Background and Objectives Putative loss-of-function (pLOF) ABCA7 variants that increase Alzheimer disease (AD) risk were identified; however, deep phenotypic characterization of these variants in mutation…
Clinical case A 24-year-old man of Nigerian heritage presented to the emergency department with a 1-day history of acute, ascending limb weakness. This had begun…
A minority (10%–15%) of cases of amyotrophic lateral sclerosis (ALS), the most common form of motor neurone disease (MND), are currently attributable to pathological variants…
Background and Objectives To perform the first screen of 44 amyotrophic lateral sclerosis (ALS) genes in a cohort of African genetic ancestry individuals with ALS…
Abstract Objectives The main aim of the study is to investigate the performance of a two-part stroke scale for screening and subsequent severity assessment combined…
A novel composite scale (PROOF, incorporates patient’s perception of disease burden to motor functional evaluation for ALS. Efficacy of therapeutics for neuromuscular diseases has been…
Objective To use a robust statistical methodology to develop and validate clinical rating scales quantifying longitudinal motor and cognitive dysfunction in sporadic Creutzfeldt-Jakob disease (sCJD)…
Objective There is growing evidence that the course of amyotrophic lateral sclerosis (ALS) may be influenced beneficially by applying high-caloric food supplements (HCSs). However, it…
Abstract Objectives Chromosome 3-linked frontotemporal dementia (FTD-3) is caused by a c.532-1G > C mutation in the CHMP2B gene. It is extensively studied in a Danish family…
English
العربية
简体中文
Nederlands
Français
Deutsch
Italiano
Português
Русский
Español