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Identification of Nuclear Genetic Loci Linked to Clinical Features of the m.3243A>G Mitochondrial DNA Variant

Lookup NU author(s): Dr Roisin Boggan, Dr Dafni MichalettouORCiD, Dr Yi Ng, Dr Imogen FranklinORCiD, Lucas Cortes, Dr Charlotte Alston, Catherine Feeney, Professor Michael Hanna, Dr Andrew Schaefer, Dr Rhys ThomasORCiD, Emeritus Professor Doug Turnbull, Professor Bobby McFarlandORCiD, Professor Robert TaylorORCiD, Professor Heather CordellORCiD, Dr Sarah PickettORCiD

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Author(s): Boggan RM, Michalettou D, Ng YS, Franklin IG, Cortés LT, Alston CL, Blakely EL, Büchner B, Bugiardini E, Colclough K, Feeney C, Hanna MG, Hattersley AT, Klopstock T, Kornblum C, Mancuso M, Patel KA, Pitceathly RDS, Pizzamiglio C, Prokisch H, Schäfer J, Schaefer AM, Shepherd MH, Thaele A, Thomas RH, Turnbull DM, Woodward CE, McFarland R, Taylor RW, Cordell HJ, Pickett SJ

Publication type: Article

Publication status: Published

Journal: Neurology Genetics

Year: 2026

Volume: 12

Issue: 4

Online publication date: 09/06/2026

Acceptance date: 09/06/2026

Date deposited: 08/09/2026

ISSN (print): 2376-7839

ISSN (electronic): 2376-7839

Publisher: American Academy of Neurology

URL: https://doi.org/10.1212/NXG.0000000000200411

DOI: 10.1212/NXG.0000000000200411

Data Access Statement: Supplementary materials are included with the article.

PubMed id: PMID: 42639396

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