Results 141 to 150 of about 438,111 (313)
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Suzanne A Ligthart1, Eric P Moll van Charante1, Willem A Van Gool2, Edo Richard21Department of General Practice, 2Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The NetherlandsBackground: Over the last decade ...
Suzanne A Ligthart +7 more
core
A Decline in Cognitive Decline: The Brain's Modifiable Fate [PDF]
Reid, Hoshide, Rahul, Jandial
openaire +2 more sources
Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez +10 more
wiley +1 more source
Cognitive decline, particularly in dementia, presents complex challenges in early detection and diagnosis. While Item Response Theory (IRT) has been instrumental in identifying patterns of cognitive impairment through psychometric tests, its parametric ...
Veliz Garcia, Oscar +7 more
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Predictors of cognitive decline after chemotherapy in breast cancer patients
The objective of this Study is to identify whether decline in cognitive functioning after chemotherapy in women with breast cancer is associated with health/disease, treatment, and psychological variables.
Vearncombe, Katharine +11 more
core +1 more source
Persistent Bilateral [18F]THK5351 and Migrating Unilateral [18F]FDG Uptake in Anti‐LGI1 Encephalitis
ABSTRACT Anti–leucine‐rich glioma‐inactivated 1 encephalitis (LGI1‐E) can cause persistent cognitive deficits, but the mechanisms remain unclear. A 40‐year‐old woman with LGI1‐E presented with subacute cognitive deficits and showed mild left medial temporal lobe (MTL) swelling and fluid‐attenuated inversion recovery (FLAIR) hyperintensity on initial ...
Yusuke Akitomi +8 more
wiley +1 more source
Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
ABSTRACT Subtotal hippocampal resection can leave residual hippocampal tissue, yet the immediate postoperative electrophysiologic evolution of such remnants is unknown. We describe a patient with drug‐resistant temporal lobe epilepsy in whom a hippocampal remnant was continuously monitored using a responsive neurostimulator (RNS) following subtotal ...
Patrick Hartnett +5 more
wiley +1 more source
Mitchell McMaster,1 Sarang Kim,1 Linda Clare,2 Susan J Torres,3 Catherine D’Este,4 Kaarin J Anstey1,5,6 1Centre for Research on Ageing, Health and Wellbeing, Research School of Population Health, The Australian National University, Canberra, ACT ...
Kim S +5 more
core

