Results 191 to 200 of about 7,431,248 (353)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas   +18 more
wiley   +1 more source

Mechanical failure modes of chronically implanted planar silicon-based neural probes for laminar recording

open access: green, 2014
Takashi D.Y. Kozai   +6 more
openalex   +1 more source

Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou   +12 more
wiley   +1 more source

The Relationship Between Inflammation and Central Nervous System in Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Aim Multiple sclerosis is an autoimmune demyelination disease that is seen especially in the young population and has a progressive course, causing motor, sensory, and cognitive deficits. In the literature, the pathogenesis of MS disease and the interconnection between the immune and central nervous system in the disease have not been fully ...
Gamze Ansen   +5 more
wiley   +1 more source

Design failure mode effects analysis and customer approach matrix: A case study in an automotive company [PDF]

open access: green, 2018
Mohd Akhir Ahmad   +3 more
openalex  

The Case of a 28‐Year‐Old Woman With Medically Refractory Focal Epilepsy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present the case of a 28‐year‐old right‐handed woman with medically refractory focal epilepsy. Her seizure semiology and electroencephalography (EEG) indicated a seizure onset zone in the right central‐parietal area. However, both MRI and PET scans were unremarkable, showing no focal lesions or areas of altered metabolism.
Rishi Sharma   +5 more
wiley   +1 more source

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