Results 41 to 50 of about 479,869 (231)

Morphometry of the Oculomotor Nerve in Duane’s Retraction Syndrome

open access: yes, 2020
Objective: To investigate the morphometric characteristics of the oculomotor nerve and its association with horizontal rectus muscle volume in patients with Duane’s retraction syndrome (DRS) according to the presence of the abducens nerve. Methods:
Min Seok Kang   +4 more
core   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell   +16 more
wiley   +1 more source

Orbital oculomotor nerve schwannoma extending to the cavernous sinus: A rare cause of proptosis

open access: yesJournal of Ophthalmic & Vision Research, 2014
Purpose: To report a case of orbital oculomotor nerve schwannoma extending to the cavernous sinus through the superior orbital fissure presenting with proptosis, but without any neurological sign.
Hina Kauser   +3 more
doaj   +1 more source

Unilateral Oculomotor Nerve Palsy Secondary to Internal Carotid Artery Aneurysm Without Pupil involvement: A Case Report

open access: yes, 2023
Acquired oculomotor palsies (OMP) can result from numerous factors. The most common causes are presumed microvascular, trauma, compressive neoplasm, postneurosurgery and compression from aneurysm.1,2 ONP caused by internal carotid artery (ICA) aneurysm ...
Danilo Andriatti Paulo; Richard J Blanch
core  

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri   +5 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

Oculomotor nerve schwannoma associated with ophthalmoplegic migraine

open access: yes, 1999
PURPOSE: To describe a patient with an oculomotor nerve schwannoma who had symptoms of ophthalmoplegic migraine. METHODS: Case report. RESULTS: A 23-year-old woman had a history of recurrent headache accompanied by transient right oculomotor palsy since ...
Kawasaki, A., Aki Kawasaki
core   +1 more source

Exceptional preservation informs the paleobiology of tapinocephalid dinocephalians

open access: yesThe Anatomical Record, EarlyView.
Abstract The tapinocephalid dinocephalian Moschops is one of the most iconic taxa of the middle Permian, yet its paleobiology remains one of the least well‐known. Here, we address some aspects of paleoneurology and paleobiology of Moschops using CT scanning of four well preserved skulls from the upper Abrahamskraal Formation of South Africa. Two of the
Julien Benoit   +6 more
wiley   +1 more source

An unexpected case report of epidermoid cyst at the oculomotor nerve: mimicking a common cyst on MRI

open access: yesFrontiers in Endocrinology, 2023
Intracranial epidermoid cysts are benign lesions and are rarely seen in clinical practice. Owing to similarities in imaging findings to those of common cystic lesions, the preoperative diagnosis is rendered challenging.
Yuhao He, Sunfu Zhang
doaj   +1 more source

Production of 3D printed biomodels of the canine brain for veterinary neuroanatomy teaching

open access: yesAnatomical Sciences Education, EarlyView.
Abstract Teaching neuroanatomy presents multiple challenges to both students and teachers, as it is a subject with highly dense content that commonly causes the development of aversion by students, a phenomenon referred to as “neurophobia,” which has been documented in human and veterinary medicine students.
João Victor Barbosa Tenório Fireman   +1 more
wiley   +1 more source

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