Gahl WA - Search Results

1

Hereditary inclusion body myopathy: single patient response to intravenous dosing of GNE gene lipoplex.

Nemunaitis G, Jay CM, Maples PB, Gahl WA, Huizing M, Yardeni T, Tong AW, Phadke AP, Pappen BO, Bedell C, Allen H, Hernandez C, Templeton NS, Kuhn J, Senzer N, Nemunaitis J. Nemunaitis G, et al. Among authors: gahl wa. Hum Gene Ther. 2011 Nov;22(11):1331-41. doi: 10.1089/hum.2010.192. Epub 2011 Apr 25. Hum Gene Ther. 2011. PMID: 21517694 Free PMC article.

2

Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.

Huizing M, Anikster Y, Gahl WA. Huizing M, et al. Among authors: gahl wa. Hum Genet. 2000 Mar;106(3):370-3. doi: 10.1007/s004390051053. Hum Genet. 2000. PMID: 10798370

3

Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33.

Huizing M, Didier A, Walenta J, Anikster Y, Gahl WA, Krämer H. Huizing M, et al. Among authors: gahl wa. Gene. 2001 Feb 21;264(2):241-7. doi: 10.1016/s0378-1119(01)00333-x. Gene. 2001. PMID: 11250079

4

Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.

Huizing M, Gahl WA. Huizing M, et al. Among authors: gahl wa. Curr Mol Med. 2002 Aug;2(5):451-67. doi: 10.2174/1566524023362357. Curr Mol Med. 2002. PMID: 12125811 Review.

5

Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.

Hermos CR, Huizing M, Kaiser-Kupfer MI, Gahl WA. Hermos CR, et al. Among authors: gahl wa. Hum Mutat. 2002 Dec;20(6):482. doi: 10.1002/humu.9097. Hum Mutat. 2002. PMID: 12442288

6

Hermansky-Pudlak syndrome: vesicle formation from yeast to man.

Huizing M, Boissy RE, Gahl WA. Huizing M, et al. Among authors: gahl wa. Pigment Cell Res. 2002 Dec;15(6):405-19. doi: 10.1034/j.1600-0749.2002.02074.x. Pigment Cell Res. 2002. PMID: 12453182 Review.

7

Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.

Anderson PD, Huizing M, Claassen DA, White J, Gahl WA. Anderson PD, et al. Among authors: gahl wa. Hum Genet. 2003 Jul;113(1):10-7. doi: 10.1007/s00439-003-0933-5. Epub 2003 Mar 27. Hum Genet. 2003. PMID: 12664304

8

Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.

Huizing M, Rakocevic G, Sparks SE, Mamali I, Shatunov A, Goldfarb L, Krasnewich D, Gahl WA, Dalakas MC. Huizing M, et al. Among authors: gahl wa. Mol Genet Metab. 2004 Mar;81(3):196-202. doi: 10.1016/j.ymgme.2003.11.012. Mol Genet Metab. 2004. PMID: 14972325

9

Molecular defects that affect platelet dense granules.

Gunay-Aygun M, Huizing M, Gahl WA. Gunay-Aygun M, et al. Among authors: gahl wa. Semin Thromb Hemost. 2004 Oct;30(5):537-47. doi: 10.1055/s-2004-835674. Semin Thromb Hemost. 2004. PMID: 15497096 Free PMC article. Review.

10

Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.

Sparks SE, Ciccone C, Lalor M, Orvisky E, Klootwijk R, Savelkoul PJ, Dalakas MC, Krasnewich DM, Gahl WA, Huizing M. Sparks SE, et al. Among authors: gahl wa. Glycobiology. 2005 Nov;15(11):1102-10. doi: 10.1093/glycob/cwi100. Epub 2005 Jun 29. Glycobiology. 2005. PMID: 15987957

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