Results 11 to 20 of about 2,447 (165)
Recent Advances in Oligonucleotide Therapeutics in Oncology [PDF]
, 2021 Cancer is one of the leading causes of death worldwide. Conventional therapies, including surgery, radiation, and chemotherapy have achieved increased survival rates for many types of cancer over the past decades.
Sarah D. Diermeier +2 more
core +2 more sources
Pharmacological treatment for familial amyloid polyneuropathy [PDF]
, 2020 BACKGROUND: Disease-modifying pharmacological agents for transthyretin (TTR)-related familial amyloid polyneuropathy (FAP) have become available in the last decade, but evidence on their efficacy and safety is limited.
Tamburin, Stefano +20 more
core +1 more source
Portuguese-type amyloid neuropathy in an English family [PDF]
Postgraduate Medical Journal, 1980 Abstract A 31-year-old woman thought to be suffering from a psychiatric illness was found to have peripheral and autonomic neuropathy, keratoconjunctivitis sicca and vitreous opacities. Her mother had died 10 years previously, aged 42 years from an undiagnosed illness with similar features.
openaire +2 more sources
Renal tubular acidosis in hereditary transthyretin amyloidosis (ATTRv) [PDF]
Brazilian Journal of NephrologyIntroduction: Hereditary transthyretin amyloidosis (ATTRv) is a severe autosomal dominant systemic disease. It affects the peripheral and autonomic nervous systems, heart, kidneys, and eyes.
Priscilla Cardim Fernandes +3 more
doaj +1 more source
Val50Ala variant of familial amyloid neuropathy – a rare case in the Czech Republic [PDF]
Orphanet Journal of Rare Diseases, 2015 Background Hereditary amyloidosis represents approximately 4% of the total cases of amyloidoses. The most frequent familial type is caused by deposition of mutated transthyretin (TTR, prealbumin). So far it has been identified more than 100 mutations in the transthyretin gene and type of causal mutation is also characterized by a clinical picture of ...
Pika, Tomas +5 more
openaire +1 more source
Emerging trends in nanomedicine: The role of RNAi-based therapies and onpattro’s clinical journey [PDF]
Iranian Journal of Basic Medical SciencesNanomedicine has transformed therapeutic strategies by enabling precise delivery of nucleic acid-based drugs, including small interfering RNA (siRNA), messenger RNA (mRNA), and antisense oligonucleotides.
Dilpreet Singh +4 more
doaj +1 more source
Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families [PDF]
Journal of Medical Genetics, 2003 Among the hereditary systemic amyloidosis, transthyretin (TTR) neuropathies (OMIM #176300) are devastating disorders with an autosomal dominant transmission, expressed mainly as a progressive fibre length dependent sensorimotor polyneuropathy and life threatening autonomic dysfunction.1 Initially, the condition was recognised in northern Portugal, in ...
V, Planté-Bordeneuve +7 more
openaire +2 more sources
, 2020 BACKGROUND: Hereditary peripheral neuropathies are inherited disorders affecting the peripheral nervous system, including Charcot-Marie-Tooth disease, familial amyloid polyneuropathy and hereditary sensory and motor neuropathies.
Jennings, Matthew +3 more
core +1 more source
Disphosphonates cardiac uptake in familial amyloid neuropathy: Comparison between DPD and HMDP [PDF]
Orphanet Journal of Rare Diseases, 2015 Background Familial amyloid polyneuropathy (FAP) is a severe hereditary disease, due to production by the liver of a genetic variant transthyretin (TTR) resulting in tissue amyloid deposits. Cardiac involvement is of major prognostic value. Diphosphonate scintigraphy has been proposed as a diagnostic tool for TTR-related cardiac amyloidosis, but there ...
Regaieg, Hamza +7 more
openaire +1 more source
, 2020 © 2020 Elsevier Masson SAS. All rights reserved.Objective: To test motor fiber excitability in early affected patients with transthyretin (TTR)-type familial amyloid polyneuropathy (TTR-FAP) before and during tafamidis treatment.
Brum, Marisa +5 more
core +1 more source