DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Spinal Muscular Atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.040 Biomarker disease BEFREE Impressive preclinical and clinical data are published regarding the usage of AONs in exon-skipping and splice modulation strategies to increase dystrophin production in Duchenne muscular dystrophy (DMD) and survival of motor neuron (SMN) production in spinal muscular atrophy (SMA). 24620745 2014
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.040 Biomarker disease BEFREE However, by manipulation of pre-mRNA splicing using antisense oligonucleotides, defective transcripts from the DMD gene and from the SMN2 gene in SMA can be modified to once again produce protein and restore function. 23631896 2013
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.040 Biomarker disease BEFREE We reviewed creatine kinase (CK), lactate dehydrogenase (LDH), aspartate transaminase (AST) levels and CK/lDH in Chinese patients with Duchene/Becker muscular dystrophy (DMD/BMD), facioscapulohumeral muscular dystrophy (FSHD), limb-girdle muscular dystrophy (LGMD), polymyositis (PM), lipid storage myopathy (LSM), motor neuron disease (MND) and spinal muscular atrophy (SMA). 22137979 2012
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		0.040 Biomarker disease BEFREE Becker muscular dystrophy or spinal muscular atrophy?--Dystrophin studies resolve conflicting results of electromyography and muscle biopsy. 1822794 1991