PubMed for Bookshelf ID: 1474604

Year	Number of Results
1951	1
1986	1
1989	1
1991	1
1992	2
1993	6
1995	3
1996	2
1997	6
1998	5
1999	5
2000	7
2001	9
2002	8
2003	14
2004	12
2005	10
2006	12
2007	9
2008	17
2009	12
2010	17
2011	13
2012	10
2013	24
2014	24
2015	17
2016	22
2017	12
2022	1
2024	0

1

Variation among DNA banking consent forms: points for clinicians to bank on.

Huang SJ, Amendola LM, Sternen DL. Huang SJ, et al. J Community Genet. 2022 Aug;13(4):389-397. doi: 10.1007/s12687-022-00601-3. Epub 2022 Jul 14. J Community Genet. 2022. PMID: 35834113 Free PMC article.

2

NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.

Baertling F, Sánchez-Caballero L, van den Brand MAM, Wintjes LT, Brink M, van den Brandt FA, Wilson C, Rodenburg RJT, Nijtmans LGJ. Baertling F, et al. Eur J Hum Genet. 2017 Nov;25(11):1273-1277. doi: 10.1038/ejhg.2017.133. Epub 2017 Aug 30. Eur J Hum Genet. 2017. PMID: 28853723 Free PMC article.

3

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR. Lake NJ, et al. Am J Hum Genet. 2017 Aug 3;101(2):239-254. doi: 10.1016/j.ajhg.2017.07.005. Am J Hum Genet. 2017. PMID: 28777931 Free PMC article.

4

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

Rubegni A, Pisano T, Bacci G, Tessa A, Battini R, Procopio E, Giglio S, Pasquariello R, Santorelli FM, Guerrini R, Nesti C. Rubegni A, et al. Eur J Paediatr Neurol. 2017 Jul;21(4):671-677. doi: 10.1016/j.ejpn.2017.04.004. Epub 2017 Apr 15. Eur J Paediatr Neurol. 2017. PMID: 28442211

5

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.

Ogawa E, Shimura M, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Ishige M, Fuchigami T, Yamazaki T, Mori M, Kohda M, Kishita Y, Okazaki Y, Takahashi S, Ohtake A, Murayama K. Ogawa E, et al. J Inherit Metab Dis. 2017 Sep;40(5):685-693. doi: 10.1007/s10545-017-0042-6. Epub 2017 Apr 20. J Inherit Metab Dis. 2017. PMID: 28429146 Free PMC article.

6

Ketogenic diet attenuates hepatopathy in mouse model of respiratory chain complex III deficiency caused by a Bcs1l mutation.

Purhonen J, Rajendran J, Mörgelin M, Uusi-Rauva K, Katayama S, Krjutskov K, Einarsdottir E, Velagapudi V, Kere J, Jauhiainen M, Fellman V, Kallijärvi J. Purhonen J, et al. Sci Rep. 2017 Apr 19;7(1):957. doi: 10.1038/s41598-017-01109-4. Sci Rep. 2017. PMID: 28424480 Free PMC article.

7

Live birth derived from oocyte spindle transfer to prevent mitochondrial disease.

Zhang J, Liu H, Luo S, Lu Z, Chávez-Badiola A, Liu Z, Yang M, Merhi Z, Silber SJ, Munné S, Konstantinidis M, Wells D, Tang JJ, Huang T. Zhang J, et al. Reprod Biomed Online. 2017 Apr;34(4):361-368. doi: 10.1016/j.rbmo.2017.01.013. Reprod Biomed Online. 2017. PMID: 28385334

8

Mitochondrial Donation - Clearing the Final Regulatory Hurdle in the United Kingdom.

Herbert M, Turnbull D. Herbert M, et al. N Engl J Med. 2017 Jan 12;376(2):171-173. doi: 10.1056/NEJMcibr1615669. Epub 2016 Dec 28. N Engl J Med. 2017. PMID: 28030773 No abstract available.

9

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

Riley LG, Cowley MJ, Gayevskiy V, Roscioli T, Thorburn DR, Prelog K, Bahlo M, Sue CM, Balasubramaniam S, Christodoulou J. Riley LG, et al. J Inherit Metab Dis. 2017 Mar;40(2):261-269. doi: 10.1007/s10545-016-0010-6. Epub 2016 Dec 19. J Inherit Metab Dis. 2017. PMID: 27995398

10

Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.

Baertling F, Sánchez-Caballero L, Timal S, van den Brand MA, Ngu LH, Distelmaier F, Rodenburg RJ, Nijtmans LG. Baertling F, et al. Mol Genet Metab. 2017 Mar;120(3):243-246. doi: 10.1016/j.ymgme.2016.12.005. Epub 2016 Dec 11. Mol Genet Metab. 2017. PMID: 27986404

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