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Page 1
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Dürr A, Stevanin G, Biesecker LG; NIH Intramural Sequencing Center; Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W Jr, Züchner S, Blackstone C, Fischbeck KH, Burnett BG. Landouré G, et al. Among authors: gahl wa. Hum Mutat. 2013 Oct;34(10):1357-60. doi: 10.1002/humu.22378. Epub 2013 Aug 12. Hum Mutat. 2013. PMID: 23857908 Free PMC article.
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
CTNS mutations in patients with cystinosis.
Anikster Y, Shotelersuk V, Gahl WA. Anikster Y, et al. Among authors: gahl wa. Hum Mutat. 1999;14(6):454-8. doi: 10.1002/(SICI)1098-1004(199912)14:6<454::AID-HUMU2>3.0.CO;2-H. Hum Mutat. 1999. PMID: 10571941 Review.
Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.
Vilboux T, Kayser M, Introne W, Suwannarat P, Bernardini I, Fischer R, O'Brien K, Kleta R, Huizing M, Gahl WA. Vilboux T, et al. Among authors: gahl wa. Hum Mutat. 2009 Dec;30(12):1611-9. doi: 10.1002/humu.21120. Hum Mutat. 2009. PMID: 19862842 Free PMC article.
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.
Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C. Pierson TM, et al. Among authors: gahl wa. PLoS Genet. 2011 Oct;7(10):e1002325. doi: 10.1371/journal.pgen.1002325. Epub 2011 Oct 13. PLoS Genet. 2011. PMID: 22022284 Free PMC article.
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.
Pierson TM, Simeonov DR, Sincan M, Adams DA, Markello T, Golas G, Fuentes-Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Mullikin JC, Blackstone C, Tifft C, Boerkoel CF, Gahl WA; NISC Comparative Sequencing Program. Pierson TM, et al. Among authors: gahl wa. Eur J Hum Genet. 2012 Apr;20(4):476-9. doi: 10.1038/ejhg.2011.222. Epub 2011 Dec 7. Eur J Hum Genet. 2012. PMID: 22146942 Free PMC article.
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.
Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, Wolfe L, Groden C, Godfrey R, Nehrebecky M, Wahl C, Landis DM, Yang S, Madeo A, Mullikin JC, Boerkoel CF, Tifft CJ, Adams D. Gahl WA, et al. Genet Med. 2012 Jan;14(1):51-9. doi: 10.1038/gim.0b013e318232a005. Epub 2011 Sep 26. Genet Med. 2012. PMID: 22237431 Free PMC article.
695 results