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

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 …

Prader–Willi syndrome (PWS) is a complex neurogenetic disorder with considerable clinical
variability that is thought in large part to be the result of a hypothalamic defect. PWS results …

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

Prader-Willi syndrome (PWS) is a complex neurogenetic disorder. The phenotype is likely to
be a contiguous gene syndrome involving genes which are paternally expressed only …

Charcot-Marie-Tooth (CMT) disorders are a clinically and genetically heterogeneous group
of hereditary motor and sensory neuropathies characterized by muscle weakness and …

In Plasmodium falciparum, the causative agent of human malaria, the catalytic subunit gene
of cAMP‐dependent protein kinase (Pfpka‐c) exists as a single copy. Interestingly, its …

The cDNA encoding Pfmap-2, an enzyme of the human malaria parasite Plasmodium
falciparum, was cloned, sequenced, and expressed in Escherichia coli. The open reading …

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth
neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11 | Journal of …

CMT2B1, an axonal subtype (MIM 605588) of the Charcot‐Marie‐Tooth disease, is an
autosomal recessive motor and sensory neuropathy characterized by progressive muscular …