| 1 | SNELS, SURF1
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| Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.
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| Ribeiro C, do Carmo Macário M, Viegas AT, Pratas J, Santos MJ, Simões M, Mendes C, Bacalhau M, Garcia P, Diogo L, Grazina M.
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| Mitochondrion 31:84-88. doi: 10.1016/j.mito.2016.10.004.
2016
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| 2 | SNELS, SURF1
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| Mitochondrial oxidative phosphorylation disorders in children: Phenotypic, genotypic and biochemical correlations in 85 patients from South India.
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| Sonam K, Bindu PS, Bharath MS, Govindaraj P, Gayathri N, Arvinda HR, Chiplunkar S, Nagappa M, Sinha S, Khan NA, Nunia V, Paramasivam A, Thangaraj K, Taly AB.
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| Mitochondrion itochondrion. 2016 Nov 5. pii: S1567-7249(16)30112-X. doi: 10.1016/j.mito.2016.11.002. [Epub ahead of print]
2016
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| 3 | SNELS, SURF1
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| SURF1-associated Leigh syndrome: a case series and novel mutations.
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| Lee IC, El-Hattab AW, Wang J, Li FY, Weng SW, Craigen WJ, Wong LJ.
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| Hum Mutat 33(8):1192-200. doi: 10.1002/humu.22095.
2012
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| 4 | SNELS, SURF1
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| Analysis of Leigh syndrome mutations in the yeast SURF1 homolog reveals a new member of the cytochrome oxidase assembly factor family.
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| Bestwick M, Jeong MY, Khalimonchuk O, Kim H, Winge DR.
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| Mol Cell Biol 30(18):4480-91. Epub 2010 Jul 12. 2010
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| 5 | SNELS, SURF1
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| SURF1 missense mutations promote a mild Leigh phenotype.
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| Piekutowska-Abramczuk D, Magner M, Popowska E, Pronicki M, Karczmarewicz E, Sykut-Cegielska J, Kmiec T, Jurkiewicz E, Szymanska-Debinska T, Bielecka L, Krajewska-Walasek M, Vesela K, Zeman J, Pronicka E.
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| Clin Genet 76(2):195-204.PMID: 19780766 2009
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| 6 | SNELS, SURF1
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| Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease.
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| Pronicki M, Matyja E, Piekutowska-Abramczuk D, Szymanska-Debinska T, Karkucinska-Wieckowska A, Karczmarewicz E, Grajkowska W, Kmiec T, Popowska E, Sykut-Cegielska J.
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| J Clin Pathol 61(4):460-6. Epub 2007 Oct 1.PMID: 17908801 2008
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| 7 | SNELS, SURF1
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| Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency.
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| YŸksel A, Seven M, Cetincelik U, Ye¼il G, Kšksal V.
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| Pediatr Neurol 34(6):486-9. 2006
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| 8 | SNELS, SURF1
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| Hypertrichosis in patients with SURF1 mutations.
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| Ostergaard E, Bradinova I, Ravn SH, Hansen FJ, Simeonov E, Christensen E, Wibrand F, Schwartz M.
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| Am J Med Genet A 138(4):384-8. 2005
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| 9 | SNELS, SURF1
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| SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency.
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| Moslemi AR, Tulinius M, Darin N, Aman P, Holme E, Oldfors A.
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| Neurology 61(7):991-3. 2003
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| 10 | SNELS, SURF1
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| A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis.
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| Williams SL, Taanman JW, Hansikova H, Houst'kova H, Chowdhury S, Zeman J, Houstek J.
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| Mol Genet Metab 73(4):340-3. 2001
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| 11 | SNELS, SURF1
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| Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.
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| Poyau A, Buchet K, Bouzidi MF, Zabot MT, Echenne B, Yao J, Shoubridge EA, Godinot C.
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| Hum Genet 106(2):194-205. 2000
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| 12 | SNELS, SURF1
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| Expression and functional analysis of SURF1 in leigh syndrome patients with cytochrome c oxidase deficiency.
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| Yao J, Shoubridge EA.
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| Hum Mol Genet 8(13):2541-9 1999
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| 13 | SNELS, SURF1
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| Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.
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| Teraoka M, Yokoyama Y, Ninomiya S, Inoue C, Yamashita S, Seino Y.
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| Hum Genet 105(6):560-3 1999
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| 14 | SNELS, SURF1
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| Sequence conservation from human to prokaryotes of Surf1, a protein involved in cytochrome c oxidase assembly, deficient in Leigh syndrome.
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| Poyau A, Buchet K, Godinot C.
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| FEBS Lett 462(3):416-20. 1999
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| 15 | SNELS, SURF1
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| Mutations of SURF-1 in Leigh disease associated with cytochrome C oxidase deficiency.
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| Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T, Zeviani M.
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| Am J Hum Genet 63 : 1609-1621. 1998
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| 16 | SNELS, SURF1
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| SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.
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| Zhu Z, et al.
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| Nat Genet 20 : 337-343. 1998
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| 17 | SNELS, SURF1
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| A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.
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| Munaro M, et al.
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| Hum Mol Genet 6 : 221-228. 1997
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| 18 | LGS, PDHA1, SNE1, SNELS, SURF1
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| Leigh syndrome : clinical features and biochemical and DNA abnormalities.
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| Rahman S, et al.
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| Ann Neurol 39 : 343-351. 1996
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| 19 | SNELS, SURF1
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| Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome.
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| Lombes A, et al.
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| Neurology 41 : 491- 498. 1991
|