Amyotrophic lateral sclerosis: a neurodegenerative disorder poised for successful therapeutic translation

RJ Mead, N Shan, HJ Reiser, F Marshall… - Nature Reviews Drug …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is a devastating disease caused by degeneration of
motor neurons. As with all major neurodegenerative disorders, development of disease …

Amyotrophic lateral sclerosis: a clinical review

P Masrori, P Van Damme - European journal of neurology, 2020 - Wiley Online Library
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting primarily the
motor system, but in which extra‐motor manifestations are increasingly recognized. The loss …

ALS genetics, mechanisms, and therapeutics: where are we now?

R Mejzini, LL Flynn, IL Pitout, S Fletcher… - Frontiers in …, 2019 - frontiersin.org
The scientific landscape surrounding amyotrophic lateral sclerosis (ALS) continues to shift
as the number of genes associated with the disease risk and pathogenesis, and the cellular …

Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities

SJ Tabrizi, MD Flower, CA Ross, EJ Wild - Nature Reviews Neurology, 2020 - nature.com
Huntington disease (HD) is a neurodegenerative disease caused by CAG repeat expansion
in the huntingtin gene (HTT) and involves a complex web of pathogenic mechanisms …

Molecular and cellular mechanisms of selective vulnerability in neurodegenerative diseases

M Kampmann - Nature Reviews Neuroscience, 2024 - nature.com
The selective vulnerability of specific neuronal subtypes is a hallmark of neurodegenerative
diseases. In this Review, I summarize our current understanding of the brain regions and …

Suppression of mutant C9orf72 expression by a potent mixed backbone antisense oligonucleotide

H Tran, MP Moazami, H Yang, D McKenna-Yasek… - Nature medicine, 2022 - nature.com
Expansions of a G4C2 repeat in the C9ORF72 gene are the most common genetic cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two devastating …

ALS genetics: gains, losses, and implications for future therapies

G Kim, O Gautier, E Tassoni-Tsuchida, XR Ma… - Neuron, 2020 - cell.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder caused by the loss
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …

C9orf72-mediated ALS and FTD: multiple pathways to disease

R Balendra, AM Isaacs - Nature Reviews Neurology, 2018 - nature.com
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …

An update on genetic frontotemporal dementia

CV Greaves, JD Rohrer - Journal of neurology, 2019 - Springer
Frontotemporal dementia (FTD) is a highly heritable group of neurodegenerative disorders,
with around 30% of patients having a strong family history. The majority of that heritability is …

Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy

N Suzuki, A Nishiyama, H Warita, M Aoki - Journal of human genetics, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is an intractable disease that causes respiratory failure
leading to mortality. The main locus of ALS is motor neurons. The success of antisense …