Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
Problematic Internet Use in Frontotemporal Dementia: A Case Series
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The present study investigated problematic internet use (PIU) among 61 patients with frontotemporal dementia (FTD) compared to a cohort of 354 patients with mild cognitive impairment (MCI) and Alzheimer's dementia. PIU was identified in 22.9% of FTD patients compared to only 0.8% of AD patients (p < 0.001). Behaviors included compulsive social
Daniele Urso +9 more
wiley +1 more source
Using runs of homozygosity to detect genomic regions associated with susceptibility to infectious and metabolic diseases in dairy cows under intensive farming conditions [PDF]
, 2016 Filippo Biscarini +4 more
openalex +1 more source
Association Between Motor Pathway Damage and Motor Deficit in Upper and Lower Limb in People With MS
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Corticospinal tract damage is common in people with MS, but the degree of clinical symptoms varies. We hypothesize that corticospinal tract lesions are more extensive and severe in people with MS with motor impairments in both upper and lower limbs.
Mathilde Liffran +13 more
wiley +1 more source
"ABO Blood Group Profile Frequencies and Relationship in COVID-19 Disease Susceptibility and Severity in Lagos, Nigeria" [PDF]
, 2022 Ngozi Mirabel Otuonye
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou +16 more
wiley +1 more source
A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease [PDF]
, 2012 Ali Amin Al Olama +99 more
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Nucleotide-binding oligomerization domain (NOD) signaling defects and cell death susceptibility cannot be uncoupled in X-linked inhibitor of apoptosis (XIAP)-driven inflammatory disease [PDF]
, 2017 Steven M. Chirieleison +5 more
openalex +1 more source