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Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy
- Nimmo, GAM (author)
- Venkatesh, S (author)
- Pandey, AK (author)
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- Marshall, CR (author)
- Hazrati, LN (author)
- Blaser, S (author)
- Ahmed, S (author)
- Cameron, J (author)
- Singh, K (author)
- Ray, PN (author)
- Suzuki, CK (author)
- Yoon, G (author)
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- 2018-10-09
- 2019
- English.
- In: Human molecular genetics. - : Oxford University Press (OUP). - 1460-2083 .- 0964-6906. ; 28:2, s. 290-306
- Journal article (peer-reviewed)
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- Nimmo, GAM
- Venkatesh, S
- Pandey, AK
- Marshall, CR
- Hazrati, LN
- Blaser, S
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- Ahmed, S
- Cameron, J
- Singh, K
- Ray, PN
- Suzuki, CK
- Yoon, G
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- Karolinska Institutet
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