Publications by Dr Fiona Norwood - ePrints

Browsing publications by Dr Fiona Norwood.

Newcastle Authors	Title	Year
Dr Katherine Johnson Dr Ana Topf Dr Marta Bertoli Lauren Charlotte Phillips Phillips Dr James Miller et al.	Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population	2019
Dr German Moris Libby Wood Roberto Fernandez-Torron Dr Adela Cora Dr Fiona Norwood et al.	Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy	2018
Sila Hopton Gavin Falkous Dr Fiona Norwood Professor Grainne Gorman Professor Robert Taylor et al.	Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene	2018
Libby Wood Roberto Fernandez-Torron Dr John Hudson Dr Fiona Norwood Professor Michela Guglieri et al.	Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry	2016
Dr Anna Sarkozy Dr Rita Barresi Dr Marta Bertoli Emerita Professor Katherine Bushby Professor Hanns Lochmuller et al.	Eight novel UK families further expand current knowledge on GMPPB-gene related dystroglycanopathies	2015
Dr Teresinha Evangelista Libby Wood Dr Fiona Norwood Professor Hanns Lochmuller	Pain and quality of life in the UK FSHD patient registry	2015
Dr Amina Chaouch Dr Fiona Norwood Professor Rita Horvath Professor Patrick Chinnery Dr Tuomo Polvikoski et al.	Two recurrent mutations are associated with GNE myopathy in the North of Britain	2014
Dr Anna Sarkozy Dr Debbie Hicks Dr Steven Laval Dr Rita Barresi Dr Lizzie Harris et al.	ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation	2013
Professor Volker Straub Professor Hanns Lochmuller Dr Anna Sarkozy Dr Fiona Norwood Emerita Professor Katherine Bushby et al.	Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies (vol 33, pg 981, 2012)	2012
Professor Volker Straub Professor Hanns Lochmuller Dr Anna Sarkozy Dr Fiona Norwood Emerita Professor Katherine Bushby et al.	Clinical and Genetic Findings in a Large Cohort of Patients with Ryanodine Receptor 1 Gene-Associated Myopathies	2012
Dr Debbie Hicks Dr Anna Sarkozy Dr Anne Lampe Dr Fiona Norwood Professor Volker Straub et al.	EM.P.4.05 Bethlem myopathy; new insights on prevalence, phenotypic variability and genetic heterogeneity	2009
Dr Fiona Norwood Professor Patrick Chinnery Dr Michelle Eagle Emerita Professor Katherine Bushby Professor Volker Straub et al.	Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population	2009
Dr Fiona Norwood Professor Hanns Lochmuller Emerita Professor Katherine Bushby	EFNS guideline on diagnosis and management of limb girdle muscular dystrophies	2007
Emerita Professor Katherine Bushby Dr Fiona Norwood Professor Volker Straub	The limb-girdle muscular dystrophies-Diagnostic strategies	2007
Emerita Professor Katherine Bushby Dr Fiona Norwood Professor Volker Straub	The limb-girdle muscular dystrophies--diagnostic strategies	2007
Dr Fiona Norwood Professor Patrick Chinnery Emerita Professor Katherine Bushby Professor Volker Straub	On the classification, natural history and treatment of the myopathies' 50 years on: population study of muscle disease in the Northern region of England	2005