Gahl WA - Search Results

1

Neurologic involvement in patients with atypical Chediak-Higashi disease.

Introne WJ, Westbroek W, Cullinane AR, Groden CA, Bhambhani V, Golas GA, Baker EH, Lehky TJ, Snow J, Ziegler SG, Adams DR, Dorward HM, Hess RA, Huizing M, Gahl WA, Toro C. Introne WJ, et al. Among authors: gahl wa. Neurology. 2016 Apr 5;86(14):1320-1328. doi: 10.1212/WNL.0000000000002551. Epub 2016 Mar 4. Neurology. 2016. PMID: 26944273 Free PMC article. Corrected and republished.

2

Neurologic complications in long-standing nephropathic cystinosis.

Fink JK, Brouwers P, Barton N, Malekzadeh MH, Sato S, Hill S, Cohen WE, Fivush B, Gahl WA. Fink JK, et al. Among authors: gahl wa. Arch Neurol. 1989 May;46(5):543-8. doi: 10.1001/archneur.1989.00520410077027. Arch Neurol. 1989. PMID: 2712751

3

Distal vacuolar myopathy in nephropathic cystinosis.

Charnas LR, Luciano CA, Dalakas M, Gilliatt RW, Bernardini I, Ishak K, Cwik VA, Fraker D, Brushart TA, Gahl WA. Charnas LR, et al. Among authors: gahl wa. Ann Neurol. 1994 Feb;35(2):181-8. doi: 10.1002/ana.410350209. Ann Neurol. 1994. PMID: 8109899

4

Early copper therapy in classic Menkes disease patients with a novel splicing mutation.

Kaler SG, Buist NR, Holmes CS, Goldstein DS, Miller RC, Gahl WA. Kaler SG, et al. Among authors: gahl wa. Ann Neurol. 1995 Dec;38(6):921-8. doi: 10.1002/ana.410380613. Ann Neurol. 1995. PMID: 8526465

5

Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome.

Introne W, Boissy RE, Gahl WA. Introne W, et al. Among authors: gahl wa. Mol Genet Metab. 1999 Oct;68(2):283-303. doi: 10.1006/mgme.1999.2927. Mol Genet Metab. 1999. PMID: 10527680 Review.

6

Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1.

Brantly M, Avila NA, Shotelersuk V, Lucero C, Huizing M, Gahl WA. Brantly M, et al. Among authors: gahl wa. Chest. 2000 Jan;117(1):129-36. doi: 10.1378/chest.117.1.129. Chest. 2000. PMID: 10631210

7

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

8

Hermansky-Pudlak syndrome and related disorders of organelle formation.

Huizing M, Anikster Y, Gahl WA. Huizing M, et al. Among authors: gahl wa. Traffic. 2000 Nov;1(11):823-35. doi: 10.1034/j.1600-0854.2000.011103.x. Traffic. 2000. PMID: 11208073 Free article. Review.

9

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

10

AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes.

Huizing M, Sarangarajan R, Strovel E, Zhao Y, Gahl WA, Boissy RE. Huizing M, et al. Among authors: gahl wa. Mol Biol Cell. 2001 Jul;12(7):2075-85. doi: 10.1091/mbc.12.7.2075. Mol Biol Cell. 2001. PMID: 11452004 Free PMC article.

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