… characterization of the DMD mutation is important for genetic … -causing deletion or duplication,
complete gene sequencing … muscle wasting that is common in many types of muscular …

… Authorities recommend carrier screening for spinal muscular atrophy, … deletions reveals the
importance of CNV analysis in the … ALS is characterized by motor neuron degeneration and …

… conjunction with the CNS profile of DMD, I characterized … , as a result to muscle wasting
and decreased muscle activity. A … have large deletions in two mutational hot spots of the gene, …

… are primarily characterized by progressive muscle weakness … that general muscle weakness
due to muscle wasting is distinct … When a boy is affected by a mutation other than a deletion/…

… Using MRI to characterize muscle involvement and follow patients up, a picture … on spinal
muscular atrophy (SMA). He noted that SMA is a monogenic disorder that causes motor neuron …

… to CLIP analysis. … Spinal Muscular Atrophy (SMA) is a juvenile-onset neurodegenerative
disorder marked by the loss of lower motor neurons (MNs) from the anterior horn of the spinal …

… Authorities recommend carrier screening for spinal muscular atrophy, … deletions reveals the
importance of CNV analysis in the … ALS is characterized by motor neuron degeneration and …

… Spinal muscular atrophy (SMA) is genetic disease, characterized by progressive loss of somatic
motor neurons… In paper IV, we try to elucidate why some motor neurons are resistant and …

… Additionally, proteomic analysis showed that chronic … is a familial muscle disease characterised
by muscle wasting and … deletion hotspots have been identified within the DMD gene, …

… characteristics of DMD pathophysiology observed in muscle tissue are high susceptibility
to stretch- induced muscle damage, impaired calcium homeostasis, enhanced generation of …