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138 results
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Medical complications in long-term survivors with X-linked myotubular myopathy.
Herman GE, Finegold M, Zhao W, de Gouyon B, Metzenberg A. Herman GE, et al. J Pediatr. 1999 Feb;134(2):206-14. doi: 10.1016/s0022-3476(99)70417-8. J Pediatr. 1999. PMID: 9931531
Genotype-phenotype correlations in X-linked myotubular myopathy.
McEntagart M, Parsons G, Buj-Bello A, Biancalana V, Fenton I, Little M, Krawczak M, Thomas N, Herman G, Clarke A, Wallgren-Pettersson C. McEntagart M, et al. Neuromuscul Disord. 2002 Dec;12(10):939-46. doi: 10.1016/s0960-8966(02)00153-0. Neuromuscul Disord. 2002. PMID: 12467749
X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).
Dahl N, Samson F, Thomas NS, Hu LJ, Gong W, Herman G, Laporte J, Kioschis P, Poustka A, Mandel JL. Dahl N, et al. J Med Genet. 1994 Dec;31(12):922-4. doi: 10.1136/jmg.31.12.922. J Med Genet. 1994. PMID: 7891372 Free PMC article.
X-linked myotubular myopathy: clinical observations in ten additional cases.
Joseph M, Pai GS, Holden KR, Herman G. Joseph M, et al. Am J Med Genet. 1995 Nov 6;59(2):168-73. doi: 10.1002/ajmg.1320590211. Am J Med Genet. 1995. PMID: 8588581
Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy.
de Gouyon BM, Zhao W, Laporte J, Mandel JL, Metzenberg A, Herman GE. de Gouyon BM, et al. Among authors: herman ge. Hum Mol Genet. 1997 Sep;6(9):1499-504. doi: 10.1093/hmg/6.9.1499. Hum Mol Genet. 1997. PMID: 9285787
Comparative mapping on the mouse X chromosome defines a myotubular myopathy equivalent region.
de Gouyon B, Chatterjee A, Monaco A, Quaderi N, Brown SD, Herman GE. de Gouyon B, et al. Among authors: herman ge. Mamm Genome. 1996 Aug;7(8):575-9. doi: 10.1007/s003359900172. Mamm Genome. 1996. PMID: 8678976
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.
Kishnani PS, Nicolino M, Voit T, Rogers RC, Tsai AC, Waterson J, Herman GE, Amalfitano A, Thurberg BL, Richards S, Davison M, Corzo D, Chen YT. Kishnani PS, et al. Among authors: herman ge. J Pediatr. 2006 Jul;149(1):89-97. doi: 10.1016/j.jpeds.2006.02.035. J Pediatr. 2006. PMID: 16860134 Free PMC article. Clinical Trial.
The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase.
Liu XY, Dangel AW, Kelley RI, Zhao W, Denny P, Botcherby M, Cattanach B, Peters J, Hunsicker PR, Mallon AM, Strivens MA, Bate R, Miller W, Rhodes M, Brown SD, Herman GE. Liu XY, et al. Among authors: herman ge. Nat Genet. 1999 Jun;22(2):182-7. doi: 10.1038/9700. Nat Genet. 1999. PMID: 10369263
X-Linked dominant disorders of cholesterol biosynthesis in man and mouse.
Herman GE. Herman GE. Biochim Biophys Acta. 2000 Dec 15;1529(1-3):357-73. doi: 10.1016/s1388-1981(00)00160-8. Biochim Biophys Acta. 2000. PMID: 11111102 Review.
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
Herman GE, Kopacz K, Zhao W, Mills PL, Metzenberg A, Das S. Herman GE, et al. Hum Mutat. 2002 Feb;19(2):114-21. doi: 10.1002/humu.10033. Hum Mutat. 2002. PMID: 11793470
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