Browsing publications by Charlotte Alston

Newcastle AuthorsTitleYear
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
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
Dr Julie Murphy
Gavin Falkous
Charlotte Alston
Professor Robert Taylor
Professor Doug Turnbull
et al.
Cytochrome c oxidase-intermediate fibres: Importance in understanding the pathogenesis and treatment of mitochondrial myopathy2012
Charlotte Alston
Professor Rita Horvath
Professor Michael Hanna
Professor Patrick Chinnery
Professor Doug Turnbull
et al.
Expanding the phenotypic and genotypic spectrum of adult RRM2B-related mitochondrial disease2012
Dr Julie Murphy
Thiloka Ratnaike
Ersong Shang
Gavin Falkous
Charlotte Alston
et al.
Long term endurance training and deconditioning in patients with mitochondrial myopathy2012
Dr Matt Bates
Dr Victoria Nesbitt
Dr Langping He
Charlotte Alston
Dr Malcolm Brodlie
et al.
Mitochondrial respiratory chain disease in children undergoing cardiac transplantation: A prospective study2012
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