Mendell J - Search Results

1

Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology.

Cottrell CE, Mendell J, Hart-Kothari M, Ell D, Thrush DL, Astbury C, Pastore M, Gastier-Foster JM, Pyatt RE. Cottrell CE, et al. Among authors: mendell j. Clin Genet. 2012 Jun;81(6):578-83. doi: 10.1111/j.1399-0004.2011.01681.x. Epub 2011 May 4. Clin Genet. 2012. PMID: 21480868

2

Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review.

Gatheridge MA, Kwon JM, Mendell JM, Scheuerbrandt G, Moat SJ, Eyskens F, Rockman-Greenberg C, Drousiotou A, Griggs RC. Gatheridge MA, et al. Among authors: mendell jm. JAMA Neurol. 2016 Jan;73(1):111-6. doi: 10.1001/jamaneurol.2015.3537. JAMA Neurol. 2016. PMID: 26594870 Review.

3

Immunological identification of a high molecular weight protein as a candidate for the product of the Duchenne muscular dystrophy gene.

Kao L, Krstenansky J, Mendell J, Rammohan KW, Gruenstein E. Kao L, et al. Among authors: mendell j. Proc Natl Acad Sci U S A. 1988 Jun;85(12):4491-5. doi: 10.1073/pnas.85.12.4491. Proc Natl Acad Sci U S A. 1988. PMID: 3288996 Free PMC article.

4

Biochemical and structural insights into a 5' to 3' RNA ligase reveal a potential role in tRNA ligation.

Hu Y, Lopez VA, Xu H, Pfister JP, Song B, Servage KA, Sakurai M, Jones BT, Mendell JT, Wang T, Wu J, Lambowitz AM, Tomchick DR, Pawłowski K, Tagliabracci VS. Hu Y, et al. Among authors: mendell jt. Proc Natl Acad Sci U S A. 2024 Oct 15;121(42):e2408249121. doi: 10.1073/pnas.2408249121. Epub 2024 Oct 10. Proc Natl Acad Sci U S A. 2024. PMID: 39388274 Free PMC article.

5

AAV gene therapy for Duchenne muscular dystrophy: the EMBARK phase 3 randomized trial.

Mendell JR, Muntoni F, McDonald CM, Mercuri EM, Ciafaloni E, Komaki H, Leon-Astudillo C, Nascimento A, Proud C, Schara-Schmidt U, Veerapandiyan A, Zaidman CM, Guridi M, Murphy AP, Reid C, Wandel C, Asher DR, Darton E, Mason S, Potter RA, Singh T, Zhang W, Fontoura P, Elkins JS, Rodino-Klapac LR. Mendell JR, et al. Nat Med. 2024 Oct 9. doi: 10.1038/s41591-024-03304-z. Online ahead of print. Nat Med. 2024. PMID: 39385046

6

Population pharmacokinetic analyses of pozelimab in patients with CD55-deficient protein-losing enteropathy (CHAPLE disease).

Lin KJ, Mendell J, Davis JD, Harnisch LO. Lin KJ, et al. Among authors: mendell j. J Pharmacokinet Pharmacodyn. 2024 Sep 30. doi: 10.1007/s10928-024-09941-8. Online ahead of print. J Pharmacokinet Pharmacodyn. 2024. PMID: 39349796

7

An ultraconserved snoRNA-like element in long noncoding RNA CRNDE promotes ribosome biogenesis and cell proliferation.

Lee JS, Dan T, Zhang H, Cheng Y, Rehfeld F, Brugarolas J, Mendell JT. Lee JS, et al. Among authors: mendell jt. bioRxiv [Preprint]. 2024 Jul 24:2024.07.23.604857. doi: 10.1101/2024.07.23.604857. bioRxiv. 2024. PMID: 39091767 Free PMC article. Preprint.

8

A non-canonical role for a small nucleolar RNA in ribosome biogenesis and senescence.

Cheng Y, Wang S, Zhang H, Lee JS, Ni C, Guo J, Chen E, Wang S, Acharya A, Chang TC, Buszczak M, Zhu H, Mendell JT. Cheng Y, et al. Among authors: mendell jt. Cell. 2024 Aug 22;187(17):4770-4789.e23. doi: 10.1016/j.cell.2024.06.019. Epub 2024 Jul 8. Cell. 2024. PMID: 38981482 Free article.

9

Evinacumab: Mechanism of action, clinical, and translational science.

Dingman R, Bihorel S, Gusarova V, Mendell J, Pordy R. Dingman R, et al. Among authors: mendell j. Clin Transl Sci. 2024 Jun;17(6):e13836. doi: 10.1111/cts.13836. Clin Transl Sci. 2024. PMID: 38845393 Free PMC article. Review.

10

Validity of remote live stream video evaluation of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy.

P Lowes L, Alfano LN, Iammarino MA, Reash NF, Giblin K, Hu L, Yu L, Wang S, Salazar R, Mendell JR. P Lowes L, et al. Among authors: mendell jr. PLoS One. 2024 May 16;19(5):e0300700. doi: 10.1371/journal.pone.0300700. eCollection 2024. PLoS One. 2024. PMID: 38753764 Free PMC article. Clinical Trial.

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