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MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

• Authors : Ng, Yi Shiau; Lax, Nichola Z.; Maddison, Paul

Subjects: Heteroplasmy; Lactic acidosis and stroke-like episodes (MELAS); Leigh syndrome (LS)

• Source: Ng , Y S , Lax , N Z , Maddison , P , Alston , C L , Blakely , E L , Hepplewhite , P D , Riordan , G , Meldau , S , Chinnery , P F , Pierre , G , Chronopoulou , E , Du , A , Hughes , I , Morris , A A

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A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

• Source: Solve-RD SNV-indel working group & Solve-RD DITF-ITHACA 2021 , ' A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

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Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China

• Authors : Dai, Pu; Huang, Li-hui; Wang, Guo-jian

• Source: Dai , P , Huang , L , Wang , G , Gao , X , Qu , C , Chen , X , Ma , F , Zhang , J , Xing , W , Xi , S , Ma , B , Pan , Y , Cheng , X , Duan , H , Yuan , Y , Zhao , L , Chang , L , Gao , R , Liu , H ,

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Germline selection shapes human mitochondrial DNA diversity

• Authors : Wei, Wei; Tuna, Salih; Keogh, Michael J.

• Source: NIHR BioResource-Rare Diseases , 100,000 Genomes Project–Rare Diseases Pilot , Wei , W , Tuna , S , Keogh , M J , Smith , K R , Aitman , T J , Beales , P L , Bennett , D L , Gale , D P ,

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Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

• Authors : Wei, Wei; Keogh, Michael J.; Wilson, Ian

• Source: Wei , W , Keogh , M J , Wilson , I , Coxhead , J , Ryan , S , Rollinson , S , Griffin , H , Kurzawa-akanbi , M , Santibanez-koref , M , Talbot , K , Turner , M R , Mckenzie , C , Troakes , C , Attems

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Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation

• Authors : Ng, Yi Shiau; Hardy, Steven A; Shrier, Venice

Subjects: Ataxia/diagnostic imaging; Brain/diagnostic imaging; DNA

• Source: Ng , Y S , Hardy , S A , Shrier , V , Quaghebeur , G , Mole , D R , Daniels , M J , Downes , S M , Freebody , J , Fratter , C , Hofer , M , Nemeth , A H , Poulton , J & Taylor , R W 2016 , ' Clinical

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A complete mitochondrial genome sequence from a mesolithic wild aurochs (Bos primigenius)

• Authors : Edwards, Ceiridwen J.; Magee, David A.; Park, Stephen D E

• Source: Edwards , C J , Magee , D A , Park , S D E , McGettigan , P A , Lohan , A J , Murphy , A , Finlay , E K , Shapiro , B , Chamberlain , A T , Richards , M B , Bradley , D G , Loftus , B J & MacHugh , D

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The tobacco plastid accD gene is essential and is required for leaf development

• Authors : Kode, Vasumathi; Mudd, Elisabeth A.; Iamtham, Siriluck

Subjects: Chloroplast ultrastructure; Essential organelle gene; Evolution

• Source: Kode , V , Mudd , E A , Iamtham , S & Day , A 2005 , ' The tobacco plastid accD gene is essential and is required for leaf development ' , Plant Journal , vol. 44 , no. 2 , pp. 237-244 .

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