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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1977 1
1982 4
1983 15
1984 24
1985 29
1986 41
1987 47
1988 74
1989 69
1990 99
1991 80
1992 111
1993 114
1994 123
1995 133
1996 99
1997 91
1998 138
1999 116
2000 159
2001 119
2002 135
2003 121
2004 107
2005 152
2006 146
2007 158
2008 144
2009 182
2010 187
2011 197
2012 225
2013 218
2014 195
2015 203
2016 209
2017 184
2018 201
2019 144
2020 12
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4,421 results
Results by year
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Page 1
Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors.
Pareja F, Brandes AH, Basili T, Selenica P, Geyer FC, Fan D, Da Cruz Paula A, Kumar R, Brown DN, Gularte-Mérida R, Alemar B, Bi R, Lim RS, de Bruijn I, Fujisawa S, Gardner R, Feng E, Li A, da Silva EM, Lozada JR, Blecua P, Cohen-Gould L, Jungbluth AA, Rakha EA, Ellis IO, Edelweiss MIA, Palazzo J, Norton L, Hollmann T, Edelweiss M, Rubin BP, Weigelt B, Reis-Filho JS. Pareja F, et al. Nat Commun. 2018 Aug 30;9(1):3533. doi: 10.1038/s41467-018-05886-y. Nat Commun. 2018. PMID: 30166553 Free PMC article.
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.
Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R. Ng YS, et al. Ann Neurol. 2019 Aug;86(2):310-315. doi: 10.1002/ana.25525. Epub 2019 Jul 1. Ann Neurol. 2019. PMID: 31187502 Free PMC article.
Malignant Infantile osteopetrosis.
Vomero A, Tapie A, Arroyo C, Raggio V, Peluffo G, Dufort G. Vomero A, et al. Rev Chil Pediatr. 2019 Aug;90(4):443-447. doi: 10.32641/rchped.v90i4.987. Rev Chil Pediatr. 2019. PMID: 31859718 Free article. English, Spanish.
The mitochondrial ATP synthase is a shared drug target for aging and dementia.
Goldberg J, Currais A, Prior M, Fischer W, Chiruta C, Ratliff E, Daugherty D, Dargusch R, Finley K, Esparza-Moltó PB, Cuezva JM, Maher P, Petrascheck M, Schubert D. Goldberg J, et al. Aging Cell. 2018 Apr;17(2):e12715. doi: 10.1111/acel.12715. Epub 2018 Jan 7. Aging Cell. 2018. PMID: 29316249 Free PMC article.
ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration.
Hirose T, Cabrera-Socorro A, Chitayat D, Lemonnier T, Féraud O, Cifuentes-Diaz C, Gervasi N, Mombereau C, Ghosh T, Stoica L, Bacha JDA, Yamada H, Lauterbach MA, Guillon M, Kaneko K, Norris JW, Siriwardena K, Blasér S, Teillon J, Mendoza-Londono R, Russeau M, Hadoux J, Ito S, Corvol P, Matheus MG, Holden KR, Takei K, Emiliani V, Bennaceur-Griscelli A, Schwartz CE, Nguyen G, Groszer M. Hirose T, et al. J Clin Invest. 2019 Apr 15;129(5):2145-2162. doi: 10.1172/JCI79990. eCollection 2019 Apr 15. J Clin Invest. 2019. PMID: 30985297 Free PMC article.
Mutations in ATP6AP2 cause autophagic liver disease in humans.
Cannata Serio M, Rujano MA, Simons M. Cannata Serio M, et al. Autophagy. 2018;14(6):1088-1089. doi: 10.1080/15548627.2018.1434370. Epub 2018 May 10. Autophagy. 2018. PMID: 29388887 Free PMC article.
Assembly of the membrane domain of ATP synthase in human mitochondria.
He J, Ford HC, Carroll J, Douglas C, Gonzales E, Ding S, Fearnley IM, Walker JE. He J, et al. Proc Natl Acad Sci U S A. 2018 Mar 20;115(12):2988-2993. doi: 10.1073/pnas.1722086115. Epub 2018 Feb 12. Proc Natl Acad Sci U S A. 2018. PMID: 29440398 Free PMC article.
A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy.
Bardakjian T, Scherer SS. Bardakjian T, et al. J Neuromuscul Dis. 2019;6(3):385-387. doi: 10.3233/JND-190400. J Neuromuscul Dis. 2019. PMID: 31424416 No abstract available.
Frequent mutations of genes encoding vacuolar H+ -ATPase components in granular cell tumors.
Sekimizu M, Yoshida A, Mitani S, Asano N, Hirata M, Kubo T, Yamazaki F, Sakamoto H, Kato M, Makise N, Mori T, Yamazaki N, Sekine S, Oda I, Watanabe SI, Hiraga H, Yonemoto T, Kawamoto T, Naka N, Funauchi Y, Nishida Y, Honoki K, Kawano H, Tsuchiya H, Kunisada T, Matsuda K, Inagaki K, Kawai A, Ichikawa H. Sekimizu M, et al. Genes Chromosomes Cancer. 2019 Jun;58(6):373-380. doi: 10.1002/gcc.22727. Epub 2019 Jan 21. Genes Chromosomes Cancer. 2019. PMID: 30597645
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