Results 91 to 100 of about 65,918 (263)

Phenotypic Clues in Infantile‐Onset Parkinsonism‐Dystonia‐2: A Treatable Neurotransmitter Disorder

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Sangeetha Yoganathan   +10 more
wiley   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

open access: yesThe FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio   +12 more
wiley   +1 more source

Refractive status and ocular biometric parameters in children undergoing the levator muscle-conjoint fascial sheath complex suspension

open access: yesBMC Ophthalmology
Purpose To evaluate the effect of the levator muscle-conjoint Fascial Sheath Complex Suspension on ocular biometric parameters and refractive status in children with congenital blepharoptosis.
Ting Fu   +6 more
doaj   +1 more source

Trigemino-oculomotor synkinesis: Report of a rare case

open access: yesJournal of Indian Academy of Oral Medicine and Radiology, 2014
Trigeminal-oculomotor synkinesis also known as the Marcus Gunn jaw winking phenomenon was first described by the ophthalmologist, Marcus Gunn, in 1883.
Manjiri Joshi   +2 more
doaj   +1 more source

Functional protection by acute phase proteins alpha(1)-acid glycoprotein and alpha(1)-antitrypsin against ischemia/reperfusion injury by preventing apoptosis and inflammation. [PDF]

open access: yes, 2000
BACKGROUND: Ischemia followed by reperfusion (I/R) causes apoptosis, inflammation, and tissue damage leading to organ malfunction. Ischemic preconditioning can protect against such injury.
BUURMAN, WA   +6 more
core   +3 more sources

Medication Errors in Perioperative Nursing: A Scoping Review

open access: yesJournal of Clinical Nursing, EarlyView.
ABSTRACT Aim To map the current literature on the characteristics of nurse‐related medication errors in perioperative healthcare settings. Design A scoping review. Methods This scoping review used the five‐stage framework developed by Arksey and O'Malley (2005).
Chamila Wickramasinghe   +2 more
wiley   +1 more source

Superior Lens Coloboma with Superior Rectus Palsy and Congenital Ptosis

open access: yesJournal of Optometry, 2009
A lens coloboma is characterized by the lens tissue's notching at the equator. It is usually inferior-nasal else it is called an atypical coloboma. We report a young male who presented with a superior lens coloboma, an elevation deficit and moderate ...
Jitendra Jethani   +2 more
doaj   +1 more source

Molecular characterisation of congenital myasthenic syndromes in Southern Brazil [PDF]

open access: yes, 2010
Objective To perform genetic testing of patients with congenital myasthenic syndromes (CMS) from the Southern Brazilian state of Parana. Patients and methods Twenty-five CMS patients from 18 independent families were included in the study.
Abicht, A.   +12 more
core   +1 more source

Rethinking Mitochondrial Parkinson's Disease in the α‐Synuclein Seed Amplification Assays Era

open access: yes
Movement Disorders, EarlyView.
Marco Percetti   +3 more
wiley   +1 more source

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