The phenotypic variability of amyotrophic lateral sclerosis

B Swinnen, W Robberecht - Nature Reviews Neurology, 2014 - nature.com
Classic textbook neurology teaches that amyotrophic lateral sclerosis (ALS) is a
degenerative disease that selectively affects upper and lower motor neurons and is fatal 3–5 …

Changes in cognition and behaviour in amyotrophic lateral sclerosis: nature of impairment and implications for assessment

LH Goldstein, S Abrahams - The Lancet Neurology, 2013 - thelancet.com
Increased awareness of cognitive and behavioural change in amyotrophic lateral sclerosis
has been driven by various clinic-based and population-based studies. A frontotemporal …

Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model

HJ Westeneng, TPA Debray, AE Visser… - The Lancet …, 2018 - thelancet.com
Background Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive, fatal motor
neuron disease with a variable natural history. There are no accurate models that predict the …

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

M Van Blitterswijk, MA Van Es… - Human molecular …, 2012 - academic.oup.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with a substantial
heritable component. In pedigrees affected by its familial form, incomplete penetrance is …

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis

JD Rohrer, AM Isaacs, S Mizielinska, S Mead… - The Lancet …, 2015 - thelancet.com
C9orf72 hexanucleotide repeat expansions are the most common cause of familial
frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) worldwide. The …

TDP-43 pathology and neuronal loss in amyotrophic lateral sclerosis spinal cord

J Brettschneider, K Arai, K Del Tredici, JB Toledo… - Acta …, 2014 - Springer
We examined the phosphorylated 43-kDa TAR DNA-binding protein (pTDP-43) inclusions
as well as neuronal loss in full-length spinal cords and five selected regions of the central …

Familial amyotrophic lateral sclerosis

K Boylan - Neurologic clinics, 2015 - neurologic.theclinics.com
Familial Amyotrophic Lateral Sclerosis - Neurologic Clinics Skip to Main Content Advertisement
Neurologic Clinics Log in Register Log in Subscribe Claim Skip menu theclinics.com …

MRI clustering reveals three ALS subtypes with unique neurodegeneration patterns

HHG Tan, HJ Westeneng, AD Nitert… - Annals of …, 2022 - Wiley Online Library
Objective The purpose of this study was to identify subtypes of amyotrophic lateral sclerosis
(ALS) by comparing patterns of neurodegeneration using brain magnetic resonance …

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

J Cooper-Knock, PJ Shaw, J Kirby - Acta neuropathologica, 2014 - Springer
Abstract The GGGGCC (G 4 C 2) repeat expansion in C9ORF72 is the most common cause
of familial amyotrophic lateral sclerosis (ALS), frontotemporal lobar dementia (FTLD) and …

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion …

M Van Blitterswijk, M DeJesus-Hernandez… - Current opinion in …, 2012 - journals.lww.com
How do C9ORF72 repeat expansions cause amyotrophic lateral s... : Current Opinion in
Neurology How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and …