periaxin

01/01/2006 - "A major role is attributed to recent progress in the pathomorphology of various types of CMT1, 2,4, CMTX, and HMNSL, based on light and electron microscopic findings, morphometry, teased fiber studies, and new immunohisto-chemical results such as staining of certain periaxin domains in CMT4F."
10/01/2020 - "Mutations in the periaxin (PRX) gene cause CMT4F with an autosomal recessive early-onset demyelinating neuropathy and are extremely rare in a non-Romani white population. "
01/01/2019 - "AHNAK2 binds directly to periaxin which is encoded by the PRX gene, and PRX mutations are associated with another form of AR-CMT (CMT4F). "
01/01/2018 - "CMT4F is a recessive demyelinating form of the disease caused by mutations in the Periaxin ( PRX) gene . "
03/01/2008 - "Here we show that in mice lacking functional Periaxin (Prx) genes, a model of a recessive type of CMT disease known as CMT4F, neuromuscular junctions (NMJs) develop profound morphological changes in the preterminal region of motor axons. "

12/01/2021 - "We present pathology of the peripheral nerves of a patient with Adult-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation p.D651N. "
08/01/2021 - "Neuropathology of the spinal nerve roots, spinal cord, and brain in the first autopsied case of Charcot-Marie-Tooth disease 4F with a D651N mutation in the periaxin gene."
10/01/2020 - "A 71-nucleotide deletion in the periaxin gene in an Italian patient with late-onset slowly progressive demyelinating Charcot-Marie-Tooth disease."
02/01/2020 - "Novel mutation in the periaxin gene causal to Charcot-Marie-Tooth disease type 4F."
07/09/2019 - "A Case Report on Charcot-Marie-Tooth Disease with a Novel Periaxin Gene Mutation."

08/01/2013 - "Study of the periaxin gene should be considered in patients with severe demyelinating neuropathy associated with early infantile scoliosis. "

11/01/2002 - "In this study, we report the presence of autoantibodies to L-periaxin in sera from two of 12 patients with diabetes mellitus (type 2)-associated neuropathy and three of 17 patients with IgG monoclonal gammopathy of undetermined significance (MGUS) neuropathy, an autoimmune peripheral nerve disorder. "

11/01/2002 - "In this study, we report the presence of autoantibodies to L-periaxin in sera from two of 12 patients with diabetes mellitus (type 2)-associated neuropathy and three of 17 patients with IgG monoclonal gammopathy of undetermined significance (MGUS) neuropathy, an autoimmune peripheral nerve disorder. "