Nida Nur Hanifah G2A009049 Bab8KTI
DAFTAR PUSTAKA
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2.
3.
4.
5.
6.
7.
8.
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from
:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2643051/
Harding AE, Sweeney MG, Govan GG, Riordan-Eva P. Pedigree analysis in
Leber hereditary optic neuropathy families with apathogenic mtDNA
mutation. Am J Hum Genet [Internet]. 1995 [cited 2012 Aug 13];57(1):77–
86.
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from:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801226/pdf/ajhg00033-0104
.pdf
Newman NJ, Biousse V. Hereditary optic neuropathies. Eye. 2004;
18(11):1144–1160.
Mackey DA, Oostra RJ, Rosenberg T, Nikoskelainen E, Bronte-Stewart J,
Poulton J, et al. Primary pathogenic mtDNA mutations in multigeneration
pedigrees with Leber hereditary optic neuropathy. American journal of human
genetics[Internet]. 1996 [cited 2012 Aug 13] ;59(2):481. Available from:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1914749/pdf/ajhg00021-0208
.pdf
Johns DR, Colby KA, editors. Treatment of Leber's hereditary optic
neuropathy: theory to practice. Seminars in Ophthalmology; 2002: Informa
UK Ltd UK.
Nishioka T, Tasaki M, Soemantri A, Dyat M, Susanto J, Tamam M, et al.
Leber's hereditary optic neuropathy with 14484 mutation in Central Java,
Indonesia. Journal of human genetics[Internet]. 2003 [cited 2012 Aug 2013];
48(7):385-9.
Available
from:
http://www.springerlink.com/index/64JQE9F1JHWKX79Q.pdf
Nikoskelainen E, Marttila R, Huoponen K, Juvonen V, Lamminen T,
Sonninen P, et al. Leber's" plus": neurological abnormalities in patients with
Leber's hereditary optic neuropathy. Journal of Neurology, Neurosurgery &
Psychiatry[Internet]. 1995[cited 2012 Aug 13]; 59(2):160-4. Available from :
http://jnnp.bmj.com/content/59/2/160.full.pdf
Savini G, Barboni P, Valentino ML, Montagna P, Cortelli P, De Negri AM, et
al. Retinal nerve fiber layer evaluation by optical coherence tomography in
unaffected carriers with Leber's hereditary optic neuropathy mutations.
Ophthalmology[Internet].
2005[Cited 2012 Aug 13]; 112(1):127-31.
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http://www.sciencedirect.com/science/article/pii/S0161642004016574
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Med Genet. 2002;39:162–9.
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from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1120388/
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fields in Japanese patients. International Ophthalmology. 2012:1-7.
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ON HEALTH CARE OUTCOMES. Journal Article, Available from:
webpages.charter.net
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T, et al. Quality of life in patients with leber hereditary optic neuropathy.
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13];
50(7):3112-5.
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from:
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http://www.biomedcentral.com/1477-7525/3/65
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life in people with central retinal vein occlusion using the 25-item National
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r
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Aug
13];39(3):162-9.
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from:
http://jmg.bmj.com/content/39/3/162.full
Newman NJ, Biousse V, Newman SA, Bhatti MT, Hamilton SR, Farris BK,
et al. Progression of visual field defects in leber hereditary optic neuropathy:
experience of the LHON treatment trial. American journal of ophthalmology.
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http://www.ajo.com/article/s0002-9394(06)00018-3/abstract
Johns DR, Neufeld M. Pitfalls in the molecular genetic diagnosis of Leber
hereditary optic neuropathy (LHON). American journal of human genetics.
1993;53(4):916.
Chalmers R, Schapira A. Clinical, biochemical and molecular genetic features
of Leber's hereditary optic neuropathy. Biochimica et biophysica acta.
1999;1410(2):147.
Singh G, Lott MT, Wallace DC. A mitochondrial DNA mutation as a cause of
Leber's hereditary optic neuropathy. New England Journal of Medicine.
1989;320(20):1300-5.
Brown MD, Voljavec AS, Lott M, Torroni A, Yang CC, Wallace DC.
Mitochondrial DNA complex I and III mutations associated with Leber's
hereditary optic neuropathy. Genetics. 1992;130(1):163-73.
Vilkki J, Savontaus M, Nikoskelainen E. Genetic heterogeneity in Leber
hereditary optic neuroretinopathy revealed by mitochondrial DNA
polymorphism. American journal of human genetics. 1989;45(2):206.
Greaves LC, Reeve AK, Taylor RW, Turnbull DM. Mitochondrial DNA and
disease. The Journal of pathology[Internet]. 2012[cited 2012 Dec]; 226: 275.
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http://www.muskelkrank.ch/downloads/forschung/Turnbull.%20Review.pdf
Mariotti C, Tiranti V, Carrara F, Dallapiccola B, DiDonato S, Zeviani M.
Defective respiratory capacity and mitochondrial protein synthesis in
transformant cybrids harboring the tRNA (Leu (UUR)) mutation associated
with maternally inherited myopathy and cardiomyopathy. Journal of Clinical
Investigation[Internet]. 1994[cited 2012 Dec];93(3):1102. Available from:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC294050/pdf/jcinvest00032-01
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Taylor RW, Turnbull DM. Mitochondrial DNA mutations in human disease.
Nature Reviews Genetics. 2005;6(5):389-402.
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Murray, Robert K, Granner Daryl K, Rodwell Victor W. Biokimia Harper
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2. Lembar Informed Consent
3.
SPSS Spreadsheet
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2.
3.
4.
5.
6.
7.
8.
Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF. Inherited
mitochondrial optic neuropathies. J Med Genet[Internet]. 2009[cited 2012
Aug
28];
46:145–58.
Available
from
:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2643051/
Harding AE, Sweeney MG, Govan GG, Riordan-Eva P. Pedigree analysis in
Leber hereditary optic neuropathy families with apathogenic mtDNA
mutation. Am J Hum Genet [Internet]. 1995 [cited 2012 Aug 13];57(1):77–
86.
Available
from:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801226/pdf/ajhg00033-0104
Newman NJ, Biousse V. Hereditary optic neuropathies. Eye. 2004;
18(11):1144–1160.
Mackey DA, Oostra RJ, Rosenberg T, Nikoskelainen E, Bronte-Stewart J,
Poulton J, et al. Primary pathogenic mtDNA mutations in multigeneration
pedigrees with Leber hereditary optic neuropathy. American journal of human
genetics[Internet]. 1996 [cited 2012 Aug 13] ;59(2):481. Available from:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1914749/pdf/ajhg00021-0208
Johns DR, Colby KA, editors. Treatment of Leber's hereditary optic
neuropathy: theory to practice. Seminars in Ophthalmology; 2002: Informa
UK Ltd UK.
Nishioka T, Tasaki M, Soemantri A, Dyat M, Susanto J, Tamam M, et al.
Leber's hereditary optic neuropathy with 14484 mutation in Central Java,
Indonesia. Journal of human genetics[Internet]. 2003 [cited 2012 Aug 2013];
48(7):385-9.
Available
from:
http://www.springerlink.com/index/64JQE9F1JHWKX79Q.pdf
Nikoskelainen E, Marttila R, Huoponen K, Juvonen V, Lamminen T,
Sonninen P, et al. Leber's" plus": neurological abnormalities in patients with
Leber's hereditary optic neuropathy. Journal of Neurology, Neurosurgery &
Psychiatry[Internet]. 1995[cited 2012 Aug 13]; 59(2):160-4. Available from :
http://jnnp.bmj.com/content/59/2/160.full.pdf
Savini G, Barboni P, Valentino ML, Montagna P, Cortelli P, De Negri AM, et
al. Retinal nerve fiber layer evaluation by optical coherence tomography in
unaffected carriers with Leber's hereditary optic neuropathy mutations.
Ophthalmology[Internet].
2005[Cited 2012 Aug 13]; 112(1):127-31.
Available
from:
http://www.sciencedirect.com/science/article/pii/S0161642004016574
9. Man PY, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. J
Med Genet. 2002;39:162–9.
10. Higginson IJ, Carr AJ. Using quality of life measures in the clinical setting.
Bmj[Internet]. 2001[cited 2012 Aug 13]; 322(7297):1297-300. Available
from: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1120388/
11. Yanagisawa M, Kato S, Kobayashi M, Watanabe M, Ochiai M. Relationship
between vision-related quality of life and different types of existing visual
fields in Japanese patients. International Ophthalmology. 2012:1-7.
12. Joan Stelmack O. QUALITY OF LIFE ASSESSMENT AND RESEARCH
ON HEALTH CARE OUTCOMES. Journal Article, Available from:
webpages.charter.net
13. Kirkman MA, Korsten A, Leonhardt M, Dimitriadis K, Ireneaus F, Klopstock
T, et al. Quality of life in patients with leber hereditary optic neuropathy.
Investigative ophthalmology & visual science[Internet]. 2009[cited 2012 Aug
13];
50(7):3112-5.
Available
from:
http://www.iovs.org/content/50/7/3112.full
14. Suzukamo Y, Oshika T, Yuzawa M, Tokuda Y, Tomidokoro A, Oki K, et al.
Psychometric properties of the 25-item national eye institute visual function
questionnaire (NEI VFQ-25), japanese version. Health and quality of life
outcomes.
2005;3(1):65.
Available
from:
http://www.biomedcentral.com/1477-7525/3/65
15. Deramo VA, Cox TA, Syed AB, Lee PP, Fekrat S. Vision-related quality of
life in people with central retinal vein occlusion using the 25-item National
Eye Institute Visual Function Questionnaire. Archives of Ophthalmology.
2003;121(9):1297.
16. McKean-Cowdin R, Wang Y, Wu J, Azen SP, Varma R. Impact of visual
field loss on health-related quality of life in glaucoma: the Los Angeles Latino
Eye Study. Ophthalmology. 2008;115(6):941-8.
17. Riordan-Eva P, Whitcher J. Vaughan & Asbury's general ophthalmology:
Wiley Online Library; 2008.
18. Zhang J, Richard M. Rubin and Narsing A. Rao. Duanes Ophthalmology:
Anatomy and Embryology of the Optic Nerve [Internet] . 2006. e-book
available
from:
http://www.oculist.net/downaton502/prof/ebook/duanes/pages/v7/v7c025.htm
l#r3
19. Hayreh SS: Anatomy and physiology of the optic nerve head. Trans Am Acad
Ophthalmol Otolaryngol. 1974. 78:240
10.
http://webeye.ophth.uiowa.edu/component/content/article/118-aionpart2?start
=1
21. Kujoth G, Hiona A, Pugh T, Someya S, Panzer K, Wohlgemuth S, et al.
Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian
aging. Science[Internet]. 2005[Cited 2012 Dec] ;309(5733):481. Available
f
r
o
m
:
http://newburyparkhighschool.net/lockwood/IBBio/HANDOUTS/ARTICLEmtDNA_Aging.pdf
22. http://www.sciencedirect.com/science/article/pii/B9780702029837000437
23. Kirkman MA, Yu-Wai-Man P, Korsten A, Leonhardt M, Dimitriadis K, De
Coo IF, et al. Gene–environment interactions in Leber hereditary optic
24.
25.
26.
27.
28.
29.
30.
31.
32.
33.
34.
35.
36.
neuropathy. Brain[Internet]. 2009[cited 2012 Dec 7];132(9):2317-26.
Available from: http://brain.oxfordjournals.org/content/132/9/2317.long
Man PYW, Turnbull D, Chinnery P. Leber hereditary optic neuropathy.
Journal of medical genetics[Internet]. 2002 [Last revised April 19, 2012, cited
2012
Aug
13];39(3):162-9.
Available
from:
http://jmg.bmj.com/content/39/3/162.full
Newman NJ, Biousse V, Newman SA, Bhatti MT, Hamilton SR, Farris BK,
et al. Progression of visual field defects in leber hereditary optic neuropathy:
experience of the LHON treatment trial. American journal of ophthalmology.
2006;141(6):1061-7.
e1.
Available
from:
http://www.ajo.com/article/s0002-9394(06)00018-3/abstract
Johns DR, Neufeld M. Pitfalls in the molecular genetic diagnosis of Leber
hereditary optic neuropathy (LHON). American journal of human genetics.
1993;53(4):916.
Chalmers R, Schapira A. Clinical, biochemical and molecular genetic features
of Leber's hereditary optic neuropathy. Biochimica et biophysica acta.
1999;1410(2):147.
Singh G, Lott MT, Wallace DC. A mitochondrial DNA mutation as a cause of
Leber's hereditary optic neuropathy. New England Journal of Medicine.
1989;320(20):1300-5.
Brown MD, Voljavec AS, Lott M, Torroni A, Yang CC, Wallace DC.
Mitochondrial DNA complex I and III mutations associated with Leber's
hereditary optic neuropathy. Genetics. 1992;130(1):163-73.
Vilkki J, Savontaus M, Nikoskelainen E. Genetic heterogeneity in Leber
hereditary optic neuroretinopathy revealed by mitochondrial DNA
polymorphism. American journal of human genetics. 1989;45(2):206.
Greaves LC, Reeve AK, Taylor RW, Turnbull DM. Mitochondrial DNA and
disease. The Journal of pathology[Internet]. 2012[cited 2012 Dec]; 226: 275.
Available
from
:
http://www.muskelkrank.ch/downloads/forschung/Turnbull.%20Review.pdf
Mariotti C, Tiranti V, Carrara F, Dallapiccola B, DiDonato S, Zeviani M.
Defective respiratory capacity and mitochondrial protein synthesis in
transformant cybrids harboring the tRNA (Leu (UUR)) mutation associated
with maternally inherited myopathy and cardiomyopathy. Journal of Clinical
Investigation[Internet]. 1994[cited 2012 Dec];93(3):1102. Available from:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC294050/pdf/jcinvest00032-01
92.pdf
Taylor RW, Turnbull DM. Mitochondrial DNA mutations in human disease.
Nature Reviews Genetics. 2005;6(5):389-402.
Campbell. Biologi,Edisi kelima Jilid I,164-165,197. Jakarta: Erlangga; 2002.
Murray, Robert K, Granner Daryl K, Rodwell Victor W. Biokimia Harper
Ed.25, Jakarta:Penerbit Buku Kedokteran EGC;2006.
Irwin MH, Parameshwaran, Pinkert CA. Mouse models of mitochondrial
complex I dysfunction. The International Journal of Biochemistry & Cell
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