Novel FUS mutation Y526F causing rapidly progressive familial amyotrophic lateral sclerosis
Related Articles
Effect of familial clustering in the genetic screening of 235 French ALS families
Objectives To determine whether the familial clustering of amyotrophic lateral sclerosis (ALS) cases and the phenotype of the disease may help identify the pathogenic genes…
Adoption of focused ultrasound thalamotomy for essential tremor: why so much fuss about FUS?
Background Focused ultrasound (FUS) was approved as a new treatment modality for essential tremor (ET) in 2016. The goal of this study was to quantify…
Possible Somatic Mosaicism of Novel FUS Variant in Familial Amyotrophic Lateral Sclerosis
Fused–in–sarcoma (FUS) mutation is associated with a familial amyotrophic lateral sclerosis (fALS) characterized by early onset and rapid progression. Here, the authors describe a rare…
Plasma Neurofilament Light for Prediction of Disease Progression in Familial Frontotemporal Lobar Degeneration
Objective We tested the hypothesis that plasma neurofilament light chain (NfL) identifies asymptomatic carriers of familial frontotemporal lobar degeneration (FTLD)–causing mutations at risk of disease…
Comparison of clinical rating scales in genetic frontotemporal dementia within the GENFI cohort
Background Therapeutic trials are now underway in genetic forms of frontotemporal dementia (FTD) but clinical outcome measures are limited. The two most commonly used measures,…
English
العربية
简体中文
Nederlands
Français
Deutsch
Italiano
Português
Русский
Español
Responses