A. T.
Neuronal oscillations optimize stimulus discrimination by ensuring action potential precision (2006)
- Schaefer,
- A.T.,
- Angelo,
- K.,
- Spors,
- H.,
- ...
Progressive cone and cone-rod dystrophies: Phenotypes and underlying molecular genetic basis. (2006)
- Wu,
- H.,
- Cowing,
- J.A.,
- Michaelides,
- M.,
- ...
Forty-five juvenile tilapia and 30 weanling albino rats exposed to water containing 50, 100 and 150ppm of aqueous extract of Aloe Vera leaves for 96 hours and 28 days, respectively were used for...
- Themis,
- M.,
- Waddington,
- S.N.,
- Schmidt,
- M.,
- ...
Gene therapy by use of integrating vectors carrying therapeutic transgene sequences offers the potential for a permanent cure of genetic diseases by stable vector insertion into the patients'...
Shwachman-Diamond syndrome (SDS) is an autosomal-recessive disorder characterized by short stature, exocrine pancreatic insufficiency, and hematologic defects. The causative SBDS gene was sequenced...
OBJECTIVES: The aim of this study was to characterize the time course and neuronal mechanism of remote ischemic preconditioning (RIPC) of the vasculature in humans. BACKGROUND: Non-lethal ischemia of...
OBJECTIVE: The spondylarthritides (SpA) are strongly associated with possession of HLA-B27. We hypothesized that the expression of abnormal forms of HLA-B27 in SpA may have a pathogenic role through...
- Chan,
- A.T.,
- Kollnberger,
- S.,
- Wedderburn,
- L.,
- ...
DNA replication licensing and cell cycle kinethcs of normal and neoplastic breast (2005)
- Shetty,
- A.,
- Loddo,
- M.,
- Fanshawe,
- T.,
- ...
- Kingsbury,
- S.R.,
- Loddo,
- M.,
- Fanshawe,
- T.,
- ...
A detailed phenotypic study of "cone dystrophy with supernormal rod ERG" (2005)
AIMS: To characterise the detailed phenotype of "cone dystrophy with supernormal rod ERG" in a case series of 10 patients. METHODS: 10 affected patients were examined clinically and underwent colour...
AIM: To characterise the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with the Arg844His mutation in RIM1. METHODS: Eight members of a four generation, non-consanguineous...
- Michaelides,
- M.,
- Johnson,
- S.,
- Simunovic,
- M.P.,
- ...
AIM: To perform a detailed clinical and psychophysical assessment of the members of three British families affected with blue cone monochromatism (BCM), and to determine the molecular basis of...
Compensatory strategy use identifies risk of incident disability for the visually impaired (2005)
BACKGROUND: Use of compensatory strategies may be a marker for preclinical disability. OBJECTIVE: To determine, among persons who did not report mobility disability, if the reported use of...
- Michaelides,
- M.,
- Holder,
- G.E.,
- Bradshaw,
- K.,
- ...
PURPOSE: To determine the underlying molecular genetic basis of a retinal dystrophy identified in a 5-generation family, and to examine the phenotype and degree of intrafamilial variability. DESIGN:...
PURPOSE: To test the incidence of mutations in RPGR ORF15 in six families with X-linked progressive retinal degeneration (cone-rod dystrophy [XLCORD], macular or cone dystrophy) and to undertake a...
- Michaelides,
- M.,
- Wilkie,
- S.E.,
- Jenkins,
- S.,
- ...
PURPOSE: To determine the underlying molecular genetic basis of a retinal dystrophy identified in a 4-generation family and to examine the phenotype and the degree of intrafamilial variability....
X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients (2005)
BACKGROUND: Inactivating mutations of the gene RS1 lead to X-linked retinoschisis, a progressive retinal dystrophy characterised by schisis within the inner layers of the neuroretina. The mutation...
Is Optic Nerve Fibre Mis-Routing a Feature of Congenital Stationary Night Blindness? (2005)
Purpose: To determine whether patients with congenital stationary night blindness (CSNB) have electrophysiological evidence of optic nerve fibre mis-routing similar to that found in patients with...
MCAK associates with the tips of polymerizing microtubules (2005)
- Moore,
- A.T.,
- Rankin,
- K.E.,
- Von Dassow,
- G.,
- ...
MCAK is a member of the kinesin-13 family of microtubule (MT)-depolymerizing kinesins. We show that the potent MT depolymerizer MCAK tracks (treadmills) with the tips of polymerizing MTs in living...
- Wang,
- T.,
- Waters,
- C.T.,
- Jakins,
- T.,
- ...
X-linked cone dysfunction syndrome with myopia and protanopia (2005)
- Michaelides,
- M.,
- Johnson,
- S.,
- Bradshaw,
- K.,
- ...
PURPOSE: To perform a detailed clinical, psychophysical, and molecular assessment of members of 4 families with an unusual X-linked cone dysfunction syndrome associated with myopia. PARTICIPANTS:...
- Forshew,
- T.,
- Johnson,
- C.A.,
- Khaliq,
- S.,
- ...
Isolated (non-syndromic) congenital cataract may be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive trait. Considerable progress has been made in identifying genes and...
BACKGROUND: The authors recently identified three large genetically unrelated families with an identical 17 base pair duplication mutation in exon 4 of the PITX3 gene. Here, they report the detailed...
PURPOSE: Assess ERG responses recorded with skin electrodes in children with retinal dystrophies. METHOD: ERG responses were recorded using skin electrodes in 17 healthy children and 43 paediatric...
Genetics of childhood cataract (2004)
PURPOSE OF REVIEW: Congenital cataracts, although much less common than their age-related counterparts, account for one-tenth of cases of childhood blindness. Approximately half are inherited, either...
Microbial keratitis in ITU staff: an occupational hazard? (2004)
- Ezra,
- D.G.,
- Goyal,
- S.,
- Moosavi,
- R.,
- ...
Microbial keratitis is a potentially blinding corneal infection; the infection may progress rapidly if untreated and result in corneal perforation. The breakdown of the innate ocular defences is...
An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta (2004)
- Michaelides,
- M.,
- Bloch-Zupan,
- A.,
- Holder,
- G.E.,
- ...
- Dale,
- J.W.,
- Al Ghusein,
- H.,
- Butcher,
- P.,
- ...
Organization of the visual cortex in human albinism (2003)
In albinism there is an abnormal projection of part of the temporal retina to the visual cortex contralateral to the eye. This projection, together with the normally routed fibers from nasal retina,...
The genetics of inherited macular dystrophies (2003)
The inherited macular dystrophies comprise a heterogeneous group of disorders characterised by central visual loss and atrophy of the macula and underlying retinal pigment epithelium (RPE). The...
- Stoeber,
- K.,
- Swinn,
- R.,
- Prevost,
- A.T.,
- ...
A multi-shell algorithm to reconstruct EIT images of brain function (2002)
Electrical impedance tomography (EIT) may be used to image brain function, but an important consideration is the effect of the highly resistive skull and other extracerebral layers on the flow of...
Benign central neurocytoma (2000)
- Ashkan,
- K.,
- Casey,
- A.T.,
- D'Arrigo,
- C.,
- ...
BACKGROUND: "Central neurocytoma" is classically considered as an intraventricular benign tumor, largely based on data from small retrospective series. The authors present prospective data on 12...
The oxygen trail: tissue oxygenation (1999)
- Nathan,
- A.T.,
- Singer,
- M.
- Perry,
- A. T.,
- --1942-
Vita.