Nutritional and metabolic factors in amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease that is
classically thought to impact the motor system. Over the past 20 years, research has started …
classically thought to impact the motor system. Over the past 20 years, research has started …
Recent updates on the genetics of amyotrophic lateral sclerosis and frontotemporal dementia
L Kirola, A Mukherjee, M Mutsuddi - Molecular Neurobiology, 2022 - Springer
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) primarily affect the
motor and frontotemporal areas of the brain, respectively. These disorders share clinical …
motor and frontotemporal areas of the brain, respectively. These disorders share clinical …
[HTML][HTML] Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS
TM Miller, ME Cudkowicz, A Genge… - … England Journal of …, 2022 - Mass Medical Soc
Background The intrathecally administered antisense oligonucleotide tofersen reduces
synthesis of the superoxide dismutase 1 (SOD1) protein and is being studied in patients with …
synthesis of the superoxide dismutase 1 (SOD1) protein and is being studied in patients with …
Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS
Background Tofersen is an antisense oligonucleotide that mediates the degradation of
superoxide dismutase 1 (SOD1) messenger RNA to reduce SOD1 protein synthesis …
superoxide dismutase 1 (SOD1) messenger RNA to reduce SOD1 protein synthesis …
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 …
[HTML][HTML] Effects of tofersen treatment in patients with SOD1-ALS in a “real-world” setting–a 12-month multicenter cohort study from the German early access program
M Wiesenfarth, J Dorst, D Brenner, Z Elmas… - …, 2024 - thelancet.com
Summary Background In April 2023, the antisense oligonucleotide tofersen was approved
by the US Food and Drug Administration (FDA) for treatment of SOD1-amyotrophic lateral …
by the US Food and Drug Administration (FDA) for treatment of SOD1-amyotrophic lateral …
Neurofilament light‐chain response during therapy with antisense oligonucleotide tofersen in SOD1‐related ALS: treatment experience in clinical practice
Abstract Introduction/Aims In amyotrophic lateral sclerosis (ALS) caused by superoxide
dismutase 1 (SOD1) gene mutations (SOD1‐ALS), the antisense oligonucleotide tofersen …
dismutase 1 (SOD1) gene mutations (SOD1‐ALS), the antisense oligonucleotide tofersen …
Genetics of amyotrophic lateral sclerosis
Abstract Purpose of Review Amyotrophic lateral sclerosis and frontotemporal dementia (ALS-
FTD) spectrum disorder is a rare fatal disease with strong genetic influences. The …
FTD) spectrum disorder is a rare fatal disease with strong genetic influences. The …
Expanding the stdpopsim species catalog, and lessons learned for realistic genome simulations
Simulation is a key tool in population genetics for both methods development and empirical
research, but producing simulations that recapitulate the main features of genomic datasets …
research, but producing simulations that recapitulate the main features of genomic datasets …