Publications by authors named "Kate Craig"

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Mitochondrial Donation and Preimplantation Genetic Testing for mtDNA Disease.
Louise A Hyslop, Emma L Blakely, Magomet Aushev, Jordan Marley, Yuko Takeda, Angela Pyle, Eilis Moody, Catherine Feeney, Jan Dutton, Carol Shaw

N Engl J Med· July 2025

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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
Direnis Erdinc, Alejandro Rodríguez-Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Kate Craig

EMBO Mol Med· May 2023

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Changing faces of mitochondrial disease: autosomal recessive disease mimicking myasthenia gravis and progressive supranuclear palsy.
Menatalla Elwan, Andrew M Schaefer, Kate Craig, Sila Hopton, Gavin Falkous

BMJ Neurol Open· December 2022

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POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.
Lionel Van Maldergem, Arnaud Besse, Boel De Paepe, Emma L Blakely, Vivek Appadurai, Kate Craig

Ann Clin Transl Neurol· January 2017

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Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure.
Patrick McKiernan, Sarah Ball, Saikat Santra, Katherine Foster, Carl Fratter, Kate Craig

J Pediatr Gastroenterol Nutr· December 2016

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Ultrasonography in the Assessment of Lateral Ankle Ligament Injury, Instability, and Anterior Ankle Impingement: A Diagnostic Case Report.
Patrick J Battaglia, Kate Craig, Norman W Kettner

J Chiropr Med· December 2015

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Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.
Abdulrahman Al-Hussaini, Eissa Faqeih, Ayman W El-Hattab, Majid Alfadhel, Ali Asery, Kate Craig

J Pediatr· March 2014

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Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
Johanna Uusimaa, Julie Evans, Conrad Smith, Anna Butterworth, Kate Craig

Eur J Hum Genet· February 2014

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Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.
Charlotte L Alston, Andrew M Schaefer, Pravrutha Raman, Nicola Solaroli, Kim J Krishnan, Kate Craig

Neurology· December 2013

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Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.
Emma L Blakely, John W Yarham, Charlotte L Alston, Kate Craig, Joanna Poulton

Hum Mutat· September 2013

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Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
Robert D S Pitceathly, Conrad Smith, Carl Fratter, Charlotte L Alston, Langping He, Kate Craig

Brain· November 2012

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Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?
Saskia B Wortmann, Michael P Champion, Lambert van den Heuvel, H Barth, B Trutnau, Kate Craig

Eur J Med Genet· October 2012

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A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits.
Kate Craig, Matthew J Young, Emma L Blakely, Matthew J Longley, Douglass M Turnbull

Mitochondrion· March 2012

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Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?
Kate Craig, Yoshihisa Takiyama, Bing-Wen Soong, Laura B Jardim, Maria Luiza Saraiva-Pereira

Eur J Hum Genet· July 2008

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Differential selection of acridine resistance mutations in human DNA topoisomerase IIbeta is dependent on the acridine structure.
Chrysoula Leontiou, Gary P Watters, Kathryn L Gilroy, Pauline Heslop, Ian G Cowell, Kate Craig

Mol Pharmacol· April 2007

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The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe.
Kate Craig, Gianfrancesco Ferrari, Watcharee Tiangyou, Gavin Hudson, Cinzia Gellera

Brain· April 2007

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Patterning lines by capillary flows.
Saurabh Vyawahare, Kate M Craig, Axel Scherer

Nano Lett· February 2006

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Minimum prevalence of spinocerebellar ataxia 17 in the north east of England.
Kate Craig, Sharon M Keers, Timothy J Walls, Anne Curtis, Patrick F Chinnery

J Neurol Sci· December 2005

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Molecular epidemiology of spinocerebellar ataxia type 6.
Kate Craig, Sharon M Keers, Kate Archibald, Ann Curtis, Patrick F Chinnery

Ann Neurol· May 2004

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