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transcriptomeSynonyme(s)transcriptome |
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RNA-Seq Analysis of an Antisense Sequence Optimized for Exon Skipping in Duchenne Patients Reveals No Off-Target Effect
Domenger C, Allais M, François V, et al.
Molecular therapy. Nucleic acids, 2018, 10, p 277
PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models
Zhao HT, Damle S, Ikeda-Lee K, et al.
The Journal of clinical investigation, 2018, 128, 1, p 359
IFN-beta-induced reactive oxygen species and mitochondrial damage contribute to muscle impairment and inflammation maintenance in dermatomyositis
Meyer A, Laverny G, Allenbach Y, et al.
Acta neuropathologica, 2017, 134, 4, p 655
Thymic Germinal Centers and Corticosteroids in Myasthenia Gravis: an Immunopathological Study in 1035 Cases and a Critical Review
Truffault F, de Montpreville V, Eymard B, et al.
Clinical reviews in allergy & immunology, 2017, 52, 1, p 108
The rapid evolution of molecular genetic diagnostics in neuromuscular diseases
Volk AE, Kubisch C
Current opinion in neurology, 2017, 30, 5, p 523
Methylome and transcriptome profiling in Myasthenia Gravis monozygotic twins
Mamrut S, Avidan N, Truffault F, et al.
Journal of autoimmunity, 2017, 82, p 62
Muscular response to the first three months of deflazacort treatment in boys with Duchenne muscular dystrophy
Jensen L, Petersson SJ, Illum NO, et al.
Journal of musculoskeletal & neuronal interactions, 2017, 17, 2, p 8
Prédisposition aux pathologies auto-immunes - Les hommes ne manquent pas « d’Aire » : [Autoimmune disease predisposition: Aire « protects » men]
Dragin N, Le Panse R, Berrih-Aknin S
médecine/sciences, 2017, 33, 2, p 169
SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage
Jangi M, Fleet C, Cullen P, et al.
Proceedings of the national Academy of sciences of the United States of America, 2017, 114, 12
Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin
Rizzo F, Ramirez A, Compagnucci C, et al.
Scientific Reports, 2017, 7
Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis
Preusse C, Allenbach Y, Hoffmann O, et al.
Acta neuropathologica communications, 2016, 4, 1
A Molecular Signature of Myalgia in Myotonic Dystrophy 2
Moshourab R, Palada V, Grunwald S, et al.
EBiomedicine, 2016, 7, p 205
Modified Atkins diet induces subacute selective ragged-red-fiber lysis in mitochondrial myopathy patients
Ahola S, Auranen M, Isohanni P, et al.
EMBO Molecular Medicine, 2016, 8, 11, p 1234
Comparative transcriptome analysis of muscular dystrophy models Large(myd), Dmd(mdx)/Large(myd) and Dmd(mdx): what makes them different?
Almeida CF, Martins PC, Vainzof M
European journal of human genetics : EJHG, 2016, 24, 9, p 1301
Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency
Sigoillot SM, Bourgeois F, Karmouch J, et al.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2016, 30, 6, p 2382
Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy)
Kramerova I, Ermolova N, Eskin A, et al.
Human molecular genetics, 2016, 25, 11, p 2194
Cytokine genes as potential biomarkers for muscle weakness in OPMD
Riaz M, Raz Y, van der Slujis B, et al.
Human molecular genetics, 2016, 25, 19, p 4282
Deep RNA profiling identified clock and molecular clock genes as pathophysiological signatures in collagen VI myopathy
Scotton C, Bovolenta M, Schwartz E, et al.
Journal of cell science, 2016, 129, 8, p 1671
Targeting Mitogen-Activated Protein Kinase Signaling in Mouse Models of Cardiomyopathy Caused by Lamin A/C Gene Mutations
Muchir A, Worman HJ
Methods in enzymology, 2016, 568, p 557
Models of neuromuscular disease across the lifespan : Actes de colloque - Muscle Study Group Annual Meeting, Snowbird Ski & Summer Resort, Snowbird, UT, September 24-26, 2016
Collectif
Muscle & Nerve, 2016, 54, S1, p S5
Transcriptome assessment of the Pompe (Gaa-/-) mouse spinal cord indicates widespread neuropathology
Turner SM, Falk DJ, Byrne BJ, et al.
Physiological genomics, 2016, 48, 11, p 785
An Integrative Transcriptomic Analysis for Identifying Novel Target Genes Corresponding to Severity Spectrum in Spinal Muscular Atrophy
Yang CW, Chen CL, Chou WC, et al.
PLoS ONE, 2016, 11, 6
Laminin-alpha2 Chain-Deficient Congenital Muscular Dystrophy: Pathophysiology and Development of Treatment
Durbeej M
Current topics in membranes, 2015, 76, p 31
Circulating biomarkers for Duchenne Muscular Dystrophy
Aartsma-Rus A, Spitali P
Journal of Neuromuscular Diseases, 2015, 2, 2, Suppl 2, p. S49-S58
