Results 191 to 200 of about 121,621 (353)

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia

open access: yesEuropean Journal of Human Genetics, 2015
E. Ylikallio   +6 more
semanticscholar   +1 more source

Astrocyte Lipid Droplet Dynamics Orchestrate Neurological Disorders and Therapeutic Horizons

open access: yesSmall Science, EarlyView.
This review examines astrocyte lipid droplet (LD) metabolism in neurological disorders, including Alzheimer's disease, stroke, epilepsy, and glioma. It analyzes regulatory mechanisms governing LD formation, transport, and degradation in astrocytes, highlighting their potential as biomarkers and therapeutic targets through integrative multiomics ...
Jiani Zhong   +4 more
wiley   +1 more source

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

open access: yesEuropean Journal of Human Genetics, 2015
K. Choquet   +12 more
semanticscholar   +1 more source

Rediscovery of the Tubulin β‐4A p.Arg2Gly Variant in Whispering Dysphonia: A Report from Austria

open access: yes
Movement Disorders, EarlyView.
Omar Keritam   +7 more
wiley   +1 more source

Self‐Driving Microscopes: AI Meets Super‐Resolution Microscopy

open access: yesSmall Methods, EarlyView.
This review examines the use of machine learning to automate super‐resolution optical microscopy, enabling the microscope to autonomously make decisions on what, when, and how to image. By eliminating the need for human intervention, this approach has the potential to enhance the versatility and accessibility of super‐resolution microscopy.
Edward N. Ward   +3 more
wiley   +1 more source

Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants. [PDF]

open access: yesAnn Indian Acad Neurol
Özdemir TR   +7 more
europepmc   +1 more source

Esophageal and Oropharyngeal Dysphagia: Clinical Recommendations From the United European Gastroenterology and European Society for Neurogastroenterology and Motility

open access: yesUnited European Gastroenterology Journal, EarlyView.
ABSTRACT Dysphagia is a prevalent symptom of the upper gastrointestinal tract causing health related consequences, impacting quality of life and is associated with global economic burden. Swallowing difficulties are classified into oropharyngeal dysphagia (OD) and esophageal dysphagia.
Amir Mari   +45 more
wiley   +1 more source

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