Détail de l'auteur
Documents disponibles écrits par cet auteur
trié(s) par (Pertinence décroissant(e), Date de parution décroissant(e), Date de parution décroissant(e), Système de projection du document croissant(e)) Mettre toutes les notices dans le panier Faire une suggestion Ajouter un critère de recherche
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
The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies
Perrin A, Juntas Morales R, Rivier F, et al.
Neuromuscular disorders : NMD, 2020
La LGMD R21 liée au gène POGLUT1 : une myopathie ultra-rare aisément reconnaissable grâce à la biopsie et à l’imagerie musculaires : Lu pour vous
Malfatti E
Les Cahiers de Myologie, 2020, 21, p 32
Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy
Lefeuvre C, Schaeffer S, Carlier RY, et al.
Molecular genetics and metabolism reports, 2020, 24
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
Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient
Malfatti E, Cassandrini D, Rubegni A, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2020, 39, 2, p 98
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Alonso-Perez J, Gonzalez-Quereda L, Bello L, et al.
Brain : a journal of neurology, 2020, 143, 9, p 2696
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
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
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment
Laforêt P, Inoue M, Goillot E, et al.
Acta neuropathologica communications, 2019, 7, 1, p 167
Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants
Gonzalez-del Angel A, Bisciglia M, Vargas-Canas S, et al.
Frontiers in neurology, 2019, 10, 1049
KBTBD13 is an actin-binding protein that modulates muscle kinetics
de Winter JM, Molenaar JP, Yuen M, et al.
The Journal of clinical investigation, 2019
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
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
Clinical, histological, and genetic characterization of PYROXD1-related myopathy
Lornage X, Schartner V, Balbueno I, et al.
Acta neuropathologica communications, 2019, 7, 1, p 138
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
Olivé M, Engvall M, Ravenscroft G, et al.
Nature communications, 2019, 10, 1
Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study
Echaniz-Laguna A, Nadjar Y, Behin A, et al.
Journal of inherited metabolic disease, 2019
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies
Garibaldi M, Garibaldi M, Rendu J, et al.
Acta neuropathologica communications, 2019, 7, 1
ACTN2 mutations cause "Multiple structured Core Disease" (MsCD)
Lornage X, Romero NB, Grosgogeat CA, et al.
Acta neuropathologica, 2019, 137, 3, p 501
Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
Biancalana V, Romero NB, Thuestad IJ, et al.
Acta neuropathologica communications, 2018, 6, 1
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
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
Inclusion body myositis and human immunodeficiency virus type 1: A new case report and literature review
Couture P, Malfatti E, Morau G, et al.
Neuromuscular disorders : NMD, 2018, 28, 4, p 334
CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy
Böhm J, Lornage X, Chevessier F, et al.
Acta neuropathologica, 2018, 135, 1, p 149
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3)
Joureau B, de Winter JM, Conijn S, et al.
Annals of neurology, 2018, 83, 2, p 269
