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Inclusion body myositis: from genetics to clinical trials
Inclusion body myositis: from genetics to clinical trials
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Inclusion body myositis: from genetics to clinical trials

Nagy, Sara ; Khan, Alaa ; Machado, Pedro M. ; Houlden, Henry

Journal of neurology, 2023-03, Vol.270 (3), p.1787-1797 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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Variant pathogenic prediction by locus variability: the importance of the current picture of evolution
Variant pathogenic prediction by locus variability: the importance of the current picture of evolution
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Variant pathogenic prediction by locus variability: the importance of the current picture of evolution

Cabrera-Alarcon, José Luis ; Martinez, Jorge García ; Enríquez, José Antonio ; Sánchez-Cabo, Fátima

European journal of human genetics : EJHG, 2022-05, Vol.30 (5), p.555-559 [Periódico revisado por pares]

England: Nature Publishing Group

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The proteasome activator PA200 regulates expression of genes involved in cell survival upon selective mitochondrial inhibition in neuroblastoma cells
The proteasome activator PA200 regulates expression of genes involved in cell survival upon selective mitochondrial inhibition in neuroblastoma cells
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The proteasome activator PA200 regulates expression of genes involved in cell survival upon selective mitochondrial inhibition in neuroblastoma cells

Douida, Abdennour ; Batista, Frank ; Robaszkiewicz, Agnieszka ; Boto, Pal ; Aladdin, Azzam ; Szenykiv, Mónika ; Czinege, Rita ; Virág, László ; Tar, Krisztina

Journal of cellular and molecular medicine, 2020-06, Vol.24 (12), p.6716-6730 [Periódico revisado por pares]

England: John Wiley & Sons, Inc

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4
Association of Common Genetic Variants in the CPSF7 and SDHAF2 Genes with Canine Idiopathic Pulmonary Fibrosis in the West Highland White Terrier
Association of Common Genetic Variants in the CPSF7 and SDHAF2 Genes with Canine Idiopathic Pulmonary Fibrosis in the West Highland White Terrier
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Association of Common Genetic Variants in the CPSF7 and SDHAF2 Genes with Canine Idiopathic Pulmonary Fibrosis in the West Highland White Terrier

Piras, Ignazio S ; Bleul, Christiane ; Siniard, Ashley ; Wolfe, Amanda J ; De Both, Matthew D ; Hernandez, Alvaro G ; Huentelman, Matthew J

Genes, 2020-05, Vol.11 (6), p.609 [Periódico revisado por pares]

Switzerland: MDPI AG

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Evidence for a novel overlapping coding sequence in POLG initiated at a CUG start codon
Evidence for a novel overlapping coding sequence in POLG initiated at a CUG start codon
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Evidence for a novel overlapping coding sequence in POLG initiated at a CUG start codon

Khan, Yousuf A ; Jungreis, Irwin ; Wright, James C ; Mudge, Jonathan M ; Choudhary, Jyoti S ; Firth, Andrew E ; Kellis, Manolis

BMC genetics, 2020-03, Vol.21 (1), p.25-25, Article 25

England: BioMed Central Ltd

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The reference human nuclear mitochondrial sequences compilation validated and implemented on the UCSC genome browser
The reference human nuclear mitochondrial sequences compilation validated and implemented on the UCSC genome browser
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The reference human nuclear mitochondrial sequences compilation validated and implemented on the UCSC genome browser

Simone, Domenico ; Calabrese, Francesco Maria ; Lang, Martin ; Gasparre, Giuseppe ; Attimonelli, Marcella

BMC genomics, 2011-10, Vol.12 (1), p.517-517, Article 517 [Periódico revisado por pares]

England: BioMed Central Ltd

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7
Liver transplantation in mitochondrial respiratory chain disorders
Liver transplantation in mitochondrial respiratory chain disorders
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Liver transplantation in mitochondrial respiratory chain disorders

Sokal, E M ; Sokol, R ; Cormier, V ; Lacaille, F ; McKiernan, P ; Van Spronsen, F J ; Bernard, O ; Saudubray, J M

European journal of pediatrics, 1999-12, Vol.158 Suppl 2 (S2), p.S81-S084 [Periódico revisado por pares]

Germany: Springer Nature B.V

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