Results 221 to 230 of about 364,075 (332)

Relationship of cognitive decline with glucocerebrosidase activity and amyloid‐beta 42 in DLB and PD

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Dementia with Lewy bodies (DLB) and Parkinson's disease (PD) share clinical, pathological, and genetic risk factors, including GBA1 and APOEε4 mutations. Biomarkers associated with the pathways of these mutations, such as glucocerebrosidase enzyme (GCase) activity and amyloid‐beta 42 (Aβ42) levels, may hold potential as predictive ...
Maria Camila Gonzalez   +15 more
wiley   +1 more source

The recombination landscape of introgression in yeast. [PDF]

open access: yesPLoS Genet
Schwarzkopf EJ   +2 more
europepmc   +1 more source

Skin calcium deposits in primary familial brain calcification: A novel potential biomarker

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting
Aron Emmi   +8 more
wiley   +1 more source

MalKinID: A classification model for identifying malaria parasite genealogical relationships using identity-by-descent. [PDF]

open access: yesGenetics
Wong W   +10 more
europepmc   +1 more source

An MRI assessment of mechanisms underlying lesion growth and shrinkage in multiple sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
By applying the tensor model, we analysed lesion orientation and the directionality of lesion expansion/contraction in multiple sclerosis. Each lesion is summarized as an ellipsoid, and the tensor model is applied to calculate lesion anisotropy. From the top to the bottom white matter atlas, surface‐in gradient segmentation and venous atlas used in the
Ermelinda De Meo   +9 more
wiley   +1 more source

A new Drosophila melanogaster research resource: CRISPR-induced mutations for clonal analysis of fourth chromosome genes. [PDF]

open access: yesG3 (Bethesda)
Weasner BM   +7 more
europepmc   +1 more source

Twelve‐month change in quantitative MRI calf muscle fat fraction in CMT1A predicts clinical change over 4 years

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective We measured clinical and quantitative MRI outcome measures in CMT1A to assess long‐term responsiveness, establish longitudinal validity and assess MRI as a bridging biomarker. Methods Twenty patients with CMT1A and 20 matched controls underwent MRI, myometry and clinical assessments up to four times over mean 4‐year follow‐up ...
Matthew R. B. Evans   +8 more
wiley   +1 more source

Capturing what matters: Patient‐reported LGI1‐ANTibody encephalitis outcome RatiNg scale (LANTERN)

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Background LGI1‐antibody encephalitis (LGI1‐Ab‐E) is a common form of autoimmune encephalitis where most patients demonstrate ‘good’ clinician‐rated outcomes. However, more targeted questionnaires reveal numerous debilitating symptoms for many years.
Mark J Kelly   +9 more
wiley   +1 more source

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