Since the identification of the first disease causing mutation in the gene coding for emerin, a
transmembrane protein of the inner nuclear membrane, hundreds of mutations and variants …

Peripheral neuropathies are characterized by a progressive and length-dependent loss of
peripheral nerve function. This can be caused either by genetic defects, classified as …

Hereditary motor and sensory neuropathies (HMSN) or Charcot–Marie–Tooth (CMT)
diseases are the most common degenerative disorders of the peripheral nervous system …

Mutations in the LMNA gene encoding lamins A/C are responsible for more than ten different
disorders called laminopathies which affect various tissues in an isolated (striated muscle …

Charcot-Marie-Tooth (CMT) disease is a progressive, peripheral neuropathy and the most
commonly inherited neurological disorder. Clinical manifestations of CMT mutations are …

Abstract The prevalence of Charcot‐Marie‐Tooth (CMT) disease or hereditary motor and
sensory neuropathy (HMSN) varies in different populations. While in some countries of …

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological
disorders. It comprises a group of diseases caused by mutations in genes involved in …

Abstract Background and aims Charcot‐Marie‐Tooth disease (CMT) is the most common
inherited peripheral neuropathy characterised by a high clinical and genetic heterogeneity …

One of the main factors associated with worse prognosis in oncology is metastasis, which is
based on the ability of tumor cells to migrate from the primary source and to form secondary …

Background Deficient nucleotide excision repair (NER) activity causes a variety of
autosomal recessive diseases including xeroderma pigmentosum (XP) a disorder which pre …