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kerstin keller[Author]
(10 results)?
Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation.
Proc Natl Acad Sci U S A. 2022 Nov 8;119(45):e2212417119. doi: 10.1073/pnas.2212417119. Epub 2022 Nov 2.
Proc Natl Acad Sci U S A. 2022.
PMID: 36322731
Free PMC article.
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.
McCormick EM, Keller K, Taylor JP, Coffey AJ, Shen L, Krotoski D, Harding B; NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Panel; Gai X, Falk MJ, Zolkipli-Cunningham Z, Rahman S.
McCormick EM, et al. Among authors: keller k.
Ann Neurol. 2023 Oct;94(4):696-712. doi: 10.1002/ana.26716. Epub 2023 Aug 12.
Ann Neurol. 2023.
PMID: 37255483
Free article.
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Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
Alsharhan H, Ng BG, Daniel EJP, Friedman J, Pivnick EK, Al-Hashem A, Faqeih EA, Liu P, Engelhardt NM, Keller KN, Chen J, Mazzeo PA; University of Washington Center for Mendelian Genomics (UW-CMG); Rosenfeld JA, Bamshad MJ, Nickerson DA, Raymond KM, Freeze HH, He M, Edmondson AC, Lam C.
Alsharhan H, et al. Among authors: keller kn.
J Inherit Metab Dis. 2021 Jul;44(4):987-1000. doi: 10.1002/jimd.12367. Epub 2021 Mar 1.
J Inherit Metab Dis. 2021.
PMID: 33583022
Free PMC article.
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Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.
Ortiz-González XR, Tintos-Hernández JA, Keller K, Li X, Foley AR, Bharucha-Goebel DX, Kessler SK, Yum SW, Crino PB, He M, Wallace DC, Bönnemann CG.
Ortiz-González XR, et al. Among authors: keller k.
Ann Neurol. 2018 Jan;83(1):153-165. doi: 10.1002/ana.25130.
Ann Neurol. 2018.
PMID: 29283439
Free PMC article.
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Lysosomal dysfunction impairs mitochondrial quality control and is associated with neurodegeneration in TBCK encephaloneuronopathy.
Tintos-Hernández JA, Santana A, Keller KN, Ortiz-González XR.
Tintos-Hernández JA, et al. Among authors: keller kn.
Brain Commun. 2021 Sep 16;3(4):fcab215. doi: 10.1093/braincomms/fcab215. eCollection 2021.
Brain Commun. 2021.
PMID: 34816123
Free PMC article.
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Early presentation of adult-onset conditions: A dual diagnosis of hereditary hemochromatosis and porphyria cutanea tarda.
Strong A, Keller K, Merves J.
Strong A, et al. Among authors: keller k.
Mol Genet Metab Rep. 2020 Aug 15;25:100638. doi: 10.1016/j.ymgmr.2020.100638. eCollection 2020 Dec.
Mol Genet Metab Rep. 2020.
PMID: 32874917
Free PMC article.
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