Browsing publications by Dr Mark Buddles

Newcastle AuthorsTitleYearFull text
Dr Grainne Gorman
Joanna Stewart
Dr Mark Buddles
Professor Patrick Chinnery
Professor Doug Turnbull
et al.
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO2010
Dr Grainne Gorman
Joanna Stewart
Dr Mark Buddles
Professor Patrick Chinnery
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 patients2009
Dr Mark Buddles
Professor Doug Turnbull
Professor Robert Taylor
Phenotypic Diversiry Associated with the Mitochondrial m.8313G > A Point Mutation2009
Dr Anne Lampe
Dr Michelle Eagle
Dr Mark Buddles
Professor Volker Straub
Professor Katherine Bushby
et al.
Bethlem myopathy, autosomal dominant and X-linked Emery Dreifuss muscular dystrophy - comparison of contractural phenotypes2005
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 epilepsy2004
Professor Judith Goodship
Dr Helen Blair
Dr Mark Buddles
Dr Ann Curtis
Deficiency of synapsin I, a synaptic vesicle protein, causes epilepsy2003
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 2I2003
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 2I2002
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 recognition2001
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 syndrome2000
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