Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)

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Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)

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scientific article published on 01 August 2018

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wetenschappelijk artikel

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наукова стаття, опублікована в серпні 2018

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Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)

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Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23

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Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)

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Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23

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Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)

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Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23

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Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)

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Arjan P M de Brouwer

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Dmitriy Niyazov

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Keith W Caldecott

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Kyle Thompson

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Langping He

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Robert W Taylor

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Sarah Walker

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P2860

Instability and decay of the primary structure of DNA

TDP2/TTRAP is the major 5'-tyrosyl DNA phosphodiesterase activity in vertebrate cells and is critical for cellular resistance to topoisomerase II-induced DNA damage

A human 5'-tyrosyl DNA phosphodiesterase that repairs topoisomerase-mediated DNA damage

TDP2-dependent non-homologous end-joining protects against topoisomerase II-induced DNA breaks and genome instability in cells and in vivo

Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

DNA double-stranded breaks induce histone H2AX phosphorylation on serine 139

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.

REXO2 is an oligoribonuclease active in human mitochondria.

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e262

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scholarly article

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10.1212/NXG.0000000000000262

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English

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Francesco Bruni

Guido Zagnoli-Vieira

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2018-08-01T00:00:00Z

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30109272

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6089694

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