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Measurement properties of multidimensional patient-reported outcome measures in neurodisability: a systematic review of evaluation studies.
(Wiley, 2015-12-11)To identify and appraise the quality of studies that primarily assessed the measurement properties of English language versions of multidimensional patient-reported outcome measures (PROMs) when evaluated with children ... -
Blood Oxygen Saturation After Ischemia is Altered With Abnormal Microvascular Reperfusion.
(Wiley, 2015-05)We have previously described a distinct abnormality in the cutaneous microcirculation that is characterized by an abnormal reperfusion response following an ischemic stimulus. We investigated the physiological significance ... -
Echogenicity of the Common Carotid Artery Intima-Media Complex in Stroke.
(Elsevier, 2016-03-01)The grey-scale median of the common carotid artery intima-media complex (IM-GSM) characterizes arterial wall composition, and a low IM-GSM is associated with increased cardiovascular mortality in the elderly. We aimed to ... -
On Picturing a Candle: The Prehistory of Imagery Science.
(Frontiers In Psychology, 2016-04-07)The past 25 years have seen a rapid growth of knowledge about brain mechanisms involved in visual mental imagery. These advances have largely been made independently of the long history of philosophical - and even psychological ... -
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
(Oxford Journals, 2017-11-01)The presynaptic, high-affinity choline transporter is a critical determinant of signalling by the neurotransmitter acetylcholine at both central and peripheral cholinergic synapses, including the neuromuscular junction. ... -
Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis.
(BMJ, 2016-06)Patients presenting with distal weakness can be a diagnostic challenge; the eventual diagnosis often depends upon accurate clinical phenotyping. We present a mother and daughter with a rare form of distal hereditary motor ... -
The HERC2 ubiquitin ligase is essential for embryonic development and regulates motor coordination.
(Oncotarget, 2016-08-30)A mutation in the HERC2 gene has been linked to a severe neurodevelopmental disorder with similarities to the Angelman syndrome. This gene codifies a protein with ubiquitin ligase activity that regulates the activity of ... -
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
(Oxford Journals, 2017-02-28)PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of molecules important for cell motility, and implicated in cancer progression. Here we investigated multiple families from Oman, India, Iran ... -
Profiling Regulatory Variation in the Brain: Methods for Exploring the Neuronal Epigenome.
(Elsevier, 2017-01-15) -
Prescribing sodium oxybate for narcolepsy.
(BMJ, 2016-04-28)