et al.
Neuromuscular disorders : NMD, 2019, 29, 9, p 678
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Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy
Alonso-Jimenez A, Alonso-Jimenez A, Kroon RHMJM, et al.
Journal of neurology, neurosurgery, and psychiatry, 2019, 90, 5, p 576
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Diaphragm sniff ultrasound: Normal values, relationship with sniff nasal pressure and accuracy for predicting respiratory involvement in patients with neuromuscular disorders
Fayssoil A, Nguyen LS, Ogna A, et al.
PLoS ONE, 2019, 14, 4
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Whole-Body Muscle Magnetic Resonance Imaging in Glycogen-Storage Disease Type III
Tobaly D, Laforêt P, Perry A, et al.
Muscle & Nerve, 2019
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ACTN2 mutations cause "Multiple structured Core Disease" (MsCD)
Lornage X, Romero NB, Grosgogeat CA, et al.
Acta neuropathologica, 2019, 137, 3, p 501
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Echographic Assessment of Diaphragmatic Function in Duchenne Muscular Dystrophy from Childhood to Adulthood
Fayssoil A, Chaffaut C, Ogna A, et al.
Journal of Neuromuscular Diseases, 2019, 6, 1, p 55
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Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity
Tordjman M, Dabaj I, Laforêt P, et al.
European radiology, 2018
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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
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The first French case of MATR3-related distal myopathy: Clinical, radiological and histopathological characterization
Barp A, Malfatti E, Metay C, et al.
Revue neurologique, 2018
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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
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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
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WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon
Masingue M, Perrot J, Carlier RY, et al.
Neurogenetics, 2018, 19, 2, p 67
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Diaphragm: Pathophysiology and Ultrasound Imaging in Neuromuscular Disorders
Fayssoil A, Behin A, Ogna A, et al.
Journal of Neuromuscular Diseases, 2017
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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Biancalana V, Scheidecker S, Miguet M, et al.
Acta neuropathologica, 2017, 134, 6, p 889
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Recessive MYPN mutations cause cap myopathy with occasional nemaline rods
Lornage X, Malfatti E, Chéraud C, et al.
Annals of neurology, 2017, 81, 3, p 467
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HyperCKemia and myalgia are a common presentation of Anoctamin-5 (ANO5)-related myopathy in French patients
Papadopoulos C, Laforêt P, Nectoux J, et al.
Muscle & Nerve, 2017, 56, 6, p 1096
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Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency
Ben Yaou R, Hubert A, Nelson I, et al.
Neurology. Genetics, 2017, 3, 6
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