Gahl WA - Search Results

1

Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients.

Brofferio A, Sachdev V, Hannoush H, Marshall JD, Naggert JK, Sidenko S, Noreuil A, Sirajuddin A, Bryant J, Han JC, Arai AE, Gahl WA, Gunay-Aygun M. Brofferio A, et al. Among authors: gahl wa. Mol Genet Metab. 2017 Aug;121(4):336-343. doi: 10.1016/j.ymgme.2017.05.017. Epub 2017 May 30. Mol Genet Metab. 2017. PMID: 28610912 Free PMC article.

2

CTNS mutations in African American patients with cystinosis.

Kleta R, Anikster Y, Lucero C, Shotelersuk V, Huizing M, Bernardini I, Park M, Thoene J, Schneider J, Gahl WA. Kleta R, et al. Among authors: gahl wa. Mol Genet Metab. 2001 Nov;74(3):332-7. doi: 10.1006/mgme.2001.3218. Mol Genet Metab. 2001. PMID: 11708862

3

3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.

Kleta R, Skovby F, Christensen E, Rosenberg T, Gahl WA, Anikster Y. Kleta R, et al. Among authors: gahl wa. Mol Genet Metab. 2002 Jul;76(3):201-6. doi: 10.1016/s1096-7192(02)00047-1. Mol Genet Metab. 2002. PMID: 12126933

4

Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome.

Gahl WA, Brantly M, Troendle J, Avila NA, Padua A, Montalvo C, Cardona H, Calis KA, Gochuico B. Gahl WA, et al. Mol Genet Metab. 2002 Jul;76(3):234-42. doi: 10.1016/s1096-7192(02)00044-6. Mol Genet Metab. 2002. PMID: 12126938 Clinical Trial.

5

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

6

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.

7

Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome.

Zarzour W, Kleta R, Frangoul H, Suwannarat P, Jeong A, Kim SY, Wayne AS, Gunay-Aygun M, White J, Filipovich AH, Gahl WA. Zarzour W, et al. Among authors: gahl wa. Mol Genet Metab. 2005 Jun;85(2):125-32. doi: 10.1016/j.ymgme.2005.02.011. Epub 2005 Mar 25. Mol Genet Metab. 2005. PMID: 15896657

8

Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy.

Gottlieb E, Ciccone C, Darvish D, Naiem-Cohen S, Dalakas MC, Savelkoul PJ, Krasnewich DM, Gahl WA, Huizing M. Gottlieb E, et al. Among authors: gahl wa. Mol Genet Metab. 2005 Sep-Oct;86(1-2):244-9. doi: 10.1016/j.ymgme.2005.07.003. Mol Genet Metab. 2005. PMID: 16112887

9

Phenotype and course of Hutchinson-Gilford progeria syndrome.

Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO 3rd, Gahl WA, Introne WJ. Merideth MA, et al. Among authors: gahl wa. N Engl J Med. 2008 Feb 7;358(6):592-604. doi: 10.1056/NEJMoa0706898. N Engl J Med. 2008. PMID: 18256394 Free PMC article.

10

A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome.

Westbroek W, Tuchman M, Tinloy B, De Wever O, Vilboux T, Hertz JM, Hasle H, Heilmann C, Helip-Wooley A, Kleta R, Gahl WA. Westbroek W, et al. Among authors: gahl wa. Mol Genet Metab. 2008 Jun;94(2):248-54. doi: 10.1016/j.ymgme.2008.02.009. Epub 2008 Apr 7. Mol Genet Metab. 2008. PMID: 18397837 Free PMC article.

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