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2015, Fourth edition., Oxford monographs on medical genetics, ISBN 9780199681488, Volume no. 67., ix, 308 pages
Book
2003, 3rd ed., ISBN 9780198515319, x, 270 p., [2] p. of plates
Book
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 09/2016, Volume 87, Issue Suppl 1, pp. A2 - A2
Antisense oligonucleotides (AON) are increasingly used in neuromuscular and neurodegenerative disorders to either induce splice switching or for targeting and... 
Journal Article
Lancet, The, ISSN 0140-6736, 2011, Volume 378, Issue 9791, pp. 595 - 605
Journal Article
Methods in Molecular Biology, ISSN 1064-3745, 2018, Volume 1828, pp. 467 - 477
The application of antisense oligonucleotides (AONs) to modify pre-messenger RNA splicing has great potential for treating genetic diseases. The strategies... 
Alternative splicing | Motor neurons | Skeletal muscle pathology | PMO | SMA | Exon inclusion | SMN2 | Antisense oligonucleotide | Neuromuscular junction | Transgenic mouse model | Index Medicus
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2014, Volume 13, Issue 10, pp. 987 - 996
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2016, Volume 11, Issue 5, pp. e0155032 - e0155032
Gastrointestinal (GI) defects, including gastroesophageal reflux, constipation and delayed gastric emptying, are common in patients with spinal muscular... 
SURVIVAL | NERVOUS-SYSTEM | RESCUE | OLIGOMER | ABNORMALITIES | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | MOTOR-NEURON | SMN1 | SINGLE NUCLEOTIDE | DELIVERY | Spinal Cord - drug effects | Intestine, Small - pathology | Humans | Motor Neurons - pathology | Muscular Atrophy, Spinal - genetics | Spinal Cord - pathology | Injections, Subcutaneous | Survival of Motor Neuron 1 Protein - genetics | Motor Neurons - drug effects | Disease Models, Animal | Animals, Newborn | Gene Expression | Muscular Atrophy, Spinal - metabolism | Macrophages - pathology | Morpholinos - administration & dosage | Mice, Transgenic | Spinal Cord - blood supply | Survival of Motor Neuron 1 Protein - metabolism | Intestine, Small - blood supply | Muscular Atrophy, Spinal - pathology | Motor Neurons - metabolism | Survival of Motor Neuron 1 Protein - agonists | Homozygote | Macrophages - metabolism | Phenotype | Animals | Intestine, Small - drug effects | Muscular Atrophy, Spinal - therapy | Intestine, Small - innervation | Heterozygote | Macrophages - drug effects | Oligonucleotides, Antisense - administration & dosage | Mice | Genetic Therapy - methods | Gastroesophageal reflux | Care and treatment | Research | Health aspects | Histochemistry | Spinal muscular atrophy | Neonates | Spinal cord | Animal models | Laboratories | SMN protein | Childrens health | Clinical trials | Nervous system | Macrophages | Small intestine | Defects | Proteins | Atrophy | Enteric nervous system | Histopathology | Restoration | Transgenic animals | Rodents | Animal tissues | Constipation | Cell survival | Motor neurone disease | Neurons | Abnormalities | Muscles | Gastric emptying | Antisense oligonucleotides | Histology | Protein deficiency | Skeletal muscle | Studies | Musculoskeletal system | Biopsy | Gastrointestinal system | Infiltration | Gene therapy | Index Medicus
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2009, Volume 8, Issue 10, pp. 918 - 928
Journal Article
Journal Article
Journal Article
Nature communications, ISSN 2041-1723, 10/2018, Volume 9, Issue 1, pp. 4107 - 1
The original version of this article contained an error in Fig. 3. In panel c, the labels 'mdx' and 'mdx Ripk3-/-' were inadvertently inverted. This has now... 
Dystrophin | Rodents
Journal Article
Molecular Therapy - Nucleic Acids, ISSN 2162-2531, 2016, Volume 5, Issue 7, pp. e331 - e331
The identification of noninvasive biomarkers to monitor the disease progression in spinal muscular atrophy (SMA) is becoming increasingly important. MicroRNAs... 
antisense oligonucleotides therapy | microRNA | spinal muscular atrophy | biomarker | Antisense oligonucleotides therapy | micro RNA | CIRCULATING MICRORNAS | SURVIVAL | MEDICINE, RESEARCH & EXPERIMENTAL | SMA MICE | MOTOR-NEURON | BIOMARKERS | RESCUE | OLIGOMER | MOUSE MODEL | DISEASE | EXPRESSION | Biomarkers | Therapy | Spine | Medical disorders | MicroRNAs | Original
Journal Article
Development, ISSN 0950-1991, 06/2017, Volume 144, Issue 11, pp. e1.1 - e1.1
Journal Article