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ALS: Genetics

ALS: Genetics diagram by BlueRingMedia, Shutterstock
BlueRingMedia, Shutterstock

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

Top 20 most recent papers
bioRxiv

A conserved role for SFPQ in repression of pathogenic cryptic last exons

bioRxivMarch 18, 2020
Patricia GordonCorinne Houart
8
International Journal of Molecular Sciences

Insights into the Therapeutic Potential of Glucocorticoid Receptor Modulators for Neurodegenerative Diseases

International Journal of Molecular SciencesApril 5, 2020
Alejandro F De NicolaMaria Claudia Gonzalez Deniselle
Brain : a Journal of Neurology

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis

Brain : a Journal of NeurologyMarch 19, 2020
Carol Dobson-StoneJohn B Kwok
62
1
Micron : the International Research and Review Journal for Microscopy

Investigating microglia during motor neuron degeneration using a zebrafish model

Micron : the International Research and Review Journal for MicroscopyMarch 24, 2020
Jessica R MorriceChristopher A Shaw
1
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration

VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease

Amyotrophic Lateral Sclerosis & Frontotemporal DegenerationApril 4, 2020
Daniela Pimenta SilvaMamede De Carvalho
4
1
Angewandte Chemie

Superoxide dismutase 1 in health and disease: How a front-line antioxidant becomes neurotoxic

Angewandte ChemieMarch 8, 2020
Benjamin TristKay Lorraine Double
5
1
Acta Neuropathologica Communications

Histological correlates of postmortem ultra-high-resolution single-section MRI in cortical cerebral microinfarcts

Acta Neuropathologica CommunicationsMarch 15, 2020
Deniz Yilmazer-HankeVolker Rasche
15
1
1
Expert Opinion on Therapeutic Targets

Silence superoxide dismutase 1 (SOD1): a promising therapeutic target for amyotrophic lateral sclerosis (ALS)

Expert Opinion on Therapeutic TargetsMarch 4, 2020
Elena AbatiStefania Corti
1
Journal of Neurology, Neurosurgery, and Psychiatry

Different CSF protein profiles in amyotrophic lateral sclerosis and frontotemporal dementia with C9orf72 hexanucleotide repeat expansion

Journal of Neurology, Neurosurgery, and PsychiatryMarch 6, 2020
Peggy BarschkeGerman FTLD consortium
11
1
Annals of Neurology

Alcohol drinking and ALS: an instrumental variable causal inference

Annals of NeurologyMarch 21, 2020
Xinghao YuPing Zeng
1
European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies

Clinical and genetic features of amyotrophic lateral sclerosis patients in southern China

European Journal of Neurology : the Official Journal of the European Federation of Neurological SocietiesMarch 14, 2020
Weineng ChenXiaoli Yao
1
1
Communications Biology

Ebselen as template for stabilization of A4V mutant dimer for motor neuron disease therapy

Communications BiologyMarch 7, 2020
Varunya ChantadulS Samar Hasnain
3

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