Results 31 to 40 of about 5,273 (196)
Anton Dormer,1 Mahesh Narayanan,1 Jerome Schentag,1 Daniel Achinko,1 Elton Norman,1 James Kerrigan,2 Gary Jay,2 William Heydorn2 1Research and Development, Pepvax, Inc, Silver Spring, MD, USA; 2Research and Development, Navintus, Inc, Princeton, NJ ...
Dormer A +7 more
doaj
Background: Small fiber polyneuropathy (SFN) involves ectopic firing and degeneration of small-diameter, somatic/autonomic peripheral axons. Causes include diabetes, inflammation and rare pathogenic mutations, including in SCN9-11 genes that encode small
Mary A. Kelley, Anne Louise Oaklander
doaj +1 more source
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain. [PDF]
BACKGROUND: Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or malfunction of, nociceptors.
Ahmed, Mushtaq +7 more
core +3 more sources
Background Individuals with an extremely rare inherited condition, termed Congenital Insensitivity to Pain (CIP), do not feel pain in response to noxious stimuli.
Wen He +10 more
doaj +1 more source
Background and Objective: Radiofrequency ablation (RFA) is a safe and less invasive technique that uses an electric current to damage nerve tissue to stop it from sending pain signals.
Li Su +12 more
doaj +1 more source
Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui +2 more
core +2 more sources
Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia [PDF]
Mutations in SCN9A have been reported in (1) congenital insensitivity to pain (CIP); (2) primary erythromelalgia; (3) paroxysmal extreme pain disorder; (4) febrile seizures and recently (5) small fibre sensory neuropathy. We sought to investigate for SCN9A mutations in a clinically well-characterised cohort of patients with CIP and erythromelalgia.We ...
Klein, Christopher J +7 more
openaire +2 more sources
The Nav1.7 voltage-gated sodium channel, encoded by SCN9A, is critical for human pain perception yet the transcriptional and post-transcriptional mechanisms that regulate this gene are still incompletely understood.
Jennifer Koenig +11 more
doaj +1 more source
Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core +1 more source
Genetic polymorphisms of SCN9A are associated with oxaliplatin-induced neuropathy [PDF]
Oxaliplatin is a chemotherapy agent active against digestive tumors. Peripheral neuropathy is one of the most important dose-limiting toxicity of this drug. It occurs in around 60-80% of the patients, and 15% of them develop severe neuropathy. The pathophysiology of oxaliplatin neurotoxicity remains unclear.
Sereno, María +12 more
openaire +6 more sources

