PubMed for id: 463103

Year	Number of Results
1984	1
1987	1
1988	1
1990	2
1991	3
1992	2
1993	4
1994	5
1995	2
1996	3
1997	7
1998	1
1999	4
2000	3
2001	9
2002	5
2003	6
2004	8
2005	6
2006	11
2007	13
2008	19
2009	13
2010	15
2011	17
2012	17
2013	16
2014	25
2015	30
2016	23
2017	27
2018	28
2019	26
2020	28
2021	33
2022	33
2023	32
2024	6

1

Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin.

Heimer G, Eyal E, Zhu X, Ruzzo EK, Marek-Yagel D, Sagiv D, Anikster Y, Reznik-Wolf H, Pras E, Oz Levi D, Lancet D, Ben-Zeev B, Nissenkorn A. Heimer G, et al. Eur J Paediatr Neurol. 2018 Jan;22(1):93-101. doi: 10.1016/j.ejpn.2017.09.004. Epub 2017 Sep 15. Eur J Paediatr Neurol. 2018. PMID: 28967629

2

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.

Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G, Zeviani M. Ghezzi D, et al. Am J Hum Genet. 2010 Apr 9;86(4):639-49. doi: 10.1016/j.ajhg.2010.03.002. Epub 2010 Apr 1. Am J Hum Genet. 2010. PMID: 20362274 Free PMC article.

3

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

Fernandez-Moreira D, Ugalde C, Smeets R, Rodenburg RJ, Lopez-Laso E, Ruiz-Falco ML, Briones P, Martin MA, Smeitink JA, Arenas J. Fernandez-Moreira D, et al. Ann Neurol. 2007 Jan;61(1):73-83. doi: 10.1002/ana.21036. Ann Neurol. 2007. PMID: 17262856

4

Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.

Indrieri A, Franco B. Indrieri A, et al. Genes (Basel). 2021 Feb 11;12(2):263. doi: 10.3390/genes12020263. Genes (Basel). 2021. PMID: 33670341 Free PMC article. Review.

5

Paradoxical Inhibition of Glycolysis by Pioglitazone Opposes the Mitochondriopathy Caused by AIF Deficiency.

Bénit P, Pelhaître A, Saunier E, Bortoli S, Coulibaly A, Rak M, Schiff M, Kroemer G, Zeviani M, Rustin P. Bénit P, et al. EBioMedicine. 2017 Mar;17:75-87. doi: 10.1016/j.ebiom.2017.02.013. Epub 2017 Feb 16. EBioMedicine. 2017. PMID: 28229909 Free PMC article.

6

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

Mierzewska H, Rydzanicz M, Biegański T, Kosinska J, Mierzewska-Schmidt M, Ługowska A, Pollak A, Stawiński P, Walczak A, Kędra A, Obersztyn E, Szczepanik E, Płoski R. Mierzewska H, et al. Clin Genet. 2017 Jan;91(1):30-37. doi: 10.1111/cge.12792. Epub 2016 Jun 2. Clin Genet. 2017. PMID: 27102849

7

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.

Rinaldi C, Grunseich C, Sevrioukova IF, Schindler A, Horkayne-Szakaly I, Lamperti C, Landouré G, Kennerson ML, Burnett BG, Bönnemann C, Biesecker LG, Ghezzi D, Zeviani M, Fischbeck KH. Rinaldi C, et al. Am J Hum Genet. 2012 Dec 7;91(6):1095-102. doi: 10.1016/j.ajhg.2012.10.008. Am J Hum Genet. 2012. PMID: 23217327 Free PMC article.

8

[The molecular background of Leigh syndrome].

Piekutowska-Abramczuk D. Piekutowska-Abramczuk D. Neurol Neurochir Pol. 2008 May-Jun;42(3):238-50. Neurol Neurochir Pol. 2008. PMID: 18651330 Review. Polish.

9

Histopathologic-genotypic correlations in retinitis pigmentosa and allied diseases.

Ben-Arie-Weintrob Y, Berson EL, Dryja TP. Ben-Arie-Weintrob Y, et al. Ophthalmic Genet. 2005 Jun;26(2):91-100. doi: 10.1080/13816810590968032. Ophthalmic Genet. 2005. PMID: 16020312

10

Genes and syndromic hearing loss.

Keats BJ. Keats BJ. J Commun Disord. 2002 Jul-Aug;35(4):355-66. doi: 10.1016/s0021-9924(02)00090-4. J Commun Disord. 2002. PMID: 12160354

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