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 …

The role of TDP-43 mislocalization in amyotrophic lateral sclerosis

TR Suk, MWC Rousseaux - Molecular neurodegeneration, 2020 - Springer
Since its discovery as a primary component in cytoplasmic aggregates in post-mortem tissue
of patients with Amyotrophic Lateral Sclerosis (ALS), TAR DNA Binding Protein 43 kDa (TDP …

The genetics of epilepsy

P Perucca, M Bahlo, SF Berkovic - Annual review of genomics …, 2020 - annualreviews.org
Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …

Molecular and cellular mechanisms affected in ALS

L Le Gall, E Anakor, O Connolly… - Journal of personalized …, 2020 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a terminal late-onset condition characterized by the
loss of upper and lower motor neurons. Mutations in more than 30 genes are associated to …

[HTML][HTML] Axonal transport defects and neurodegeneration: molecular mechanisms and therapeutic implications

W Guo, KS Dittlau, L Van Den Bosch - Seminars in cell & developmental …, 2020 - Elsevier
Because of the extremely polarized morphology, the proper functioning of neurons largely
relies on the efficient cargo transport along the axon. Axonal transport defects have been …

Disease-modifying therapies in amyotrophic lateral sclerosis

A Chiò, L Mazzini, G Mora - Neuropharmacology, 2020 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of adult life, causing
weakness and wasting of voluntary muscles, associated in about 50% of cases with a …

Precision and personalized medicine: how genomic approach improves the management of cardiovascular and neurodegenerative disease

O Strianese, F Rizzo, M Ciccarelli, G Galasso… - Genes, 2020 - mdpi.com
Life expectancy has gradually grown over the last century. This has deeply affected
healthcare costs, since the growth of an aging population is correlated to the increasing …

Genetics of amyotrophic lateral sclerosis

JM Gregory, D Fagegaltier, H Phatnani… - Current Genetic Medicine …, 2020 - Springer
Abstract Purpose of Review Amyotrophic lateral sclerosis and frontotemporal dementia (ALS-
FTD) spectrum disorder is a rare fatal disease with strong genetic influences. The …

The neglected genes of ALS: cytoskeletal dynamics impact synaptic degeneration in ALS

MJ Castellanos-Montiel, M Chaineau… - Frontiers in Cellular …, 2020 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that selectively affects
motor neurons (MNs) of the cortex, brainstem, and spinal cord. Several genes have been …

Common schizophrenia risk variants are enriched in open chromatin regions of human glutamatergic neurons

ME Hauberg, J Creus-Muncunill, J Bendl… - Nature …, 2020 - nature.com
The chromatin landscape of human brain cells encompasses key information to
understanding brain function. Here we use ATAC-seq to profile the chromatin structure in …