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Items: 47

1.

MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.

Shen L, Attimonelli M, Bai R, Lott MT, Wallace DC, Falk MJ, Gai X.

Hum Mutat. 2018 Jun;39(6):806-810. doi: 10.1002/humu.23422. Epub 2018 Apr 6.

2.

Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP.

Sonney S, Leipzig J, Lott MT, Zhang S, Procaccio V, Wallace DC, Sondheimer N.

PLoS Comput Biol. 2017 Dec 11;13(12):e1005867. doi: 10.1371/journal.pcbi.1005867. eCollection 2017 Dec.

3.

Leber Hereditary Optic Neuropathy: Exemplar of an mtDNA Disease.

Wallace DC, Lott MT.

Handb Exp Pharmacol. 2017;240:339-376. doi: 10.1007/164_2017_2. Review.

PMID:
28233183
4.

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.

Shen L, Diroma MA, Gonzalez M, Navarro-Gomez D, Leipzig J, Lott MT, van Oven M, Wallace DC, Muraresku CC, Zolkipli-Cunningham Z, Chinnery PF, Attimonelli M, Zuchner S, Falk MJ, Gai X.

Hum Mutat. 2016 Jun;37(6):540-548. doi: 10.1002/humu.22974. Epub 2016 Mar 21.

5.

Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.

Falk MJ, Shen L, Gonzalez M, Leipzig J, Lott MT, Stassen AP, Diroma MA, Navarro-Gomez D, Yeske P, Bai R, Boles RG, Brilhante V, Ralph D, DaRe JT, Shelton R, Terry SF, Zhang Z, Copeland WC, van Oven M, Prokisch H, Wallace DC, Attimonelli M, Krotoski D, Zuchner S, Gai X; MSeqDR Consortium Participants; MSeqDR Consortium participants: Sherri Bale, Jirair Bedoyan, Doron Behar, Penelope Bonnen, Lisa Brooks, Claudia Calabrese, Sarah Calvo, Patrick Chinnery, John Christodoulou, Deanna Church,; Rosanna Clima, Bruce H. Cohen, Richard G. Cotton, IFM de Coo, Olga Derbenevoa, Johan T. den Dunnen, David Dimmock, Gregory Enns, Giuseppe Gasparre,; Amy Goldstein, Iris Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard H. Haas, Hakon Hakonarson, Michio Hirano, Douglas Kerr, Dong Li, Maria Lvova, Finley Macrae, Donna Maglott, Elizabeth McCormick, Grant Mitchell, Vamsi K. Mootha, Yasushi Okazaki,; Aurora Pujol, Melissa Parisi, Juan Carlos Perin, Eric A. Pierce, Vincent Procaccio, Shamima Rahman, Honey Reddi, Heidi Rehm, Erin Riggs, Richard Rodenburg, Yaffa Rubinstein, Russell Saneto, Mariangela Santorsola, Curt Scharfe,; Claire Sheldon, Eric A. Shoubridge, Domenico Simone, Bert Smeets, Jan A. Smeitink, Christine Stanley, Anu Suomalainen, Mark Tarnopolsky, Isabelle Thiffault, David R. Thorburn, Johan Van Hove, Lynne Wolfe, and Lee-Jun Wong.

Mol Genet Metab. 2015 Mar;114(3):388-96. doi: 10.1016/j.ymgme.2014.11.016. Epub 2014 Dec 4. Review.

6.

mtDNA Variation and Analysis Using Mitomap and Mitomaster.

Lott MT, Leipzig JN, Derbeneva O, Xie HM, Chalkia D, Sarmady M, Procaccio V, Wallace DC.

Curr Protoc Bioinformatics. 2013 Dec;44:1.23.1-26. doi: 10.1002/0471250953.bi0123s44.

7.

Toward a mtDNA locus-specific mutation database using the LOVD platform.

Elson JL, Sweeney MG, Procaccio V, Yarham JW, Salas A, Kong QP, van der Westhuizen FH, Pitceathly RD, Thorburn DR, Lott MT, Wallace DC, Taylor RW, McFarland R.

Hum Mutat. 2012 Sep;33(9):1352-8. doi: 10.1002/humu.22118. Epub 2012 Jul 2.

8.

MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences.

Brandon MC, Ruiz-Pesini E, Mishmar D, Procaccio V, Lott MT, Nguyen KC, Spolim S, Patil U, Baldi P, Wallace DC.

Hum Mutat. 2009 Jan;30(1):1-6. doi: 10.1002/humu.20801.

9.

An enhanced MITOMAP with a global mtDNA mutational phylogeny.

Ruiz-Pesini E, Lott MT, Procaccio V, Poole JC, Brandon MC, Mishmar D, Yi C, Kreuziger J, Baldi P, Wallace DC.

Nucleic Acids Res. 2007 Jan;35(Database issue):D823-8. Epub 2006 Dec 18.

10.

Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups.

Starikovskaya EB, Sukernik RI, Derbeneva OA, Volodko NV, Ruiz-Pesini E, Torroni A, Brown MD, Lott MT, Hosseini SH, Huoponen K, Wallace DC.

Ann Hum Genet. 2005 Jan;69(Pt 1):67-89.

11.

MITOMAP: a human mitochondrial genome database--2004 update.

Brandon MC, Lott MT, Nguyen KC, Spolim S, Navathe SB, Baldi P, Wallace DC.

Nucleic Acids Res. 2005 Jan 1;33(Database issue):D611-3.

12.

Analysis of mitochondrial DNA diversity in the aleuts of the commander islands and its implications for the genetic history of beringia.

Derbeneva OA, Sukernik RI, Volodko NV, Hosseini SH, Lott MT, Wallace DC.

Am J Hum Genet. 2002 Aug;71(2):415-21. Epub 2002 Jun 25.

13.

Mitochondrial DNA variation in human evolution and disease.

Wallace DC, Brown MD, Lott MT.

Gene. 1999 Sep 30;238(1):211-30. Review.

PMID:
10570998
14.

MITOMAP: a human mitochondrial genome database--1998 update.

Kogelnik AM, Lott MT, Brown MD, Navathe SB, Wallace DC.

Nucleic Acids Res. 1998 Jan 1;26(1):112-5.

15.

MITOMAP: an update on the status of the human mitochondrial genome database.

Kogelnik AM, Lott MT, Brown MD, Navathe SB, Wallace DC.

Nucleic Acids Res. 1997 Jan 1;25(1):196-9.

16.

MITOMAP: a human mitochondrial genome database.

Kogelnik AM, Lott MT, Brown MD, Navathe SB, Wallace DC.

Nucleic Acids Res. 1996 Jan 1;24(1):177-9.

17.

Mitochondrial DNA mutations in human degenerative diseases and aging.

Wallace DC, Shoffner JM, Trounce I, Brown MD, Ballinger SW, Corral-Debrinski M, Horton T, Jun AS, Lott MT.

Biochim Biophys Acta. 1995 May 24;1271(1):141-51. Review.

18.

Cuban optic neuropathy.

Newman NJ, Torroni A, Brown MD, Lott MT, Wallace DC, Philen R, Roman GC.

Neurology. 1995 Feb;45(2):397. No abstract available.

PMID:
7710535
20.
21.

Marked changes in mitochondrial DNA deletion levels in Alzheimer brains.

Corral-Debrinski M, Horton T, Lott MT, Shoffner JM, McKee AC, Beal MF, Graham BH, Wallace DC.

Genomics. 1994 Sep 15;23(2):471-6.

PMID:
7835898
22.
23.

Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy.

Brown MD, Torroni A, Huoponen K, Chen YS, Lott MT, Wallace DC.

Am J Hum Genet. 1994 Aug;55(2):410-2. No abstract available.

24.

mtDNA and Y-chromosome polymorphisms in four Native American populations from southern Mexico.

Torroni A, Chen YS, Semino O, Santachiara-Beneceretti AS, Scott CR, Lott MT, Winter M, Wallace DC.

Am J Hum Genet. 1994 Feb;54(2):303-18.

25.

Mitochondrial DNA mutations in epilepsy and neurological disease.

Wallace DC, Lott MT, Shoffner JM, Ballinger S.

Epilepsia. 1994;35 Suppl 1:S43-50.

PMID:
8293723
26.

Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.

Shoffner JM, Brown MD, Torroni A, Lott MT, Cabell MF, Mirra SS, Beal MF, Yang CC, Gearing M, Salvo R, et al.

Genomics. 1993 Jul;17(1):171-84.

PMID:
8104867
27.

Atypical Leber's hereditary optic neuropathy with molecular confirmation.

Weiner NC, Newman NJ, Lessell S, Johns DR, Lott MT, Wallace DC.

Arch Neurol. 1993 May;50(5):470-3.

PMID:
8489402
28.

Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age.

Corral-Debrinski M, Horton T, Lott MT, Shoffner JM, Beal MF, Wallace DC.

Nat Genet. 1992 Dec;2(4):324-9.

PMID:
1303288
29.

Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease.

Corral-Debrinski M, Shoffner JM, Lott MT, Wallace DC.

Mutat Res. 1992 Sep;275(3-6):169-80. Review.

PMID:
1383759
30.
31.

Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases.

Brown MD, Voljavec AS, Lott MT, MacDonald I, Wallace DC.

FASEB J. 1992 Jul;6(10):2791-9. Review.

PMID:
1634041
32.

Optic disk cupping and electrocardiographic abnormalities in an American pedigree with Leber's hereditary optic neuropathy.

Ortiz RG, Newman NJ, Manoukian SV, Diesenhouse MC, Lott MT, Wallace DC.

Am J Ophthalmol. 1992 May 15;113(5):561-6.

PMID:
1575231
33.

Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation.

Stone EM, Newman NJ, Miller NR, Johns DR, Lott MT, Wallace DC.

J Clin Neuroophthalmol. 1992 Mar;12(1):10-4.

PMID:
1532593
34.

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

Brown MD, Voljavec AS, Lott MT, Torroni A, Yang CC, Wallace DC.

Genetics. 1992 Jan;130(1):163-73.

35.

Diseases resulting from mitochondrial DNA point mutations.

Wallace DC, Lott MT, Shoffner JM, Brown MD.

J Inherit Metab Dis. 1992;15(4):472-9. Review.

PMID:
1528007
36.

Hypoxemia is associated with mitochondrial DNA damage and gene induction. Implications for cardiac disease.

Corral-Debrinski M, Stepien G, Shoffner JM, Lott MT, Kanter K, Wallace DC.

JAMA. 1991 Oct 2;266(13):1812-6.

PMID:
1890710
37.

The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation.

Newman NJ, Lott MT, Wallace DC.

Am J Ophthalmol. 1991 Jun 15;111(6):750-62.

PMID:
2039048
38.

MERRF: a model disease for understanding the principles of mitochondrial genetics.

Shoffner JM, Lott MT, Wallace DC.

Rev Neurol (Paris). 1991;147(6-7):431-5. Review.

PMID:
1962048
39.

Mitochondrial DNA mutations associated with neuromuscular diseases: analysis and diagnosis using the polymerase chain reaction.

Wallace DC, Lott MT, Lezza AM, Seibel P, Voljavec AS, Shoffner JM.

Pediatr Res. 1990 Nov;28(5):525-8.

PMID:
2123980
40.

Variable genotype of Leber's hereditary optic neuropathy patients.

Lott MT, Voljavec AS, Wallace DC.

Am J Ophthalmol. 1990 Jun 15;109(6):625-31.

PMID:
2346190
41.

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation.

Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, Wallace DC.

Cell. 1990 Jun 15;61(6):931-7.

PMID:
2112427
42.

Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy.

Shoffner JM, Lott MT, Voljavec AS, Soueidan SA, Costigan DA, Wallace DC.

Proc Natl Acad Sci U S A. 1989 Oct;86(20):7952-6.

43.

Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting respiratory complexes I and IV.

Zheng X, Shoffner JM, Lott MT, Voljavec AS, Krawiecki NS, Winn K, Wallace DC.

Neurology. 1989 Sep;39(9):1203-9.

PMID:
2549452
44.

A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy.

Singh G, Lott MT, Wallace DC.

N Engl J Med. 1989 May 18;320(20):1300-5.

PMID:
2566116
45.

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2nd, Nikoskelainen EK.

Science. 1988 Dec 9;242(4884):1427-30.

PMID:
3201231
46.

Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease.

Wallace DC, Zheng XX, Lott MT, Shoffner JM, Hodge JA, Kelley RI, Epstein CM, Hopkins LC.

Cell. 1988 Nov 18;55(4):601-10.

PMID:
3180221
47.

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