Détail de l'éditeur
Documents disponibles chez cet éditeur
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
Comment on: The reliability of immunoassays to detect autoantibodies in patients with myositis is dependent on autoantibody specificity
Mahler M, Malyavantham K, Fritzler MJ, et al.
Rheumatology (Oxford, England), 2021, 60, 1, e35
Comment on: The reliability of immunoassays to detect autoantibodies in patients with myositis is dependent on autoantibody specificity: reply
Tansley SL, McHugh NJ
Rheumatology (Oxford, England), 2021, 60, 1, e38
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance: Report of four patients
Okhovat AA, Nilipour Y, Boostani R, et al.
Neuromuscular disorders : NMD, 2021, 31, 1, p 29
5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy
Xi J, Wang X, Yue D, et al.
Brain : a journal of neurology, 2020
Post-Transcriptional Regulation in Skeletal Muscle Development, Repair, and Disease
Weskamp K, Olwin BB, Parker R
Trends in molecular medicine, 2020
Plasma neurofilament light chain as a potential biomarker in Charcot-Marie-Tooth disease
Millere E, Rots D, Simrén J, et al.
European journal of neurology, 2020
Protein homeostasis in LGMDR9 (LGMD2I) - The role of ubiquitin-proteasome and autophagy-lysosomal system
Franekova V, Storjord HI, Leivseth G, et al.
Neuropathology and applied neurobiology, 2020
Adenylosuccinic acid: a novel inducer of the cytoprotectant Nrf2 with efficacy in Duchenne muscular dystrophy
Rybalka E, Goodman CA, Campelj DG, et al.
Current medical research and opinion, 2020
Brown-Vialetto-Van Laere and Fazio-Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance
Gayathri S, Gowda VK, Udhayabanu T, et al.
European journal of neurology, 2020
Ixazomib, an oral proteasome inhibitor, exhibits potential effect in dystrophin-deficient mdx mice
Micheletto MLJ, Hermes TA, Bertassoli BM, et al.
International journal of experimental pathology, 2020
Gender effect on cardiac involvement in myotonic dystrophy type 1
Garibaldi M, Lauletta A, Bucci E, et al.
European journal of neurology, 2020
Children and young adults with spinal muscular atrophy treated with nusinersen
Osredkar D, Jílková M, Butenko T, et al.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2020, 30, p 1
The hallmarks of myotonic dystrophy type 1 muscle dysfunction
Ozimski LL, Sabater-Arcis M, Bargiela A, et al.
Biological reviews of the Cambridge Philosophical Society, 2020
DNA methylation at the DMPK gene locus is associated with cognitive functions in myotonic dystrophy type 1
Breton É, Legare C, Overend G, et al.
Epigenomics, 2020, 12, 23, p 2051
The 2021 version of the gene table of neuromuscular disorders (nuclear genome)
Benarroch L, Bonne G, Rivier F, et al.
Neuromuscular disorders : NMD, 2020, 30, 12, p 1008
Fukutin-Related Protein: From Pathology to Treatments
Ortiz-Cordero C, Azzag K, Perlingeiro RCR
Trends in cell biology, 2020
Genetic neuropathies presenting with CIDP-like features in childhood
Fernandez-Garcia MA, Stettner GM, Kinali M, et al.
Neuromuscular disorders : NMD, 2020
Clinical features, treatments and outcomes of calcinosis in adult patients with dermatomyositis: a single cohort study
Jiang W, Yang H, Li S, et al.
Rheumatology (Oxford, England), 2020
Severe muscle damage with myofiber necrosis and macrophage infiltrates characterize anti-Mi2 positive dermatomyositis
Fornaro M, Girolamo F, Cavagna L, et al.
Rheumatology (Oxford, England), 2020
MSH2 knock-down shows CTG repeat stability and concomitant upstream demethylation at the DMPK locus in myotonic dystrophy type 1 human embryonic stem cells
Franck S, Barbé L, Ardui S, et al.
Human molecular genetics, 2020
Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?
Zhang H, Zhou ZW, Sun L
Journal of neurochemistry, 2020
The diagnostic value of GDF-15 for myocardial involvement in idiopathic inflammatory myopathy
Qiu M, Sun X, Qi X, et al.
Rheumatology (Oxford, England), 2020
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies
Chen Z, Maroofian R, Basak AN, et al.
European journal of neurology, 2020
