Genetics and functional genomics of multiple sclerosis
W Kim, NA Patsopoulos - Seminars in immunopathology, 2022 - Springer
Multiple sclerosis (MS) is an inflammatory neurodegenerative disease with genetic
predisposition. Over the last decade, genome-wide association studies with increasing …
predisposition. Over the last decade, genome-wide association studies with increasing …
Predicting multiple sclerosis: challenges and opportunities
L Hone, G Giovannoni, R Dobson… - Frontiers in Neurology, 2022 - frontiersin.org
Determining effective means of preventing Multiple Sclerosis (MS) relies on testing
preventive strategies in trial populations. However, because of the low incidence of MS …
preventive strategies in trial populations. However, because of the low incidence of MS …
Integration of epigenetic and genetic profiles identifies multiple sclerosis disease-critical cell types and genes
Genome-wide association studies (GWAS) successfully identified multiple sclerosis (MS)
susceptibility variants. Despite this notable progress, understanding the biological context of …
susceptibility variants. Despite this notable progress, understanding the biological context of …
Pre‐ataxic Changes of Clinical Scales and Eye Movement in Machado–Joseph Disease: BIGPRO Study
Background The pathological burden of spinocerebellar ataxia type 3, also known as
Machado–Joseph disease (SCA3/MJD), accumulates before the beginning of symptoms …
Machado–Joseph disease (SCA3/MJD), accumulates before the beginning of symptoms …
Quality of Life since Pre-Ataxic Phases of Spinocerebellar Ataxia Type 3/Machado–Joseph Disease
Although health-related quality of life (HRQoL) has been increasingly valued in healthcare
and in clinical trials, there is scarce information about it in spinocerebellar ataxia type …
and in clinical trials, there is scarce information about it in spinocerebellar ataxia type …
Evaluating 17 methods incorporating biological function with GWAS summary statistics to accelerate discovery demonstrates a tradeoff between high sensitivity and …
Where sufficiently large genome-wide association study (GWAS) samples are not currently
available or feasible, methods that leverage increasing knowledge of the biological function …
available or feasible, methods that leverage increasing knowledge of the biological function …
White matter microstructural differences in children and genetic risk for multiple sclerosis: A population-based study
CL de Mol, RF Neuteboom… - Multiple Sclerosis …, 2022 - journals.sagepub.com
Background: MS patients show abnormalities in white matter (WM) on brain imaging, with
heterogeneity in the location of WM lesions. The “pothole” method can be applied to …
heterogeneity in the location of WM lesions. The “pothole” method can be applied to …
Shifting our attention earlier in the multiple sclerosis disease course
SE Epstein, EE Longbrake - Current Opinion in Neurology, 2024 - journals.lww.com
Despite progress in our understanding of the earliest stages of the MS disease course,
additional research is needed to systematically identify patients with preclinical MS as well …
additional research is needed to systematically identify patients with preclinical MS as well …
Cognitive-affective manifestations since premanifest phases of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease
Background Cognitive deficits were related to Spinocerebellar Ataxia type 3/Machado-
Joseph Disease (SCA3/MJD), but the Cerebellar Cognitive Affective Syndrome (CCAS) …
Joseph Disease (SCA3/MJD), but the Cerebellar Cognitive Affective Syndrome (CCAS) …
Multiple sclerosis risk variants influence the peripheral B‐cell compartment early in life in the general population
CL de Mol, MM van Luijn, KL Kreft… - European journal of …, 2023 - Wiley Online Library
Background and purpose Multiple sclerosis (MS) is associated with abnormal B‐cell
function, and MS genetic risk alleles affect multiple genes that are expressed in B cells …
function, and MS genetic risk alleles affect multiple genes that are expressed in B cells …