Publications by Gail Eglon - ePrints

Browsing publications by Gail Eglon.

Newcastle Authors	Title	Year
Libby Wood Dr Chiara Marini Bettolo Dr Michela Guglieri Dr Grace McMacken Dr Anna Mayhew et al.	Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy	2017
Dr Gerald Pfeffer Dr Angela Pyle Dr Helen Griffin Valerie Wilson Dr Lisa Turnbull et al.	SPG7 mutations are a common cause of undiagnosed ataxia	2015
Dr Michael Keogh Dr Angela Pyle Daniyal Daud Dr Helen Griffin Dr Konstantinos Douroudis et al.	Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB	2015
Dr Angela Pyle Tania Smertenko Dr David Bargiela Dr Helen Griffin Dr Jennifer Duff et al.	Exome sequencing in undiagnosed inherited and sporadic ataxias	2015
Daniyal Daud Dr Helen Griffin Dr Konstantinos Douroudis Gail Eglon Dr Angela Pyle et al.	Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering	2015
Dr David Bargiela Gail Eglon Professor Rita Horvath Professor Patrick Chinnery	An under-recognised cause of spastic paraparesis in middle-aged women	2014
Professor Lynn Rochester Dr Brook Galna Dr Susan Lord Dadirayi Mhiripiri Gail Eglon et al.	Gait impairment procedes clinical symptoms in spinocerebellar ataxia type 6	2014
Dr Ian Schofield Gail Eglon Professor Patrick Chinnery Professor Rita Horvath	Charcot-Marie-Tooth disease in Northern England	2012
Dr Angela Pyle Dr Helen Griffin Dr Patrick Yu Wai Man Dr Jennifer Duff Gail Eglon et al.	Prominent Sensorimotor Neuropathy Due to SACS Mutations Revealed by Whole-Exome Sequencing	2012