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Browsing publications by Gail Eglon

Newcastle AuthorsTitleYearFull text
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 dystrophy2017
Dr Gerald Pfeffer
Dr Angela Pyle
Dr Helen Griffin
Valerie Wilson
Dr Lisa Turnbull
et al.
SPG7 mutations are a common cause of undiagnosed ataxia2015
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 PDGFB2015
Dr Angela Pyle
Tania Smertenko
Dr David Bargiela
Dr Helen Griffin
Dr Jennifer Duff
et al.
Exome sequencing in undiagnosed inherited and sporadic ataxias2015
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 filtering2015
Dr David Bargiela
Gail Eglon
Professor Rita Horvath
Professor Patrick Chinnery
An under-recognised cause of spastic paraparesis in middle-aged women2014
Professor Lynn Rochester
Dr Brook Galna
Dr Susan Lord
Dadirayi Mhiripiri
Gail Eglon
et al.
Gait impairment procedes clinical symptoms in spinocerebellar ataxia type 62014
Dr Ian Schofield
Gail Eglon
Professor Patrick Chinnery
Professor Rita Horvath
Charcot-Marie-Tooth disease in Northern England2012
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 Sequencing2012