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Did you mean kerstin keller[Author] (10 results)?
Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation.
Schaefer PM, Scherer Alves L, Lvova M, Huang J, Rathi K, Janssen K, Butic A, Yardeni T, Morrow R, Lott M, Murdock D, Song A, Keller K, Garcia BA, Francomano CA, Wallace DC. Schaefer PM, et al. Among authors: keller k. 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.
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.
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.