Publications by Dr Elisa Molinari - ePrints

Browsing publications by Dr Elisa Molinari

Newcastle Authors	Title	Year
Andrew Browning Dr Gustavo Figueiredo Dr Oliver Baylis Dr Emma Montgomery Dr Elisa Molinari et al.	A case of ocular cystinosis associated with two potentially severe CTNS mutations	2019
Sumaya Alkanderi Dr Elisa Molinari Veronica Sammut Dr Simon Ramsbottom Dr Shalabh Srivastava et al.	ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition	2018
Dr Elisa Molinari Holly Mabillard Dr Shalabh Srivastava Dr Katrina Wood Sumaya Alkanderi et al.	Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants	2018
Dr Shalabh Srivastava Dr Elisa Molinari Professor John Sayer	Many genes-one disease? Genetics of nephronophthisis (NPHP) and NPHP-associated disorders	2018
Dr Simon Ramsbottom Dr Elisa Molinari Dr Shalabh Srivastava Sumaya Alkanderi Laura Devlin et al.	Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model	2018
Dr Simon Ramsbottom Dr Elisa Molinari Dr Shalabh Srivastava Sumaya Alkanderi Laura Devlin et al.	Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model	2018
Dr Elisa Molinari Dr Simon Ramsbottom Veronica Sammut Professor John Sayer	Using zebrafish to study the function of nephronophthisis and related ciliopathy genes [version 1; referees: 1 approved, 2 approved with reservations]	2018
Dr Shalabh Srivastava Dr Simon Ramsbottom Dr Elisa Molinari Sumaya Alkanderi Dr Andrew Filby et al.	A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies	2017
Dr Elisa Molinari Professor John Sayer	Emerging treatments and personalised medicine for ciliopathies associated with cystic kidney disease	2017
Dr Elisa Molinari Dr Shalabh Srivastava Professor John Sayer Dr Simon Ramsbottom	From disease modelling to personalised therapy in patients with CEP290 mutations	2017