The Chongqing Adolescent Twin Study: An Integrative Multimodal Brain Imaging and Non-imaging Dataset. [PDF]
Zhu Y+7 more
europepmc +1 more source
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing
ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen+47 more
wiley +1 more source
A case of aortic root replacement for acute type A dissection in Marfan syndrome with twin pregnancy. [PDF]
Yang Y, Jia B, Li C, Zhu J.
europepmc +1 more source
ABSTRACT Introduction The kappa‐free light chain (κ‐FLC) index is known to be highly sensitive and specific for diagnosing multiple sclerosis (MS), while little is understood about lambda (λ)‐FLC. This study assessed the κ‐FLC and λ‐FLC indices in autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy.
Michael Levraut+11 more
wiley +1 more source
Correction to "Cardiovascular disease and all-cause mortality in male twins with discordant cardiorespiratory fitness: a nationwide cohort study". [PDF]
Ballin M, Nordström A, Nordström P.
europepmc +1 more source
Cognitive and Patient‐Reported Outcome Measures in LGI‐1‐IgG Autoimmune Encephalitis
ABSTRACT Objective Clinical outcome measures for autoimmune encephalitis (AE) are not yet well defined. Cognitive outcome measures (CogOs) and patient‐reported outcomes (PROs) may capture the symptoms of AE, beyond clinician‐reported outcomes (ClinROs) (the Modified Rankin Scale [mRS] and Clinical Assessment Scale in Autoimmune Encephalitis [CASE ...
Tatchaporn Ongphichetmetha+8 more
wiley +1 more source
Prenatal diagnosis and molecular cytogenetic analyses of a rare 15q21.3 and 16p11.2 microduplication family. [PDF]
Zhang F, Liao G, Wen X, Zhang C.
europepmc +1 more source
ABSTRACT Objective Reliable biomarkers are essential for tracking disease progression and advancing treatments for multiple system atrophy (MSA). In this study, we propose the MSA Atrophy Index (MSA‐AI), a novel composite volumetric measure to distinguish MSA from related disorders and monitor disease progression. Methods Seventeen participants with an
Paula Trujillo+11 more
wiley +1 more source
Microgravity Therapy as Treatment for Decelerated Aging and Successful Longevity. [PDF]
Mozalbat N, Sharvit L, Atzmon G.
europepmc +1 more source
Current applications and future perspectives of artificial intelligence in valvular heart disease. [PDF]
Jiang L, Zuo H, Wang XJ, Chen C.
europepmc +1 more source