Vajsar J - Search Results

1

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.

Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP. Willer T, et al. Among authors: vajsar j. Nat Genet. 2012 May;44(5):575-80. doi: 10.1038/ng.2252. Nat Genet. 2012. PMID: 22522420 Free PMC article.

2

Walker-Warburg syndrome.

Vajsar J, Schachter H. Vajsar J, et al. Orphanet J Rare Dis. 2006 Aug 3;1:29. doi: 10.1186/1750-1172-1-29. Orphanet J Rare Dis. 2006. PMID: 16887026 Free PMC article. Review.

3

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

Jerber J, Zaki MS, Al-Aama JY, Rosti RO, Ben-Omran T, Dikoglu E, Silhavy JL, Caglar C, Musaev D, Albrecht B, Campbell KP, Willer T, Almuriekhi M, Çağlayan AO, Vajsar J, Bilgüvar K, Ogur G, Abou Jamra R, Günel M, Gleeson JG. Jerber J, et al. Among authors: vajsar j. Am J Hum Genet. 2016 Nov 3;99(5):1181-1189. doi: 10.1016/j.ajhg.2016.09.007. Epub 2016 Oct 20. Am J Hum Genet. 2016. PMID: 27773428 Free PMC article.

4

The role of defective glycosylation in congenital muscular dystrophy.

Schachter H, Vajsar J, Zhang W. Schachter H, et al. Among authors: vajsar j. Glycoconj J. 2004;20(5):291-300. doi: 10.1023/B:GLYC.0000033626.65127.e4. Glycoconj J. 2004. PMID: 15229394 Review.

5

Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.

Vajsar J, Baskin B, Swoboda K, Biggar DW, Schachter H, Ray PN. Vajsar J, et al. Neuromuscul Disord. 2008 Aug;18(8):675-7. doi: 10.1016/j.nmd.2008.05.014. Epub 2008 Jul 18. Neuromuscul Disord. 2008. PMID: 18640039

6

Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.

Zhang W, Vajsar J, Cao P, Breningstall G, Diesen C, Dobyns W, Herrmann R, Lehesjoki AE, Steinbrecher A, Talim B, Toda T, Topaloglu H, Voit T, Schachter H. Zhang W, et al. Among authors: vajsar j. Clin Biochem. 2003 Jul;36(5):339-44. doi: 10.1016/s0009-9120(03)00036-5. Clin Biochem. 2003. PMID: 12849864

7

Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts.

Vajsar J, Zhang W, Dobyns WB, Biggar D, Holden KR, Hawkins C, Ray P, Olney AH, Burson CM, Srivastava AK, Schachter H. Vajsar J, et al. Neuromuscul Disord. 2006 Feb;16(2):132-6. doi: 10.1016/j.nmd.2005.11.012. Epub 2006 Jan 19. Neuromuscul Disord. 2006. PMID: 16427280

8

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L, Brown SC, Jimenez-Mallebrera C, Sewry CA, Longman C, Mein R, Abbs S, Vajsar J, Schachter H, Muntoni F. Clement EM, et al. Among authors: vajsar j. Arch Neurol. 2008 Jan;65(1):137-41. doi: 10.1001/archneurol.2007.2. Arch Neurol. 2008. PMID: 18195152

9

Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation.

Al-Zaidy SA, Baskin B, Hawkins C, Yoon G, Ray PN, Vajsar J. Al-Zaidy SA, et al. Among authors: vajsar j. Muscle Nerve. 2012 May;45(5):752-5. doi: 10.1002/mus.23274. Muscle Nerve. 2012. PMID: 22499106

10

Severe classical congenital muscular dystrophy and merosin expression.

Vajsar J, Chitayat D, Becker LE, Ho M, Ben-Zeev B, Jay V. Vajsar J, et al. Clin Genet. 1998 Sep;54(3):193-8. doi: 10.1111/j.1399-0004.1998.tb04283.x. Clin Genet. 1998. PMID: 9788720

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