PubMed (OMIM) for id: 44095

Year	Number of Results
1951	1
1954	1
1957	1
1967	1
1968	1
1969	2
1970	2
1971	1
1973	2
1974	1
1976	1
1977	1
1978	1
1980	1
1983	2
1984	1
1986	1
1987	4
1988	1
1989	1
1990	2
1991	7
1992	7
1993	6
1994	2
1995	4
1996	4
1997	4
1998	8
1999	5
2000	2
2001	3
2002	4
2003	6
2004	4
2024	0

1

Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.

Oquendo CE, Antonicka H, Shoubridge EA, Reardon W, Brown GK. Oquendo CE, et al. J Med Genet. 2004 Jul;41(7):540-4. doi: 10.1136/jmg.2003.017426. J Med Genet. 2004. PMID: 15235026 Free PMC article. No abstract available.

2

A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.

Maniura-Weber K, Taylor RW, Johnson MA, Chrzanowska-Lightowlers Z, Morris AA, Charlton CP, Turnbull DM, Bindoff LA. Maniura-Weber K, et al. Eur J Hum Genet. 2004 Jun;12(6):509-12. doi: 10.1038/sj.ejhg.5201185. Eur J Hum Genet. 2004. PMID: 15054399

3

Subacute necrotizing encephalomyelopathy in an infant.

LEIGH D. LEIGH D. J Neurol Neurosurg Psychiatry. 1951 Aug;14(3):216-21. doi: 10.1136/jnnp.14.3.216. J Neurol Neurosurg Psychiatry. 1951. PMID: 14874135 Free PMC article. No abstract available.

4

Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan.

Sudo A, Honzawa S, Nonaka I, Goto YI. Sudo A, et al. J Hum Genet. 2004;49(2):92-96. doi: 10.1007/s10038-003-0116-1. Epub 2004 Jan 17. J Hum Genet. 2004. PMID: 14730434

5

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.

Bénit P, Slama A, Cartault F, Giurgea I, Chretien D, Lebon S, Marsac C, Munnich A, Rötig A, Rustin P. Bénit P, et al. J Med Genet. 2004 Jan;41(1):14-7. doi: 10.1136/jmg.2003.014316. J Med Genet. 2004. PMID: 14729820 Free PMC article.

6

The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene.

Rossmanith W, Raffelsberger T, Roka J, Kornek B, Feucht M, Bittner RE. Rossmanith W, et al. Ann Neurol. 2003 Dec;54(6):820-3. doi: 10.1002/ana.10753. Ann Neurol. 2003. PMID: 14681892

7

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.

Ugalde C, Triepels RH, Coenen MJ, van den Heuvel LP, Smeets R, Uusimaa J, Briones P, Campistol J, Majamaa K, Smeitink JA, Nijtmans LG. Ugalde C, et al. Ann Neurol. 2003 Nov;54(5):665-9. doi: 10.1002/ana.10734. Ann Neurol. 2003. PMID: 14595656

8

Infantile subacute necrotizing encephalopathy with predilection for the brain stem.

RICHTER RB. RICHTER RB. J Neuropathol Exp Neurol. 1957 Jul;16(3):281-307. doi: 10.1097/00005072-195707000-00001. J Neuropathol Exp Neurol. 1957. PMID: 13439393 No abstract available.

9

A disease in infants resembling chronic Wernicke's encephalopathy.

FEIGIN I, WOLF A. FEIGIN I, et al. J Pediatr. 1954 Sep;45(3):243-63. doi: 10.1016/s0022-3476(54)80188-0. J Pediatr. 1954. PMID: 13202022 No abstract available.

10

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.

Grafakou O, Oexle K, van den Heuvel L, Smeets R, Trijbels F, Goebel HH, Bosshard N, Superti-Furga A, Steinmann B, Smeitink J. Grafakou O, et al. Eur J Pediatr. 2003 Oct;162(10):714-8. doi: 10.1007/s00431-003-1282-z. Epub 2003 Aug 19. Eur J Pediatr. 2003. PMID: 12925875

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