The journey of metformin from glycaemic control to mTOR inhibition and the suppression of tumour growth
S Amin, A Lux, F O'Callaghan - British journal of clinical …, 2019 - Wiley Online Library
Our knowledge of the effect of metformin on human health is increasing. In addition to its
ability to improve the control of hyperglycaemia, metformin has been shown to reduce the …
ability to improve the control of hyperglycaemia, metformin has been shown to reduce the …
Severity assessment in CDKL5 deficiency disorder
S Demarest, EM Pestana-Knight, HE Olson, J Downs… - Pediatric …, 2019 - Elsevier
Background Pathologic mutations in cyclin-dependent kinase-like 5 cause CDKL5
deficiency disorder, a genetic syndrome associated with severe epilepsy and cognitive …
deficiency disorder, a genetic syndrome associated with severe epilepsy and cognitive …
Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial
EMP Knight, S Amin, N Bahi-Buisson… - The Lancet …, 2022 - thelancet.com
Background CDKL5 deficiency disorder (CDD) is a rare, X-linked, developmental and
epileptic encephalopathy characterised by severe global developmental impairment and …
epileptic encephalopathy characterised by severe global developmental impairment and …
Causes of mortality in individuals with tuberous sclerosis complex
S Amin, A Lux, N Calder, M Laugharne… - … medicine & child …, 2017 - Wiley Online Library
Aim The causes of death in patients with tuberous sclerosis complex (TSC) have rarely been
studied, with only one published account, which was reported from the Mayo Clinic in 1991 …
studied, with only one published account, which was reported from the Mayo Clinic in 1991 …
[PDF][PDF] De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
S Lu, M Ma, X Mao, CA Bacino, J Jankovic… - The American Journal of …, 2022 - cell.com
Proteins containing the FERM (four-point-one, ezrin, radixin, and moesin) domain link the
plasma membrane with cytoskeletal structures at specific cellular locations and have been …
plasma membrane with cytoskeletal structures at specific cellular locations and have been …
Outcome and recurrence 1 year after pediatric arterial ischemic stroke in a population‐based cohort
AA Mallick, V Ganesan, FJ Kirkham, P Fallon… - Annals of …, 2016 - Wiley Online Library
Objective Arterial ischemic stroke (AIS) is an important cause of acquired brain injury in
children. Few prospective population‐based studies of childhood AIS have been completed …
children. Few prospective population‐based studies of childhood AIS have been completed …
[HTML][HTML] International consensus recommendations for the assessment and management of individuals with CDKL5 deficiency disorder
S Amin, M Monaghan, A Aledo-Serrano… - Frontiers in …, 2022 - frontiersin.org
CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a
developmental and epileptic encephalopathy (DEE). The incidence is between~ 1: 40,000 …
developmental and epileptic encephalopathy (DEE). The incidence is between~ 1: 40,000 …
[HTML][HTML] Treatment guidelines for rare, early-onset, treatment-resistant epileptic conditions: A literature review on dravet syndrome, lennox-gastaut syndrome and …
RF Chin, A Mingorance, B Ruban-Fell, I Newell… - Frontiers in …, 2021 - frontiersin.org
Background: Dravet syndrome (DS), Lennox-Gastaut syndrome (LGS) and CDKL5
deficiency disorder (CDD) are rare epileptic conditions, characterised by drug-resistant …
deficiency disorder (CDD) are rare epileptic conditions, characterised by drug-resistant …
The UK guidelines for management and surveillance of Tuberous Sclerosis Complex
S Amin, JC Kingswood, PF Bolton… - … Journal of Medicine, 2019 - academic.oup.com
Abstract Background The severity of Tuberous Sclerosis Complex (TSC) can vary among
affected individuals. Complications of TSC can be life threatening, with significant impact on …
affected individuals. Complications of TSC can be life threatening, with significant impact on …
Pharmacological management of abnormal tone and movement in cerebral palsy
DE Lumsden, B Crowe, A Basu, S Amin… - Archives of disease in …, 2019 - adc.bmj.com
Background The evidence base to guide the pharmacological management of tone and
abnormal movements in cerebral palsy (CP) is limited, as is an understanding of routine …
abnormal movements in cerebral palsy (CP) is limited, as is an understanding of routine …