Emerging insights into the complex genetics and pathophysiology of amyotrophic lateral sclerosis

SA Goutman, O Hardiman, A Al-Chalabi… - The Lancet …, 2022 - thelancet.com
Amyotrophic lateral sclerosis is a fatal neurodegenerative disease. The discovery of genes
associated with amyotrophic lateral sclerosis, commencing with SOD1 in 1993, started fairly …

Recent advances in the diagnosis and prognosis of amyotrophic lateral sclerosis

SA Goutman, O Hardiman, A Al-Chalabi… - The Lancet …, 2022 - thelancet.com
The diagnosis of amyotrophic lateral sclerosis can be challenging due to its heterogeneity in
clinical presentation and overlap with other neurological disorders. Diagnosis early in the …

Genotype-associated cerebellar profiles in ALS: focal cerebellar pathology and cerebro-cerebellar connectivity alterations

P Bede, RH Chipika, F Christidi… - Journal of Neurology …, 2021 - jnnp.bmj.com
Objective Cerebellar disease burden and cerebro-cerebellar connectivity alterations are
poorly characterised in amyotrophic lateral sclerosis (ALS) despite the likely contribution of …

[HTML][HTML] Machine learning in amyotrophic lateral sclerosis: achievements, pitfalls, and future directions

V Grollemund, PF Pradat, G Querin, F Delbot… - Frontiers in …, 2019 - frontiersin.org
Background: Amyotrophic Lateral Sclerosis (ALS) is a relentlessly progressive
neurodegenerative condition with limited therapeutic options at present. Survival from …

Presymptomatic spinal cord pathology in c9orf72 mutation carriers: A longitudinal neuroimaging study

G Querin, P Bede, MM El Mendili, M Li… - Annals of …, 2019 - Wiley Online Library
Objective C9orf72 hexanucleotide repeats expansions account for almost half of familial
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) cases. Recent …

Pathological neural networks and artificial neural networks in ALS: diagnostic classification based on pathognomonic neuroimaging features

P Bede, A Murad, O Hardiman - Journal of neurology, 2021 - Springer
The description of group-level, genotype-and phenotype-associated imaging traits is
academically important, but the practical demands of clinical neurology centre on the …

Hippocampal pathology in amyotrophic lateral sclerosis: selective vulnerability of subfields and their associated projections

F Christidi, E Karavasilis, M Rentzos, G Velonakis… - Neurobiology of …, 2019 - Elsevier
Although hippocampal involvement in amyotrophic lateral sclerosis (ALS) has been
consistently highlighted by postmortem studies, memory impairment remains under …

Clinical and radiological markers of extra-motor deficits in amyotrophic lateral sclerosis

F Christidi, E Karavasilis, M Rentzos, N Kelekis… - Frontiers in …, 2018 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is now universally recognized as a complex multisystem
disorder with considerable extra-motor involvement. The neuropsychological manifestations …

Connectivity-based characterisation of subcortical grey matter pathology in frontotemporal dementia and ALS: a multimodal neuroimaging study

P Bede, T Omer, E Finegan, RH Chipika… - Brain imaging and …, 2018 - Springer
Frontotemporal dementia (FTD) phenotypes have distinctive and well-established cortical
signatures, but their subcortical grey matter profiles are poorly characterised. The …

Primary lateral sclerosis: a distinct entity or part of the ALS spectrum?

E Finegan, RH Chipika, SLH Shing… - … Lateral Sclerosis and …, 2019 - Taylor & Francis
Primary lateral sclerosis (PLS) has been traditionally viewed as a distinct upper motor
neuron condition (UMN) but is increasingly regarded as a sub-phenotype within the …