Publications by Dr Mark Buddles - ePrints

Browsing publications by Dr Mark Buddles.

Newcastle Authors	Title	Year
Dr Desa Lilic Dr Mark Buddles	Double Trouble? CMC with a Mutation in both AIRE and STAT1	2018
Professor Grainne Gorman Joanna Stewart Dr Mark Buddles Professor Patrick Chinnery Emeritus Professor Doug Turnbull et al.	The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO	2010
Professor Grainne Gorman Joanna Stewart Dr Mark Buddles Professor Patrick Chinnery Emeritus Professor Doug Turnbull et al.	Autosomal dominant Progressive External Ophthalmoplegia (adPEO) due to mutations in the PEO1 gene: A clinical, histochemical and molecular survey of 33 patients	2009
Dr Mark Buddles Emeritus Professor Doug Turnbull Professor Robert Taylor	Phenotypic Diversiry Associated with the Mitochondrial m.8313G > A Point Mutation	2009
Dr Anne Lampe Dr Michelle Eagle Dr Mark Buddles Professor Volker Straub Emerita Professor Katherine Bushby et al.	Bethlem myopathy, autosomal dominant and X-linked Emery Dreifuss muscular dystrophy - comparison of contractural phenotypes	2005
Dr Helen Blair Dr Mark Buddles Dr Ann Curtis Professor Judith Goodship	Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy	2004
Professor Judith Goodship Dr Helen Blair Dr Mark Buddles Dr Ann Curtis	Deficiency of synapsin I, a synaptic vesicle protein, causes epilepsy	2003
Dr Lynsey Cree Dr John Bourke Dr Michelle Eagle Dr Louise VB Anderson Dr Daniel Birchall et al.	The phenotype of limb-girdle muscular dystrophy type 2I	2003
Dr Michelle Eagle Dr John Bourke Dr Robert Bullock Dr Lynsey Cree Dr Mark Buddles et al.	Respiratory and cardiac involvement are a primary part of limb-girdle muscular dystrophy 2I	2002
Dr Mark Buddles Dr Rosemary Donne Professor Judith Goodship Professor Tim Goodship	Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition	2001
Dr Mark Buddles Dr Rosemary Donne Amy Richards Professor Judith Goodship Professor Tim Goodship et al.	Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome	2000
Dr Mark Buddles Professor Judith Goodship	A family with X-linked epilepsy mapping to Xp11-Xq13	1999