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Methods in Molecular Biology, ISSN 1064-3745, 2018, Volume 1828, pp. 365 - 379
Journal Article
Methods in Molecular Biology, ISSN 1064-3745, 2018, Volume 1828, pp. 79 - 90
Journal Article
Methods in Molecular Biology, ISSN 1064-3745, 2018, Volume 1828, pp. 263 - 273
Journal Article
Methods in Molecular Biology, ISSN 1064-3745, 2018, Volume 1828, pp. 127 - 139
Exon skipping through the use of antisense oligonucleotides (AOs) is currently one of the most promising approaches for treating Duchenne muscular dystrophy... 
Clinical trial candidates | Immortalized DMD patient muscle cells | Dystrophin quantification | Duchenne/Becker muscular dystrophy (DMD/BMD) | Golodirsen | Eteplirsen | Human telomerase reverse transcriptase (hTERT) | Cyclin-dependent-kinase 4 (Cdk4) | NS-065/NCNP-01 | Primary muscle cells | Index Medicus
Journal Article
09/2011, ISBN 1405185341, Volume 2, 13
Objectives: The EFNS guidelines on the molecular diagnosis of motoneuron disorders, neuropathies and myopathies are designed to summarize the possibilities and... 
Charcot‐Marie‐Tooth disease‐disease onset in CMT, progression slow | molecular diagnosis of inherited neuropathies | amyotrophic lateral sclerosis‐familial forms, with amyotrophic lateral sclerosis (ALS) | other myopathies‐distal myopathies, muscular dystrophies with distal upper and lower extremities | genetic basis for DM1‐a CTG repeats expansion in DMPK gene on 19q13 | molecular diagnosis of neurogenetic disorders‐motoneuron, muscle disorders | muscle dystrophies‐Duchenne/Becker muscular dystrophy (DMD/BMD), X‐linked recessive condition | proximal spinal muscular atrophy (SMA)‐common and severe autosomal‐recessive diseases of children | myofibrillar myopathies‐and specific cytoplasmatic inclusions | EFNS guidelines, and motoneuron disorders‐polyneuropathies and myopathies | Molecular diagnosis of neurogenetic disorders-motoneuron, muscle disorders | Proximal spinal muscular atrophy (SMA)-common and severe autosomal-recessive diseases of children | Myofibrillar myopathies-and specific cytoplasmatic inclusions | Charcot-Marie-Tooth disease-disease onset in cmt, progression slow | Molecular diagnosis of inherited neuropathies | Muscle dystrophies-Duchenne/Becker muscular dystrophy (dmd/bmd), X-linked recessive condition | Other myopathies-distal myopathies, muscular dystrophies with distal upper and lower extremities | Amyotrophic lateral sclerosis-familial forms, with amyotrophic lateral sclerosis (ALS) | EFNS guidelines, and motoneuron disorders-polyneuropathies and myopathies | Genetic basis for DM1-a CTG repeats expansion in dmpk gene on 19q13
Book Chapter
Methods in Molecular Biology, ISSN 1064-3745, 2018, Volume 1828, pp. 31 - 55
Exon skipping is a therapeutic approach that is feasible for various genetic diseases and has been studied and developed for over two decades. This approach... 
CRISPR Cas9/Cpf1 genome editing | Laminin-alpha 2 | Duchenne/Becker muscular dystrophy (DMD/BMD) | Dystrophic epidermolysis bullosa (DEB) | Myotonic dystrophy | Exon skipping | Usher syndrome | Eteplirsen (Exondys 51) | Fibrodysplasia ossificans progressiva (FOP) | Nusinersen (Spinraza) | Index Medicus
Journal Article
Journal Article
Journal of personalized medicine, ISSN 2075-4426, 03/2019, Volume 9, Issue 1, p. 16
Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked muscle disorders caused by mutations of the gene, which encodes the subsarcolemmal protein... 
exon skipping therapy | Duchenne/Becker muscular dystrophy (DMD/BMD) | antisense oligonucleotide | DMD gene | readthrough therapy | DMD model animal | gene therapy | dystrophin | molecular diagnosis
Journal Article
Biomedicines, ISSN 2227-9059, 01/2018, Volume 6, Issue 1, p. 1
Duchenne muscular dystrophy (DMD) is a lethal disorder caused by mutations in the gene. Antisense-mediated exon-skipping is a promising therapeutic strategy... 
Animal models | Rodents | Exon skipping | Duchenne's muscular dystrophy | Antisense oligonucleotides | FDA approval | Dystrophy | Dystrophin | Muscular dystrophy
Journal Article
Archives of Biological Sciences, ISSN 0354-4664, 2012, Volume 64, Issue 2, pp. 787 - 792
Duchenne and Becker muscular dystrophy (DMD/BMD) are severe X-linked neuromuscular disorders caused by mutations in the dystrophin gene. Our aim was to... 
SYBR | green | Real-time PCR | Duchenne/Becker muscular dystrophy | carrier detection | ΔΔCt method | DIAGNOSIS | DUPLICATIONS | SYBR (R) Green | DMD/BMD | DMD GENE | IDENTIFICATION | FEMALE CARRIERS | Delta Delta Ct method | POLYMERASE-CHAIN-REACTION | BIOLOGY | DUCHENNE MUSCULAR-DYSTROPHY | DELETIONS | SYBR® Green
Journal Article
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