Grewal PK - Search Results

1

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.

van Reeuwijk J, Grewal PK, Salih MA, Beltrán-Valero de Bernabé D, McLaughlan JM, Michielse CB, Herrmann R, Hewitt JE, Steinbrecher A, Seidahmed MZ, Shaheed MM, Abomelha A, Brunner HG, van Bokhoven H, Voit T. van Reeuwijk J, et al. Among authors: grewal pk. Hum Genet. 2007 Jul;121(6):685-90. doi: 10.1007/s00439-007-0362-y. Epub 2007 Apr 14. Hum Genet. 2007. PMID: 17436019 Free PMC article.

2

Glycosylation defects: a new mechanism for muscular dystrophy?

Grewal PK, Hewitt JE. Grewal PK, et al. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R259-64. doi: 10.1093/hmg/ddg272. Epub 2003 Aug 12. Hum Mol Genet. 2003. PMID: 12925572 Review.

3

Mutation of Large, which encodes a putative glycosyltransferase, in an animal model of muscular dystrophy.

Grewal PK, Hewitt JE. Grewal PK, et al. Biochim Biophys Acta. 2002 Dec 19;1573(3):216-24. doi: 10.1016/s0304-4165(02)00387-2. Biochim Biophys Acta. 2002. PMID: 12417403 Review.

4

Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35.

van Deutekom JC, Lemmers RJ, Grewal PK, van Geel M, Romberg S, Dauwerse HG, Wright TJ, Padberg GW, Hofker MH, Hewitt JE, Frants RR. van Deutekom JC, et al. Among authors: grewal pk. Hum Mol Genet. 1996 May;5(5):581-90. doi: 10.1093/hmg/5.5.581. Hum Mol Genet. 1996. PMID: 8733123

5

Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse.

Grewal PK, Holzfeind PJ, Bittner RE, Hewitt JE. Grewal PK, et al. Nat Genet. 2001 Jun;28(2):151-4. doi: 10.1038/88865. Nat Genet. 2001. PMID: 11381262

6

Glycosylation defects in inherited muscle disease.

Hewitt JE, Grewal PK. Hewitt JE, et al. Among authors: grewal pk. Cell Mol Life Sci. 2003 Feb;60(2):251-8. doi: 10.1007/s000180300020. Cell Mol Life Sci. 2003. PMID: 12678490 Review.

7

Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies.

Grewal PK, McLaughlan JM, Moore CJ, Browning CA, Hewitt JE. Grewal PK, et al. Glycobiology. 2005 Oct;15(10):912-23. doi: 10.1093/glycob/cwi094. Epub 2005 Jun 15. Glycobiology. 2005. PMID: 15958417

8

Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylation-deficient muscle - eye - brain disorders.

Holzfeind PJ, Grewal PK, Reitsamer HA, Kechvar J, Lassmann H, Hoeger H, Hewitt JE, Bittner RE. Holzfeind PJ, et al. Among authors: grewal pk. Hum Mol Genet. 2002 Oct 1;11(21):2673-87. doi: 10.1093/hmg/11.21.2673. Hum Mol Genet. 2002. PMID: 12354792

9

A rapid PCR method for genotyping the Large(myd) mouse, a model of glycosylation-deficient congenital muscular dystrophy.

Browning CA, Grewal PK, Moore CJ, Hewitt JE. Browning CA, et al. Among authors: grewal pk. Neuromuscul Disord. 2005 May;15(5):331-5. doi: 10.1016/j.nmd.2005.01.003. Neuromuscul Disord. 2005. PMID: 15833424

10

Fath, the murine homolog of the Drosophila fat tumor suppressor gene, maps to chromosome 8.

Grewal PK, Hewitt JE. Grewal PK, et al. Mamm Genome. 1997 May;8(5):383-4. doi: 10.1007/s003359900450. Mamm Genome. 1997. PMID: 9107695 No abstract available.

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