Amyotrophic lateral sclerosis

MA Van Es, O Hardiman, A Chio, A Al-Chalabi… - The Lancet, 2017 - thelancet.com
Amyotrophic lateral sclerosis is characterised by the progressive loss of motor neurons in
the brain and spinal cord. This neurodegenerative syndrome shares pathobiological …

Gene discovery in amyotrophic lateral sclerosis: implications for clinical management

A Al-Chalabi, LH Van Den Berg, J Veldink - Nature Reviews Neurology, 2017 - nature.com
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease predominantly affecting
upper and lower motor neurons. The disease leads to relentlessly progressive weakness of …

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

Nearly 30 years of animal models to study amyotrophic lateral sclerosis: a historical overview and future perspectives

T Bonifacino, RA Zerbo, M Balbi, C Torazza… - International journal of …, 2021 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a fatal, multigenic, multifactorial, and non-cell
autonomous neurodegenerative disease characterized by upper and lower motor neuron …

Endoplasmic reticulum membrane contact sites, lipid transport, and neurodegeneration

A Guillén-Samander… - Cold Spring Harbor …, 2023 - cshperspectives.cshlp.org
The Endoplasmic Reticulum (ER) is an endomembrane system that plays a multiplicity of
roles in cell physiology and populates even the most distal cell compartments, including …

Pathogenesis of FUS-associated ALS and FTD: insights from rodent models

M Nolan, K Talbot, O Ansorge - Acta neuropathologica communications, 2016 - Springer
Disruptions to genes linked to RNA processing and homeostasis are implicated in the
pathogenesis of two pathologically related but clinically heterogeneous neurodegenerative …

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 …

The genetics of amyotrophic lateral sclerosis: current insights

AA Alsultan, R Waller, PR Heath… - Degenerative neurological …, 2016 - Taylor & Francis
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder that results
in loss of the upper and lower motor neurons from motor cortex, brainstem, and spinal cord …

Dissection of genetic factors associated with amyotrophic lateral sclerosis

CS Leblond, HM Kaneb, PA Dion, GA Rouleau - Experimental neurology, 2014 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a fatal late onset neurological disorder characterized
by motor neuron degeneration in the primary motor cortex, brainstem and spinal cord. The …

Identification of epigenetically altered genes in sporadic amyotrophic lateral sclerosis

C Figueroa-Romero, J Hur, DE Bender, CE Delaney… - PloS one, 2012 - journals.plos.org
Amyotrophic lateral sclerosis (ALS) is a terminal disease involving the progressive
degeneration of motor neurons within the motor cortex, brainstem and spinal cord. Most …