Vera MU - Search Results

1

IRF2BPL Is Associated with Neurological Phenotypes.

Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. Marcogliese PC, et al. Among authors: vera mu. Am J Hum Genet. 2018 Aug 2;103(2):245-260. doi: 10.1016/j.ajhg.2018.07.006. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057031 Free PMC article.

2

Specific antibody titer alters the effectiveness of intrathecal enzyme replacement therapy in canine mucopolysaccharidosis I.

Dickson PI, Ellinwood NM, Brown JR, Witt RG, Le SQ, Passage MB, Vera MU, Crawford BE. Dickson PI, et al. Among authors: vera mu. Mol Genet Metab. 2012 May;106(1):68-72. doi: 10.1016/j.ymgme.2012.02.003. Epub 2012 Feb 8. Mol Genet Metab. 2012. PMID: 22402327 Free PMC article.

3

Mannose 6-phosphate conjugation is not sufficient to allow induction of immune tolerance to phenylalanine ammonia-lyase in dogs.

Vera M, Lester T, Zhao B, Tiger P, Clarke S, Tippin BL, Passage MB, Le SQ, Femenia J, Lemontt JF, Kakkis ED, Dickson PI. Vera M, et al. JIMD Rep. 2013;8:63-72. doi: 10.1007/8904_2012_162. Epub 2012 Jul 6. JIMD Rep. 2013. PMID: 23430522 Free PMC article.

4

Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients.

Vera M, Le S, Kan SH, Garban H, Naylor D, Mlikotic A, Kaitila I, Harmatz P, Chen A, Dickson P. Vera M, et al. Pediatr Res. 2013 Dec;74(6):712-20. doi: 10.1038/pr.2013.158. Epub 2013 Sep 3. Pediatr Res. 2013. PMID: 24002329 Free PMC article.

5

Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I.

Khalid O, Vera MU, Gordts PL, Ellinwood NM, Schwartz PH, Dickson PI, Esko JD, Wang RY. Khalid O, et al. Among authors: vera mu. PLoS One. 2016 Mar 17;11(3):e0150850. doi: 10.1371/journal.pone.0150850. eCollection 2016. PLoS One. 2016. PMID: 26986213 Free PMC article.

6

A Humoral Immune Response Alters the Distribution of Enzyme Replacement Therapy in Murine Mucopolysaccharidosis Type I.

Le SQ, Kan SH, Clarke D, Sanghez V, Egeland M, Vondrak KN, Doherty TM, Vera MU, Iacovino M, Cooper JD, Sands MS, Dickson PI. Le SQ, et al. Among authors: vera mu. Mol Ther Methods Clin Dev. 2017 Oct 5;8:42-51. doi: 10.1016/j.omtm.2017.09.008. eCollection 2018 Mar 16. Mol Ther Methods Clin Dev. 2017. PMID: 29159202 Free PMC article.

7

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.

Tran Mau-Them F, Guibaud L, Duplomb L, Keren B, Lindstrom K, Marey I, Mochel F, van den Boogaard MJ, Oegema R, Nava C, Masurel A, Jouan T, Jansen FE, Au M, Chen AH, Cho M, Duffourd Y, Lozier E, Konovalov F, Sharkov A, Korostelev S, Urteaga B, Dickson P, Vera M, Martínez-Agosto JA, Begemann A, Zweier M, Schmitt-Mechelke T, Rauch A, Philippe C, van Gassen K, Nelson S, Graham JM Jr, Friedman J, Faivre L, Lin HJ, Thauvin-Robinet C, Vitobello A. Tran Mau-Them F, et al. Genet Med. 2019 Apr;21(4):1008-1014. doi: 10.1038/s41436-018-0143-0. Epub 2018 Aug 31. Genet Med. 2019. PMID: 30166628 Free article.

8

IRF2BPL Is Associated with Neurological Phenotypes.

Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. Marcogliese PC, et al. Among authors: vera mu. Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.010. Am J Hum Genet. 2018. PMID: 30193138 Free PMC article. No abstract available.

9

Evaluation of non-reducing end pathologic glycosaminoglycan detection method for monitoring therapeutic response to enzyme replacement therapy in human mucopolysaccharidosis I.

Vera MU, Le SQ, Victoroff A, Passage MB, Brown JR, Crawford BE, Polgreen LE, Chen AH, Dickson PI. Vera MU, et al. Mol Genet Metab. 2020 Feb;129(2):91-97. doi: 10.1016/j.ymgme.2019.09.001. Epub 2019 Sep 11. Mol Genet Metab. 2020. PMID: 31630958 Free PMC article.

10

Combining angiotensin receptor blockade and enzyme replacement therapy for vascular disease in mucopolysaccharidosis type I.

Hurt SC, Vera MU, Le SQ, Kan SH, Bui Q, Dickson PI. Hurt SC, et al. Among authors: vera mu. Mol Genet Metab Rep. 2023 Dec 14;38:101036. doi: 10.1016/j.ymgmr.2023.101036. eCollection 2024 Mar. Mol Genet Metab Rep. 2023. PMID: 38173710 Free PMC article.

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