Results 41 to 50 of about 5,744 (198)
Elongator promotes neuritogenesis via regulation of tau stability through acly activity
Frontiers in Cell and Developmental Biology, 2022 The six subunits (Elp1 to Elp6) Elongator complex promotes specific uridine modifications in tRNA’s wobble site. Moreover, this complex has been indirectly involved in the regulation of α-tubulin acetylation in microtubules (MTs) via the stabilization of
Michal Shilian +4 more
doaj +1 more source
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine [PDF]
, 2017 BACKGROUND: Human Phenotype Ontology (HPO) has risen as a useful tool for precision medicine by providing a standardized vocabulary of phenotypic abnormalities to describe presentations of human pathologies; however, there have been relatively few ...
Fang, H. +8 more
core +1 more source
Arthritis Care &Research, Accepted Article.Objectives 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. To help patients and providers in the decision‐making process, we developed
Anahita Deboo +19 more
wiley +1 more source
Advancing Precision Medicine through clinical grade whole genome sequencing, return of results and deep brain stimulation [PDF]
, 2013 CSHL Meetings and Course: Precision Medicine: Personal Genomes & Pharmacogenomics, November 13th - November 16th ...
Lyon, Gholson J.
core
Anti-NMDA receptor encephalitis presenting with total insomnia--a case report [PDF]
, 2014 Fatal insomnia (FI) is the first diagnosis to be considered by most neurologists when approaching a patient presenting with total insomnia followed by personality and cognitive changes, disturbance of alertness, autonomic hyperactivation and movement ...
Bento, C +4 more
core +1 more source
Cardiovascular morbidity following epilepsy: A nationwide retrospective cohort study in South Korea
Epilepsia Open, EarlyView.Abstract Objective This study evaluated the long‐term risk of major cardiovascular diseases (CVDs) in patients with epilepsy using a nationwide cohort, aiming to address critical gaps in population‐based evidence on brain–heart interactions. Methods Data from the Korean National Health Insurance Service (2002–2013) were analyzed.
Youngoh Bae +5 more
wiley +1 more source
Ataxias esporádicas de início no adulto: um desafio diagnóstico [PDF]
, 2014 Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. There are several disease categories that may manifest with sporadic ataxia: toxic causes, immune-mediated ataxias, vitamin deficiency, infectious diseases,
Albuquerque, Marcus Vinicius Cristino De +3 more
core +7 more sources
Fatal Familial Insomnia: An Overview [PDF]
, 2011 Fatal Familial Insomnia (FFI) is an insidious prion disorder that tends to manifest itself as a patient reaches middle age following a pattern consistent with autosomal dominance.
Schools, Eric
core
Prodromal Lewy Body Symptoms and α‐Synuclein Seeding in Idiopathic Olfactory Dysfunction
Movement Disorders Clinical Practice, EarlyView.Abstract Background Early identification of pathological α‐synuclein deposition (αSynD) may improve understanding of Lewy body disorder (LBD) progression and enable timely disease‐modifying treatments. Objectives We investigated αSynD using a seed amplification assay and assessed prodromal LBD symptoms in individuals with idiopathic olfactory ...
Oskar Hoffmann McWilliam +15 more
wiley +1 more source
Disease Models & Mechanisms, 2017 Hereditary sensory and autonomic neuropathies (HSANs) are a genetically and clinically diverse group of disorders defined by peripheral nervous system (PNS) dysfunction.
Marta Chaverra +15 more
doaj +1 more source