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Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A, Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Expósito-Escudero J, Yubero D, Martorell L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez C, Palau F, Ghosh PS, Darras BT, Jou C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB, Natera-de Benito D. Nascimento A, et al. Among authors: kang pb. Acta Neuropathol. 2023 Apr;145(4):479-496. doi: 10.1007/s00401-023-02551-7. Epub 2023 Feb 17. Acta Neuropathol. 2023. PMID: 36799992 Free PMC article.
Transcriptional profile of postmortem skeletal muscle.
Sanoudou D, Kang PB, Haslett JN, Han M, Kunkel LM, Beggs AH. Sanoudou D, et al. Among authors: kang pb. Physiol Genomics. 2004 Jan 15;16(2):222-8. doi: 10.1152/physiolgenomics.00137.2003. Physiol Genomics. 2004. PMID: 14625377
Distinctive patterns of microRNA expression in primary muscular disorders.
Eisenberg I, Eran A, Nishino I, Moggio M, Lamperti C, Amato AA, Lidov HG, Kang PB, North KN, Mitrani-Rosenbaum S, Flanigan KM, Neely LA, Whitney D, Beggs AH, Kohane IS, Kunkel LM. Eisenberg I, et al. Among authors: kang pb. Proc Natl Acad Sci U S A. 2007 Oct 23;104(43):17016-21. doi: 10.1073/pnas.0708115104. Epub 2007 Oct 17. Proc Natl Acad Sci U S A. 2007. PMID: 17942673 Free PMC article.
141 results