Results 151 to 160 of about 1,994,101 (341)

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt   +9 more
wiley   +1 more source

Ictal and Interictal Electroencephalography of Mesial and Lateral Temporal Lobe Epilepsy; A Comparative Study

open access: yesCaspian Journal of Neurological Sciences, 2017
Background: Epilepsy is considered as one of the most important disorders in neurology. Temporal lobe epilepsy is a form of epilepsy including two main types of mesial and lateral (neocortex).
Jafar Mehvari   +4 more
doaj  

Laser interstitial thermal therapy for medically intractable mesial temporal lobe epilepsy

open access: yesEpilepsia, 2016
Joon Y. Kang   +9 more
semanticscholar   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu   +6 more
wiley   +1 more source

Analysis on early clinical features of behavioral variant frontotemporal dementia

open access: yesChinese Journal of Contemporary Neurology and Neurosurgery, 2017
Background Although the early behavioral symptoms of behavioral variant frontotemporal dementia (bvFTD) are prominent, early diagnosis for bvFTD is difficult due to confusion with other mental disorders, and lack of sensitivity and specificity of ...
Guan-jun LI   +5 more
doaj  

Development of an in situ small intestinal injection technique for targeted macromolecule delivery and in vivo functional studies in mice

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study developed a minimally invasive, in situ small intestinal injection technique for mice, enabling targeted delivery of bioactive molecules while bypassing gastric degradation. Validation using functional assays and single‐cell RNA sequencing reveals high‐mobility group box 1–mediated epithelial responses, offering a translational tool for gut ...
Yawen Lai   +7 more
wiley   +1 more source

Hyperphosphorylated tau in patients with refractory epilepsy correlates with cognitive decline: a study of temporal lobe resections.

open access: yesBrain : a journal of neurology, 2016
X. Tai   +9 more
semanticscholar   +1 more source

Clinical–Radiological Spectrum of Cerebral Amyloid Angiopathy‐Related Inflammation

open access: yesAnnals of Neurology, EarlyView.
Objective To identify clinical and radiological features of cerebral amyloid angiopathy‐related inflammation (CAA‐ri), and compare these features with those of sporadic CAA, to improve the understanding, diagnosis, and clinical care of CAA‐ri. Methods We retrospectively reviewed routine clinical data from 37 patients with CAA‐ri and 158 patients with ...
Larysa Panteleienko   +9 more
wiley   +1 more source

Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Have Distinct Prediagnostic Blood Biochemical Profiles

open access: yesAnnals of Neurology, EarlyView.
Objective Identifying modifiable factors influencing amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) risk is important for prevention. Blood biomarkers, particularly cholesterol, have been associated with neurodegenerative risk, but findings in ALS are inconsistent, and data on FTD are limited.
Christos V. Chalitsios   +5 more
wiley   +1 more source

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