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Source:
Newman , W , Shalev , S , Auburger , G , Prokisch , H , Wittig , I & West , P 2021 , ' Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting
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Subjects: MtDNA; Mutation load; ND5
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Source:
Petschner , P , Gonda , X , Baksa , D , Eszlari , N , Trivaks , M , Juhasz , G & Bagdy , G 2017 , ' Genes linking mitochondrial function, cognitive impairment and depression are associated with
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Subjects: mutation spectrum; Mitochondria
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Source:
Denisov , S 2022 , ' A mitochondria-specific mutational signature of aging: increased rate of A > G substitutions on the heavy strand ' , Nucleic acids research , vol. 50 , pp. 10264–10277 .
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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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Subjects: ATPases Associated with Diverse Cellular Activities/genetics; Child; Preschool
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Source:
Lepelley , A , Mina , E D , Nieuwenhove , E V , Waumans , L , Fraitag , S , Rice , G I , Dhir , A , Frémond , M-L , Rodero , M P , Seabra , L , Carter , E , Bodemer , C , Buhas , D , Callewaert , B ,
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Source:
Hewitt , S K , Duangrattanalert , K , Burgis , T , Zeef , L A H , Naseeb , S & Delneri , D 2020 , ' Plasticity of Mitochondrial DNA Inheritance and its Impact on Nuclear Gene Transcription in Yeast
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Source:
Drosou , K , Collin , T C , Freeman , P J , Loynes , R & Freemont , T 2020 , ' The first reported case of the rare mitochondrial haplotype H4a1 in ancient Egypt ' , Scientific Reports , vol. 10 , no.
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Source:
Lilleker , J 2020 , ' Novel MT-ND gene variants causing adult-onset mitochondrial disease and isolated Complex I deficiency ' , Frontiers in Genetics . https://doi.org/10.3389/fgene.2020.00024
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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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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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