Results 261 to 270 of about 803,882 (321)

Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron, Remika Mito, Samuel F. Berkovic, Graeme D. Jackson   +3 more
wiley   +1 more source

CAMUR: Knowledge extraction from RNA-seq cancer data through equivalent classification rules. [PDF]

Bioinformatics, 2016
Cestarelli V, Fiscon G, Felici G, Bertolazzi P, Weitschek E.   +4 more
europepmc   +1 more source

Knowledge Extraction from Professional E-mails

, 2015
Nada Matta, Hassan Atifi, François Rauscher   +2 more
openalex   +1 more source

Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng, Chenxin Ying, Nan Jin, Jinghong Ma, Xinhua Wan, Xunhua Li, Wei Luo   +6 more
wiley   +1 more source

Exploiters-Based Knowledge Extraction in Object-Oriented Knowledge Representation

, 2015
Dmytro Terletskyi
openalex   +2 more sources

Longitudinal Trajectories of Digital Cognitive Biomarkers for Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Cognitive impairment is one of the most common and debilitating symptoms of relapsing–remitting multiple sclerosis (RRMS). Digital cognitive biomarkers require less time and resources and are rapidly gaining popularity in clinical settings.
Yi Chao Foong, Daniel Merlo, Melissa Gresle, Chao Zhu, Katherine Buzzard, Jeannette Lechner‐Scott, Michael Barnett, Chenyu Wang, Bruce V. Taylor, Tomas Kalincik, Trevor Kilpatrick, David Darby, Pamela Dobay, Johan van Beek, Robert Hyde, Steve Simpson‐Yap, Helmut Butzkueven, Anneke van der Walt   +17 more
wiley   +1 more source

High‐Fat and Low‐Carbohydrate Dietary Environments Are Linked to Reduced Idiopathic Epilepsy Incidence and Prevalence

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dietary manipulations like ketogenic diets are established interventions for recalcitrant epilepsy. However, it remains unknown whether specific macronutrient exposure through dietary environments could possibly extend to primary preventive qualities, associated with changes in epilepsy disease burden (prevalence and incidence).
Duan Ni, Alistair Senior, David Raubenheimer, Stephen J. Simpson, Ralph Nanan   +4 more
wiley   +1 more source

Claustrum Volume Is Reduced in Multiple Sclerosis and Predicts Disability

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The claustrum is a small, thin structure of predominantly gray matter with broad connectivity and enigmatic function. Little is known regarding the impact of claustrum pathology in multiple sclerosis (MS). Methods This study assessed whether claustrum volume was reduced in MS and whether reductions were associated with specific ...
Nicole Shelley, Bradley Judge, Dmitriy A. Yablonskiy, Robert T. Naismith, Matthew R. Brier, Anne H. Cross   +5 more
wiley   +1 more source