From multi-omics approaches to precision medicine in amyotrophic lateral sclerosis
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 …
caused by the degeneration of upper and lower motor neurons for which there is no truly …
Focus on the heterogeneity of amyotrophic lateral sclerosis
C Bendotti, V Bonetto, E Pupillo… - … Lateral Sclerosis and …, 2020 - Taylor & Francis
The clinical manifestations of amyotrophic lateral sclerosis (ALS) are variable in terms of age
at disease onset, site of onset, progression of symptoms, motor neuron involvement, and the …
at disease onset, site of onset, progression of symptoms, motor neuron involvement, and the …
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
W Van Rheenen, RAA Van Der Spek, MK Bakker… - Nature …, 2021 - nature.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk
of one in 350 people and an unmet need for disease-modifying therapies. We conducted a …
of one in 350 people and an unmet need for disease-modifying therapies. We conducted a …
Lifetime risk and heritability of amyotrophic lateral sclerosis
M Ryan, M Heverin, RL McLaughlin… - JAMA neurology, 2019 - jamanetwork.com
Importance Heritability describes the proportion of variance in the risk of developing a
condition that is explained by genetic factors. Although amyotrophic lateral sclerosis (ALS) is …
condition that is explained by genetic factors. Although amyotrophic lateral sclerosis (ALS) is …
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data
Repeat expansions are responsible for over 40 monogenic disorders, and undoubtedly
more pathogenic repeat expansions remain to be discovered. Existing methods for detecting …
more pathogenic repeat expansions remain to be discovered. Existing methods for detecting …
Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a complex disease that leads to motor neuron death.
Despite heritability estimates of 52%, genome-wide association studies (GWASs) have …
Despite heritability estimates of 52%, genome-wide association studies (GWASs) have …
Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis
Importance Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized
by age of symptom onset less than 25 years and a variable presentation. Objective To …
by age of symptom onset less than 25 years and a variable presentation. Objective To …
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
S Opie-Martin, A Iacoangeli, SD Topp, O Abel… - Nature …, 2022 - nature.com
Superoxide dismutase (SOD1) gene variants may cause amyotrophic lateral sclerosis, some
of which are associated with a distinct phenotype. Most studies assess limited variants or …
of which are associated with a distinct phenotype. Most studies assess limited variants or …
Genetic variability in sporadic amyotrophic lateral sclerosis
SH Van Daele, M Moisse, JJFA van Vugt… - Brain, 2023 - academic.oup.com
With the advent of gene therapies for amyotrophic lateral sclerosis (ALS), there is a surge in
gene testing for this disease. Although there is ample experience with gene testing for …
gene testing for this disease. Although there is ample experience with gene testing for …
Value of systematic genetic screening of patients with amyotrophic lateral sclerosis
Objective The clinical utility of routine genetic sequencing in amyotrophic lateral sclerosis
(ALS) is uncertain. Our aim was to determine whether routine targeted sequencing of 44 …
(ALS) is uncertain. Our aim was to determine whether routine targeted sequencing of 44 …