Results 51 to 60 of about 319,403 (201)
Arquivos de Neuro-PsiquiatriaBackground Hereditary transthyretin amyloidosis (ATTRv) is an inherited, progressive, and fatal disease still largely underdiagnosed. Mutations in the transthyretin (TTR) gene cause the TTR protein to destabilize, misfold, aggregate, and ...
Moises Dias +9 more
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Neuropathology of a patient with Parkinson's disease and biallelic expansion in RFC1
Brain Pathology, EarlyView.This is the first report of neuropathology in biallelic RFC1 expansion‐associated Parkinson’s disease (PD). It shows a synucleinopathy of intraneuronal Lewy bodies consistent with the clinical PD diagnosis while neuropathological CANVAS (Cerebellar Ataxia with Neuropathy and bilateral Vestibular Areflexia) features were absent.
Jussi Sipilä +3 more
wiley +1 more source
Mecanismos moleculares que relacionam a hipercolesterolemia familiar à doença de Alzheimer [PDF]
, 2015 Tese (doutorado) - Universidade Federal de Santa Catarina, Centro de Ciências Biológicas, Programa de Pós-Graduação em Bioquímica, Florianópolis, 2015.A hipercolesterolemia familiar é uma doença do metabolismo das lipoproteínas causada por anormalidades ...
Oliveira, Jade de
core
Is there a role for cannabidiol in obesity, metabolic syndrome and binge eating?
British Journal of Pharmacology, EarlyView.Cannabidiol (CBD) is one of the most abundant phytocannabinoids isolated from the Cannabis sativa plant. CBD is a lipophilic, non‐intoxicating substance that differently from Δ9‐tetrahydrocannabinol (Δ9‐THC) does not present the typical profile of a drug of abuse.
Luca Botticelli +7 more
wiley +1 more source
Iranian Journal of Medical Sciences, 2016 Familial amyloid polyneuropathy (FAP) type IV (FINNISH) is a rare clinical entity with challenging neuropathy and cosmetic deficits. Amyloidosis can affect peripheral sensory, motor, or autonomic nerves.
Arash Babaei-Ghazani +1 more
doaj
Upper limb neuropathy such as carpal tunnel syndrome as an initial manifestation of ATTR Val30Met familial amyloid polyneuropathy [PDF]
Amyloid, 2010 We report here two patients with amyloidogenic transthyretin (ATTR) Val30Met familial amyloid polyneuropathy (FAP) who developed numbness in both hands and were diagnosed as having bilateral carpal tunnel syndrome (CTS). In both patients systemic TTR amyloidosis consisting of polyneuropathy affecting both upper and lower limbs and/or autonomic ...
Kana Tojo +5 more
openaire +1 more source
Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease
Clinical Genetics, EarlyView.Whole‐exome sequencing of 111 patients with suspected familial cerebral small vessel disease (CSVD) identified novel copy number variants in four patients across NOTCH3, LMNB1, and COL4A2, using bioinformatic and molecular techniques. These validated CNVs suggest structural variation is an underrecognized potential causal contributor to monogenic CSVD ...
Solomon K. Guyler +5 more
wiley +1 more source
Protein mis-folding and human disease
, 2010 Serum Amyloid P Component (SAP), a putative molecular chaperone, is a homopentamericplasma protein of 25kDa subunits. It binds to the amyloid fibrils ofmisfolded proteins, which cause amyloidosis in humans. SAP not only stabilizesamyloid fibrils but also
Pal, Mohinder
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European Journal of Haematology, EarlyView.ABSTRACT Light chain monoclonal gammopathy of undetermined significance (LC‐MGUS) is defined by an abnormal serum free light chain ratio and elevated involved light chain in the absence of a detectable immunoglobulin heavy chain on immunofixation and of end‐organ damage attributable to a plasma cell disorder.
Sigurður Yngvi Kristinsson +2 more
wiley +1 more source
Cerebral amyloid angiopathy : new insights from transgenic mice [PDF]
, 2004 Cerebral amyloid angiopathy (CAA) is characterized by the deposition of congophilic material within the walls of small to medium-sized blood vessels of the brain and leptomeninges.
Herzig, Martin C.
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