Little is known about the pathophysiology of human senescence. Hutchinson-Gilford progeria
syndrome (HGPS) is an exceedingly rare but typical progeria, clinically characterized by …

Several human progerias, including Hutchinson-Gilford progeria syndrome (HGPS), are caused
by the accumulation at the nuclear envelope of farnesylated forms of truncated prelamin …

The Charcot-Marie-Tooth (CMT) disorders comprise a group of clinically and genetically
heterogeneous hereditary motor and sensory neuropathies, which are mainly characterized by …

This paper describes the sequence of construction of a cell nuclei classification model by the
analysis, the characterization and the classification of shape and texture. We describe first …

Hutchinson-Gilford progeria syndrome (HGPS) is caused by a point mutation in the LMNA
gene that activates a cryptic donor splice site and yields a truncated form of prelamin A called …

Restrictive dermopathy (RD), also called tight skin contracture syndrome (OMIM 275210), is
a rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin …

Restrictive dermopathy (RD) is characterized by intrauterine growth retardation, tight and
rigid skin with prominent superficial vessels, bone mineralization defects, dysplastic clavicles, …

The rolandic and sylvian fissures divide the human cerebral hemispheres and the adjacent
areas participate in speech processing. The relationship of rolandic (sylvian) seizure …

Background Investigations into both the pathophysiology and therapeutic targets in muscle
dystrophies have been hampered by the limited proliferative capacity of human myoblasts. …

Objective To describe the phenotypic spectrum of dysferlin (DYSF) gene mutations (which
cause dysferlinopathies, autosomal recessive muscular dystrophies) in patients with a …