Results 11 to 20 of about 20,251 (253)
Magnetic Oculomotor Prosthetics for Acquired Nystagmus [PDF]
, 2017 PURPOSE: Acquired nystagmus, a highly symptomatic consequence of damage to the substrates of oculomotor control, often is resistant to pharmacotherapy. Although heterogeneous in its neural cause, its expression is unified at the effector-the eye muscles ...
Adams, G +8 more
core +2 more sources
Ataxia in children: early recognition and clinical evaluation [PDF]
, 2017 Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele +6 more
core +1 more source
Longitudinal Quantification of Eye-Movement Impairments after Pontine Hemorrhage
Frontiers in Neurology, 2017 IntroductionWe report a case of hypertrophic olivary degeneration due to pontine hemorrhage. A 59-year-old male with untreated hypertension suffered a primary pontine hemorrhage, which caused horizontal eye-movement limitation.
N. Jeremy Hill +10 more
doaj +1 more source
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy [PDF]
, 2014 Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c ...
Arts, Heleen H +17 more
core +2 more sources
Ocular manifestations in Gorlin-Goltz syndrome [PDF]
, 2019 Background: Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity.
Franzone, F. +8 more
core +1 more source
RPE65 c.393T>A, p.(Asn131Lys): Novel Sequence Variant Detected
Case Reports in Ophthalmological Medicine, 2022 Background. Leber congenital amaurosis (LCA) is a monogenic, but genetically heterogenous disease, and at least 27 genes are implicated. This case report is aimed at providing evidence to link the novel variant RPE65 c.393T>A, p.(Asn131Lys), variant of ...
Mirjana Bjeloš +7 more
doaj +1 more source
Episodic vestibular symptoms in children with a congenital cytomegalovirus infection [PDF]
, 2019 Objective: Congenital cytomegalovirus (cCMV) infection is the most common non-genetic cause of sensorineural hearing loss in children. Although cCMV-induced vestibular loss is demonstrated in several studies, the occurrence of vertigo has been described ...
Dhondt, Cleo +3 more
core +1 more source
Widespread inflammation in CLIPPERS syndrome indicated by autopsy and ultra-high-field 7T MRI [PDF]
, 2016 OBJECTIVE: To examine if there is widespread inflammation in the brain of patients with chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) syndrome by using histology and ultra-high-field MRI at 7.0T.
Blaabjerg, Morten +10 more
core +3 more sources
Electroencephalogram of Healthy Horses During Inhaled Anesthesia. [PDF]
, 2015 BackgroundPrevious study of the diagnostic validity of electroencephalography (EEG) to detect abnormalities in equine cerebral cortical function relied on the administration of various drugs for sedation, induction, and maintenance of general anesthesia ...
Aleman, MR +8 more
core +1 more source
Nystagmus in a Young Male with Celiac Disease
International Journal of Hematology-Oncology and Stem Cell Research, 2012 A 25 y/o male was admitted with iron deficiency anemia and nystagmus. Anti-TTG (IgA) and Anti-endomyosial (IgA) were high and pathologic findings in duodenal biopsy were suggestive of celiac disease.
Nasim Valizadeh +3 more
doaj +2 more sources