Advances in sequencing technologies for amyotrophic lateral sclerosis research

E Udine, A Jain, M van Blitterswijk - Molecular neurodegeneration, 2023 - Springer
Amyotrophic lateral sclerosis (ALS) is caused by upper and lower motor neuron loss and
has a fairly rapid disease progression, leading to fatality in an average of 2-5 years after …

Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis

J Couthouis, AR Raphael, R Daneshjou… - PLoS genetics, 2014 - journals.plos.org
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease that results
in progressive degeneration of motor neurons, ultimately leading to paralysis and death …

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis

S Morgan, M Shoai, P Fratta, K Sidle, R Orrell… - Neurobiology of …, 2015 - Elsevier
The future of genetic diagnostics will see a move toward massively parallel next-generation
sequencing of a patient's DNA. Amyotrophic lateral sclerosis (ALS) is one of the diseases …

Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery

K Gwinn, RA Corriveau, H Mitsumoto, K Bednarz… - PloS one, 2007 - journals.plos.org
Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease
(MND). It is currently incurable and treatment is largely limited to supportive care. Family …

Progress in amyotrophic lateral sclerosis gene discovery: reflecting on classic approaches and leveraging emerging technologies

SN Smukowski, H Maioli, CS Latimer, TD Bird… - Neurology …, 2022 - AAN Enterprises
Amyotrophic lateral sclerosis (ALS) is the most prominent motor neuron disease in humans.
Its etiology consists of progressive motor neuron degeneration resulting in a rapid decline in …

Amyotrophic lateral sclerosis genetic studies: from genome-wide association mapping to genome sequencing

J He, M Mangelsdorf, D Fan, P Bartlett… - The …, 2015 - journals.sagepub.com
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of obscure etiology.
Multiple genetic studies have been conducted to advance our understanding of the disease …

ALS: recent developments from genetics studies

M Therrien, PA Dion, GA Rouleau - Current neurology and neuroscience …, 2016 - Springer
Amyotrophic lateral sclerosis (ALS) is a fatal disorder that is characterized by a progressive
degeneration of the upper and lower motor neurons. Most cases appear to be sporadic, but …

ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients

A Iacoangeli, A Al Khleifat, W Sproviero… - … Lateral Sclerosis and …, 2019 - Taylor & Francis
Amyotrophic lateral sclerosis (ALS, MND) is a neurodegenerative disease of upper and
lower motor neurons resulting in death from neuromuscular respiratory failure, typically …

The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

RAA van der Spek, W van Rheenen… - … Lateral Sclerosis and …, 2019 - Taylor & Francis
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive fatal neurodegenerative disease
affecting one in 350 people. The aim of Project MinE is to elucidate the pathophysiology of …

Molecular taxonomy of sporadic amyotrophic lateral sclerosis using disease-associated genes

G Morello, AG Spampinato, S Cavallaro - Frontiers in neurology, 2017 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by
selective loss of upper and lower motor neurons. Despite intensive research, the origin and …