[HTML][HTML] Neuroleptics as therapeutic compounds stabilizing neuromuscular transmission in amyotrophic lateral sclerosis

SA Patten, D Aggad, J Martinez, E Tremblay, J Petrillo… - JCI insight, 2017 - ncbi.nlm.nih.gov
Amyotrophic lateral sclerosis (ALS) is a rapidly progressing, fatal disorder with no effective
treatment. We used simple genetic models of ALS to screen phenotypically for potential …

Psychiatric symptoms in amyotrophic lateral sclerosis: beyond a motor neuron disorder

E Zucchi, N Ticozzi, J Mandrioli - Frontiers in neuroscience, 2019 - frontiersin.org
The historical view that Amyotrophic Lateral Sclerosis (ALS) as a pure motor disorder has
been increasingly challenged by the discovery of cognitive and behavioral changes in the …

The project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

RAA van der Spek, W van Rheenen… - … Lateral Sclerosis and …, 2019 - Taylor & Francis
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive fatal neurodegenerative disease
affecting one in 350 people. The aim of Project MinE is to elucidate the pathophysiology of …

Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism

EG Conlon, D Fagegaltier, P Agius, J Davis-Porada… - Elife, 2018 - elifesciences.org
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) represent two ends
of a disease spectrum with shared clinical, genetic and pathological features. These include …

Pathomechanisms of blood‐brain barrier disruption in ALS

N Kakaroubas, S Brennan, M Keon… - Neuroscience …, 2019 - Wiley Online Library
The blood‐brain barrier (BBB) and the blood‐spinal cord barrier (BSCB) are responsible for
controlling the microenvironment within neural tissues in humans. These barriers are …

The emerging immunogenetic architecture of schizophrenia

JG Pouget - Schizophrenia bulletin, 2018 - academic.oup.com
Schizophrenia is a severe psychiatric disorder of complex etiology. Immune processes have
long been proposed to contribute to the development of schizophrenia, and accumulating …

Mutations in the glycosyltransferase domain of GLT8D1 are associated with familial amyotrophic lateral sclerosis

J Cooper-Knock, T Moll, T Ramesh, L Castelli, A Beer… - Cell reports, 2019 - cell.com
Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disorder without effective
neuroprotective therapy. Known genetic variants impair pathways, including RNA …

[HTML][HTML] Protein glycosylation and glycoinformatics for novel biomarker discovery in neurodegenerative diseases

J Costa, C Hayes, F Lisacek - Ageing research reviews, 2023 - Elsevier
Glycosylation is a common post-translational modification of brain proteins including cell
surface adhesion molecules, synaptic proteins, receptors and channels, as well as …

Measuring network disruption in neurodegenerative diseases: new approaches using signal analysis

R McMackin, M Muthuraman, S Groppa… - Journal of Neurology …, 2019 - jnnp.bmj.com
Advanced neuroimaging has increased understanding of the pathogenesis and spread of
disease, and offered new therapeutic targets. MRI and positron emission tomography have …

[HTML][HTML] Polygenic risk and pleiotropy in neurodegenerative diseases

E Bellou, J Stevenson-Hoare, V Escott-Price - Neurobiology of Disease, 2020 - Elsevier
In this paper we explore the phenomenon of pleiotropy in neurodegenerative diseases,
focusing on Alzheimer's disease (AD). We summarize the various techniques developed to …