Browsing publications by Charlotte Alston

Newcastle AuthorsTitleYear
Abdulraheem Almalki
Charlotte Alston
Professor Robert Lightowlers
Dr Bobby McFarland
Professor Robert Taylor
et al.
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency2014
Dr Gerald Pfeffer
Dr Grainne Gorman
Dr Helen Griffin
Dr Marzena Kurzawa-Akanbi
Dr Ian Wilson
et al.
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance2014
Professor Robert Taylor
Dr Angela Pyle
Dr Helen Griffin
Dr Jennifer Duff
Dr Langping He
et al.
Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies2014
Dr Nichola Lax
Charlotte Alston
Dr Tuomo Polvikoski
Dr Evelyn Jaros
Dr John Yarham
et al.
Early-Onset Cataracts, Spastic Paraparesis, and Ataxia Caused by a Novel Mitochondrial tRNA(Glu) (MT-TE) Gene Mutation Causing Severe Complex I Deficiency: A Clinical, Molecular, and Neuropathologic Study2013
Charlotte Alston
Dr Andrew Schaefer
Kim Krishnan
Dr Langping He
Kate Craig
et al.
Late-Onset Respiratory Failure Due to Tk2 Mutations Causing Multiple MtDNA Deletions2013
Professor Rita Horvath
Charlotte Alston
Dr Patrick Yu Wai Man
Dr Langping He
Professor Robert Taylor
et al.
Near-Identical Segregation of mtDNA Heteroplasmy in Blood, Muscle, Urinary Epithelium, and Hair Follicles in Twins With Optic Atrophy, Ptosis, and Intractable Epilepsy2013
Dr John Yarham
Charlotte Alston
Kate Craig
Dr Kirstie Anderson
Professor Doug Turnbull
et al.
Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease2013
Dr John Yarham
Charlotte Alston
Professor Doug Turnbull
Dr Bobby McFarland
Professor Robert Taylor
et al.
The m.3291T > C mt-tRNALeu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease2013
Dr Gerald Pfeffer
Charlotte Alston
Dr Adam Hassani
Professor Rita Horvath
Professor David Samuels
et al.
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations2012
Charlotte Alston
Dr Langping He
Kate Craig
Dr Andrew Schaefer
Dr Bobby McFarland
et al.
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics2012
1234