Results 41 to 50 of about 4,617 (234)
TTR Gly83Arg Mutation: Beyond Familial Vitreous Amyloidosis
Frontiers in Neurology, 2022 BackgroundGly83Arg variation is a type of TTR mutation specific to the Chinese population. Patients of hereditary transthyretin amyloidosis (ATTR) with Gly83Arg variation predominantly present with blurred vision and most of these cases are reported by ...
Zhenxian Li +15 more
doaj +1 more source
Corino de Andrade disease: mechanisms and impact on reproduction [PDF]
, 2017 Familial amyloid polyneuropathy was first described by Corino de Andrade in 1952 in Northern Portugal. It is a fatal autosomal dominant neurodegenerative disorder characterized by a progression of neurologic symptoms, beginning early in the reproductive ...
Barros, A. +3 more
core +1 more source
Arthritis Care &Research, EarlyView.Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo +88 more
wiley +1 more source
Arquivos de Neuro-Psiquiatria, 1996 Peripheral neuropathies affect children more often than the young and middle age adults, but less frequently than the elderly. They differ from those in the adults because of the high incidence of hereditary neuropathies, including those associated with ...
Leila Chimelli
doaj +1 more source
SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain
Journal of Veterinary Internal Medicine, 2023 Background Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSANs) are a rare group of genetic disorders causing inability to feel pain.
Rodrigo Gutierrez‐Quintana +5 more
doaj +1 more source
F-waves persistence in peripheral sensory syndromes
Arquivos de Neuro-Psiquiatria, 2023 Background The distinction between sensory neuronopathies (SN), which is by definition purely sensory, and sensory polyneuropathies (SP) and sensory multineuropathies (SM) is important for etiologic investigation and prognosis estimation ...
Fabricio Diniz de Lima +8 more
doaj +1 more source
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies [PDF]
, 2017 Hereditary neuropathies form a heterogeneous group of disorders for which over 40 causal genes have been identified to date. Recently, dominant mutations in the transient receptor potential vanilloid 4 gene were found to be associated with three distinct
Auer-Grumbach, Michaela +22 more
core
Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro [PDF]
, 2018 Hereditary sensory neuropathy type 1 (HSN-1) is a peripheral neuropathy most frequently caused by mutations in the SPTLC1 or SPTLC2 genes, which code for two subunits of the enzyme serine palmitoyltransferase (SPT).
Abramov, AY +7 more
core +1 more source
Advanced Healthcare Materials, EarlyView.Pressure skin wounds are frequent complications after spinal cord injury (SCI), with impaired healing due to vascular and immune deficits. Elastin‐like polypeptides (ELP) fused to α‐MSH (MSH‐ELP) or MCP‐1 (MCP‐ELP) are developed and tested on these wounds. The resulting nanoparticles are non‐toxic and bioactive, and they enhance macrophage recruitment,
Suneel Kumar +7 more
wiley +1 more source
The neuroinflammatory role of Schwann cells in disease
Neurobiology of Disease, 2013 Peripheral neuropathies are associated with a variety of clinical symptoms ranging from motor and sensory symptoms to autonomic dysfunction. The primary disease causes for peripheral nerve disorders are also very heterogeneous, including genetic causes ...
Elke Ydens +5 more
doaj +1 more source