Results 181 to 190 of about 20,711,708 (259)

Associations of Monocyte Glucocerebrosidase with Cognition and Cholinergic Innervation in GBA1 Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase). Parkinson's disease (PD) patients carrying a GBA1 variant (GBA‐PD) exhibit faster cognitive decline, linked to cholinergic degeneration. Objectives The aim was to investigate whether GCase activity, measured in monocytes, correlates with cognitive dysfunction or ...
Sofie Slingerland, Sygrid van der Zee, Sven C.D. van Ijzendoorn, Anne C. Slomp, Jeffrey M. Boertien, Sanne K. Meles, Arjan Kol, Marie Geerlings, Teus van Laar   +8 more
wiley   +1 more source

Amphiphilic Aminated [60] Fullerene Potentiates Radiofrequency Ablation for Synergistic Cancer Treatment. [PDF]

Int J Nanomedicine
Liu Y, Jiang Y, Li J, Chen S, Liu M, Pan Y, Liu J, Li L, Wang C, Li W.   +9 more
europepmc   +1 more source

Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature

Movement Disorders, EarlyView.
Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive DNA‐repair disorder characterized by extreme ultraviolet radiation (UVR) sensitivity, markedly increased cutaneous malignancy risk, and progressive neurological disease in approximately one‐third of patients.
Farrah S. Bakr, Huseyin Arisoy, Alan R. Lehmann, Paola Giunti, Hiva Fassihi   +4 more
wiley   +1 more source

Gray Matter Microstructure Measured Using Diffusion Imaging as a Biomarker of Severity in Lewy Body Diseases

Movement Disorders, EarlyView.
Abstract Background Despite widespread cortical involvement in Lewy body diseases, conventional gray matter magnetic resonance imaging (MRI) shows limited sensitivity. Diffusion‐weighted MRI‐derived microstructural measures have shown utility in Alzheimer's disease, but their application across the Lewy body disease spectrum remains limited ...
Angeliki Zarkali, Ivelina Dobreva, Naomi Hannaway, Rohan Bhome, George E.C. Thomas, Steffani Carrera, Amanda J. Heslegrave, Elena Veleva, Henrik Zetterberg, Rimona S. Weil   +9 more
wiley   +1 more source

Extrapolation of Time-to-Event Survival Outcomes of Histology-Independent Therapies Using a Bayesian Hierarchical Model. [PDF]

Med Decis Making
Mikelson J, Birnie R, McCarthy G, Madin-Warburton M, Xu R, Chumbley J, Aguiar-Ibáñez R, Amonkar M, Baio G, Young K.   +9 more
europepmc   +1 more source

Systematic Review of the Huntington's Disease Drug Development Pipeline, 2014 to 2025

Movement Disorders, EarlyView.
Abstract Background In the past decade, significant advances have improved our understanding of the mechanisms underlying HD pathobiology leading to several putative therapeutic targets for HD. Objective The aim was to describe the Huntington's disease (HD) drug development clinical pipeline.
Pavlina Konstantinova, Jenny Townhill, Juliana Bronzova, Viktoria Andreeva, Swati Sathe, Cristina Sampaio   +5 more
wiley   +1 more source

Comparison of Large Language Model Performance on the United Kingdom Neurology Specialty Certificate Examination. [PDF]

Cureus
Cho J, Sekaran A.
europepmc   +1 more source

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics

Movement Disorders, EarlyView.
Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade, Kylie Montgomery, Gabriela E. Jones, Peter Sellars, Akram A. Hosseini, Simon Paine, Henry Houlden, Mina Ryten, David S. Lynch   +8 more
wiley   +1 more source

The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta‐Analysis

Movement Disorders, EarlyView.
Abstract Background Variants in GBA1 are important genetic risk factors for synucleinopathies, including Parkinson's disease (PD). Although several GBA1 variants are established risk or severity modifiers, the role of the p.E427K variant remains unclear.
Leah V. Chifamba, Sitki Cem Parlar, Emma N. Somerville, Lang Liu, Eric Yu, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Jennifer A. Ruskey, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Irina Miliukhina, Lior Greenbaum, Sharon Hassin‐Baer, Orly Goldstein, Mandy Radefeldt, Peter Bauer, Christian Beetz, Allison A. Dilliott, James C. Beck, Konstantin Senkevich, ROPAD Study Group, The Parkinson's Foundation PD GENEration Study, Christine Klein, Roy N. Alcalay, Ziv Gan‐Or   +30 more
wiley   +1 more source

Sex-dependent dopaminergic vulnerability may contribute to sex differences in Parkinson's disease risk. [PDF]

Brain Commun
Eisenstein T, Lange FJ, Hu MTM, Klein JC.   +3 more
europepmc   +1 more source