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Continuous lengthening potential after four years of magnetically controlled spinal deformity correction in children with spinal muscular atrophy
Lorenz HM, Hecker MM, Braunschweig L, et al.
Scientific Reports, 2020, 10, 1, p 22420
Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis
Ricci G, Mele F, Govi M, et al.
Scientific Reports, 2020, 10, 1, p 21648
Echocardiographic signs of subclinical cardiac function impairment in Duchenne dystrophy gene carriers
Kincl V, Panovský R, Pešl M, et al.
Scientific Reports, 2020, 10, 1, p 20794
Resveratrol improves motor function in patients with muscular dystrophies: an open-label, single-arm, phase IIa study
Kawamura K, Fukumura S, Nikaido K, et al.
Scientific Reports, 2020, 10, 1, p 20585
SMN protein promotes membrane compartmentalization of ribosomal protein S6 transcript in human fibroblasts
Gabanella F, Onori A, Ralli M, et al.
Scientific Reports, 2020, 10, 1, p 19000
Discovery of a CNS penetrant small molecule SMN2 splicing modulator with improved tolerability for spinal muscular atrophy
Ando S, Suzuki S, Okubo S, et al.
Scientific Reports, 2020, 10, 1, p 17472
Nusinersen ameliorates motor function and prevents motoneuron Cajal body disassembly and abnormal poly(A) RNA distribution in a SMA mouse model
Berciano MT, Puente-Bedia A, Medina-Samame A, et al.
Scientific Reports, 2020, 10, 1
CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness
Huang JY, Kan SH, Sandfeld EK, et al.
Scientific Reports, 2020, 10, 1
Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation
Perez-Siles G, Cutrupi A, Ellis M, et al.
Scientific Reports, 2020, 10, 1, p 9262
RNA Sequence Analyses throughout the Course of Mouse Cardiac Laminopathy Identify Differentially Expressed Genes for Cell Cycle Control and Mitochondrial Function
Shao Z, Koh W, Ni Y, et al.
Scientific Reports, 2020, 10, 1, p 6632
Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease
Aung-Htut MT, Ham KA, Tchan M, et al.
Scientific Reports, 2020, 10, 1, p 6702
Connexin-43 reduction prevents muscle defects in a mouse model of manifesting Duchenne muscular dystrophy female carriers
Nouet J, Himelman E, Lahey KC, et al.
Scientific Reports, 2020, 10, 1, p 5683
Janus effect of glucocorticoids on differentiation of muscle fibro/adipogenic progenitors
Cerquone Perpetuini A, Giuliani G, Reggio A, et al.
Scientific Reports, 2020, 10, 1
High-throughput identification of post-transcriptional utrophin up-regulators for Duchenne muscle dystrophy (DMD) therapy
Loro E, Sengupta K, Bogdanovich S, et al.
Scientific Reports, 2020, 10, 1, p 2132
Inhibition of cyclooxygenase-1 by nonsteroidal anti-inflammatory drugs demethylates MeR2 enhancer and promotes Mbnl1 transcription in myogenic cells
Huang K, Masuda A, Chen G, et al.
Scientific Reports, 2020, 10, 1
RyR1-targeted drug discovery pipeline integrating FRET-based high-throughput screening and human myofiber dynamic Ca(2+) assays
Rebbeck RT, Singh DP, Janicek KA, et al.
Scientific Reports, 2020, 10, 1
AChR antibodies show a complex interaction with human skeletal muscle cells in a transcriptomic study
Hong Y, Liang X, Gilhus NE
Scientific Reports, 2020, 10, 1
Capsid-specific removal of circulating antibodies to adeno-associated virus vectors
Bertin B, Veron P, Leborgne C, et al.
Scientific Reports, 2020, 10, 1, p 864
Computational cognitive modeling and validation of Dp140 induced alteration of working memory in Duchenne Muscular Dystrophy
Tyagi R, Aggarwal P, Mohanty M, et al.
Scientific Reports, 2020, 10, 1
Diagnosis of a model of Duchenne muscular dystrophy in blood serum of mdx mice using Raman hyperspectroscopy
Ralbovsky NM, Dey P, Galfano A, et al.
Scientific Reports, 2020, 10, 1
Fatigue in adults with spinal muscular atrophy under treatment with nusinersen
Kizina K, Stolte B, Totzeck A, et al.
Scientific Reports, 2020, 10, 1
Genetic reduction of the extracellular matrix protein versican attenuates inflammatory cell infiltration and improves contractile function in dystrophic mdx diaphragm muscles
McRae NL, Addinsall AB, Howlett KF, et al.
Scientific Reports, 2020, 10, 1
Induction of a local muscular dystrophy using electroporation in vivo: an easy tool for screening therapeutics
Derenne A, Tassin A, Nguyen TH, et al.
Scientific Reports, 2020, 10, 1
miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy
Sanson M, Vu Hong A, Massouridès E, et al.
Scientific Reports, 2020, 10, 1, p 9139
The comparison of nailfold videocapillaroscopy findings between anti-melanoma differentiation-associated gene 5 antibody and anti-aminoacyl tRNA synthetase antibody in patients with dermatomyositis complicated by interstitial lung disease
Wakura R, Matsuda S, Kotani T, et al.
Scientific Reports, 2020, 10, 1
