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USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.
Adato A, Vreugde S, Joensuu T, Avidan N, Hamalainen R, Belenkiy O, Olender T, Bonne-Tamir B, Ben-Asher E, Espinos C, Millán JM, Lehesjoki AE, Flannery JG, Avraham KB, Pietrokovski S, Sankila EM, Beckmann JS, Lancet D. Adato A, et al. Among authors: lehesjoki ae. Eur J Hum Genet. 2002 Jun;10(6):339-50. doi: 10.1038/sj.ejhg.5200831. Eur J Hum Genet. 2002. PMID: 12080385
Mulibrey nanism--a novel peroxisomal disorder.
Kallijärvi J, Lehesjoki AE, Lipsanen-Nyman M. Kallijärvi J, et al. Among authors: lehesjoki ae. Adv Exp Med Biol. 2003;544:31-7. doi: 10.1007/978-1-4419-9072-3_3. Adv Exp Med Biol. 2003. PMID: 14713209 Review. No abstract available.
Novel mutations in the TRIM37 gene in Mulibrey Nanism.
Hämäläinen RH, Avela K, Lambert JA, Kallijärvi J, Eyaid W, Gronau J, Ignaszewski AP, McFadden D, Sorge G, Lipsanen-Nyman M, Lehesjoki AE. Hämäläinen RH, et al. Among authors: lehesjoki ae. Hum Mutat. 2004 May;23(5):522. doi: 10.1002/humu.9233. Hum Mutat. 2004. PMID: 15108285
Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study.
Hermansson M, Käkelä R, Berghäll M, Lehesjoki AE, Somerharju P, Lahtinen U. Hermansson M, et al. Among authors: lehesjoki ae. J Neurochem. 2005 Nov;95(3):609-17. doi: 10.1111/j.1471-4159.2005.03376.x. Epub 2005 Aug 8. J Neurochem. 2005. PMID: 16086686 Free article.
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
Anttonen AK, Mahjneh I, Hämäläinen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE. Anttonen AK, et al. Among authors: lehesjoki ae. Nat Genet. 2005 Dec;37(12):1309-11. doi: 10.1038/ng1677. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282978
247 results