Results 91 to 100 of about 22,140 (207)

Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...
Caitlin Latimer, Oswaldo Lorenzo‐Betancor, Dong‐Hui Chen, Kimmy Su, Marika Bogdani, Anna J. Park, Minsuh Kim, Joshua Weiss, Malia Callier, Ella H. Chiu, Sarah Fish, Jennifer L. Witt, Wendy H. Raskind, Marie Y. Davis, C. Dirk Keene, Cyrus P. Zabetian   +15 more
wiley   +1 more source

Trajectory of lobar atrophy in asymptomatic and symptomatic GRN mutation carriers: a longitudinal MRI study [PDF]

, 2020
Loss-of-function mutations in the progranulin gene (GRN) are one of the major causes of familial frontotemporal lobar degeneration. Our objective was to determine the rates and trajectories of lobar cortical atrophy from longitudinal structural magnetic ...
Rademakers, Rosa, Gavrilova, Ralitza, Syrjanen, Jeremy, Knopman, David, Jack, Clifford R, Gearhart, Debra, Ramos, Eliana Marisa, Tosakulwong, Nirubol, Graff-Radford, Neill, Fields, Julie, Forsberg, Leah, Senjem, Matthew, Kremers, Walter K, Boeve, Bradley F, Lesnick, Timothy, Brushaber, Danielle, Graff-Radford, Jonathan, Dheel, Christina, Lapid, Maria, Boxer, Adam L, Wszolek, Zbigniew K, Jones, David, Chen, Qin, Kantarci, Kejal, Rosen, Howie   +24 more
core   +1 more source

When Blood Proteins Reveal What Transcripts Miss: Immune Cell Priming and the Road to Prognostic Biomarkers in Lupus

Arthritis &Rheumatology, EarlyView.
Ioannis Parodis
wiley   +1 more source

Rare‐Variant Burden across Lysosomal Genes Implicates Sialylation and Ganglioside Metabolism in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Lysosomal dysfunction is central to Parkinson's disease (PD) pathogenesis, with GBA1 representing the strongest established genetic risk factor. Numerous other genes involved in lysosomal sphingolipid, glycosphingolipid, and ceramide metabolism have been proposed as contributors to PD, highlighting the need for genetic analyses ...
Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Lang Liu, Eric Yu, Uladzislau Rudakou, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin‐Baer, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Roy N. Alcalay, Ziv Gan‐Or   +21 more
wiley   +1 more source

Addressing the Plight of Poor Households by Zero-Rating Value Added Tax on Basic Commodities In Namibia [PDF]

Difficult economic times began for Namibia in 2008 as real economic growth suddenly dropped to 4.3 per cent from the 5.5 per cent recorded in 2007. There were also wide fluctuations in the general level of prices of goods and services, including food ...
John E. Odada, Ojijo Odhiambo
core  

The role of the synoptic‐scale conditions in driving fog and mist during the FATIMA July 2022 Sable Island Field program

Quarterly Journal of the Royal Meteorological Society, EarlyView.
ERA5 hourly 325‐m and 1512‐m (a) convergence and (b) vertical motion (actually pressure change with sign reversed to compare with convergence) over Sable Island around the time of an event. The mist (green) and fog (red) occurrences at the surface station are shown at the bottom of the figures. A 325‐m fitted line convergence was positive for the first
Clive E. Dorman, Darko Koračin, Reneta Dimitrova, Ismail Gultepe, Sebastian W. Hoch, Jesus Ruiz‐Plancarte, Qing Wang, Alexei Perelet, H. J. S. Fernando   +8 more
wiley   +1 more source

From prediction to intervention: Paradigm shifts in causal AI for precision medicine and large‐scale cohorts

VIEW, EarlyView.
Large‐scale cohorts and multimodal biomedical data have enabled powerful predictive models for clinical risk stratification, but prediction alone cannot guide effective interventions. This review introduces causal artificial intelligence as a design‐first framework that integrates target trial emulation, causal discovery, and robust effect estimation ...
Linlin Cao, Yudian Xu, Yifan Chen, Honghao Huang, Wei Xu, Jun Pu   +5 more
wiley   +1 more source

Glutamatergic neurons of the gigantocellular reticular nucleus shape locomotor pattern and rhythm in the freely behaving mouse.

PLoS Biology, 2019
Because of their intermediate position between supraspinal locomotor centers and spinal circuits, gigantocellular reticular nucleus (GRN) neurons play a key role in motor command.
Maxime Lemieux, Frederic Bretzner
doaj   +1 more source

Image and video analysis using graph neural network for Internet of Medical Things and computer vision applications

CAAI Transactions on Intelligence Technology, EarlyView.
Abstract Graph neural networks (GNNs) have revolutionised the processing of information by facilitating the transmission of messages between graph nodes. Graph neural networks operate on graph‐structured data, which makes them suitable for a wide variety of computer vision problems, such as link prediction, node classification, and graph classification.
Amit Sharma, Ashutosh Sharma, Alexey Tselykh, Alexander Bozhenyuk, Byung‐Gyu Kim   +4 more
wiley   +1 more source

Cerebrospinal Fluid Progranulin, but Not Serum Progranulin, Is Reduced in GRN-Negative Frontotemporal Dementia [PDF]

, 2017
Background and Objective: Reduced progranulin levels are a hallmark of frontotemporal dementia (FTD) caused by loss-of-function (LoF) mutations in the progranulin gene (GRN).
Deuschle, Christian, Jansen, Iris E., Hobert, Markus A., Maetzler, Walter, Gillardon, Frank, Heutink, Peter, Synofzik, Matthis, Metzger, Florian G., Blauwendraat, Cornelis, Wilke, Carlo, Gasser, Thomas   +10 more
core   +1 more source