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 …

Genetics of amyotrophic lateral sclerosis

M Ghasemi, RH Brown - Cold Spring …, 2018 - perspectivesinmedicine.cshlp.org
Amyotrophic lateral sclerosis (ALS) is a devastating, uniformly lethal degenerative disorder
of motor neurons that overlaps clinically with frontotemporal dementia (FTD). Investigations …

Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion

D Sareen, JG O'Rourke, P Meera… - Science translational …, 2013 - science.org
Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative condition characterized
by loss of motor neurons in the brain and spinal cord. Expansions of a hexanucleotide …

The role of immune and inflammatory mechanisms in ALS

PA McCombe, RD Henderson - Current molecular medicine, 2011 - ingentaconnect.com
Amyotrophic lateral sclerosis (ALS) is a severe progressive neurodegenerative disease. The
cause is unknown, but genetic abnormalities have been identified in subjects with familial …

Mouse models of ALS: Past, present and future

C Lutz - Brain Research, 2018 - Elsevier
Genome sequencing of both sporadic and familial patients of Amyotrophic Lateral Sclerosis
(ALS) has led to the identification of new genes that are both contributing and causative in …

[HTML][HTML] The genetic architecture of ALS

A Shatunov, A Al-Chalabi - Neurobiology of Disease, 2021 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a heterogeneous group of neurological conditions
which have in common the progressive degeneration of upper and lower motor neurons …

Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges

G Marangi, BJ Traynor - Brain research, 2015 - Elsevier
The genetic architecture of amyotrophic lateral sclerosis (ALS) is being increasingly
understood. In this far-reaching review, we examine what is currently known about ALS …

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 …

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

A Al Khleifat, A Iacoangeli, JJFA Van Vugt… - NPJ genomic …, 2022 - nature.com
There is a strong genetic contribution to Amyotrophic lateral sclerosis (ALS) risk, with
heritability estimates of up to 60%. Both Mendelian and small effect variants have been …

From multi-omics approaches to precision medicine in amyotrophic lateral sclerosis

G Morello, S Salomone, V D'Agata… - Frontiers in …, 2020 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a devastating and fatal neurodegenerative disorder,
caused by the degeneration of upper and lower motor neurons for which there is no truly …