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Browsing publications by Gail Eglon.

Newcastle AuthorsTitleYearFull text
Dr Marianela Schiava
Robert Muni Lofra
Dr John Bourke
Meredith James
Professor Jordi Diaz Manera
et al.
Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy2024
Dr Marianela Schiava
Dr John Bourke
Meredith James
Dr Maha Elseed
Dr Monika Malinova
et al.
Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids2024
Libby Wood
Professor Chiara Marini Bettolo
Professor 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