Dr Angela PyleSenior Research Associate
Email: angela.pyle@ncl.ac.uk Telephone: +44 (0) 191 241 8818 Fax: ++44(0)191 222 8553 Address: Institute of Human Genetics
Horvath PO, Czermin B, Gulati S, Pyle A, Hassani A, Foley C, Taylor RW, Chinnery PF. Adult-onset cerebellar ataxia due to mutations in the CABC1/ADCK3 gene .
In: Journal of Neurology, Neurosurgery and Psychiatry: Association of British Neurologists Annual Meeting . 2012, Gateshead, UK: BMJ Group.
Voets AM, van den Bosch BJ, Stassen AP, Hendrickx AT, Hellebrekers DM, Van Laer L, Van Eyken E, VanCamp G, Pyle A, Baudouin SV, Chinnery PF, Smeets HJ. Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution .
Mitochondrion 2011, 11 (6), 964-972.
de Alwis N, Aithal G, Bugianesi E, Leathart J, Hudson G, Pyle A, Mowbray C, Henderson E, Burt AD, Chinnery PF, Day CP. Mitochondrial DNA does not contribute to the heritability of non-alcoholic fatty liver disease .
Mitochondrion 2011, 11 (1), 234-235.
Stewart JD, Schoeler S, Sitarz KS, Horvath R, Hallmann K, Pyle A, Yu-Wai-Man P, Taylor RW, Samuels DC, Kunz WS, Chinnery PF. POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts .
Biochimica et Biophysica Acta: Molecular Basis of Disease 2011, 1812 (3), 321-325.
Pollitt C, Anderson LVB, Pogue R, Davison K, Pyle A, Bushby KMD. Variations on a theme: a multi-disciplinary approach to diagnosis elucidates the phenotype of calpainopathy (LGMD2A) .
NEUROMUSCULAR DISORDERS (In Press)<br>(Article) 2000.
