References of Mitochondrial Interest

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Aanen, D. K. and Maas, M. F. (2012). "Recruitment of healthy mitochondria fuels transmissible cancers". Trends in Genetics 28(28):1-6.

Abad, M. M., Cotter, P. D., Fodor, F. H., Larson, S., Ginsberg-Fellner, F., Desnick, R. J. and Abdenur, J. E. (1997). "Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitus." Metabolism 46(4):445-449.

Abe, K., Fujimura, H., Nishikawa, Y., Yorifuji, S., Mezaki, T., Hirono, N., Nishitani, N. and Kameyama, M. (1991). "Marked reduction in CSF lactate and pyruvate levels after CoQ therapy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)." Acta Neurologica Scandinavica 83(6):356-359.

Abe, S., Usami, S., Shinkawa, H., Weston, M. D., Overbeck, L. D., Hoover, D. M., Kenyon, J. B., Horai, S. and Kimberling, W. J. (1998). "Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation." European Journal of Human Genetics 6(6):563-569.

Abedi, S., Yung, G., Atilano, S. R., Thaker, K., Chang, S., Chwa, M., Schneider, K., Udar, N., Bota, D. and Kenney, M. C. (2020). "Differential effects of cisplatin on cybrid cells with varying mitochondrial DNA haplogroups." PeerJ 8:e9908.

Abou-Sleiman, P. M., Muqit, M. M. and Wood, N. W. (2006). "Expanding insights of mitochondrial dysfunction in Parkinson's disease." Nature Reviews. Neuroscience 7(3):207-219.

Abou Tayoun, A. N., Pesaran, T., DiStefano, M. T., Oza, A., Rehm, H. L., Biesecker, L. G., Harrison, S. M. and ClinGen Sequence Variant Interpretation Working Group (2018). "Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion." Human Mutation 39(11):1517-1524.

Abrahams, J. P., Leslie, A. G., Lutter, R. and Walker, J. E. (1994). "Structure at 2.8 A resolution of F1-ATPase from bovine heart mitochondria [see comments]." Nature 370(6491):621-628.

Abreu-Silva, R. S., Batissoco, A. C., Lezirovitz, K., Romanos, J., Rincon, D., Auricchio, M. T., Otto, P. A. and Mingroni-Netto, R. C. (2006). "Correspondence regarding Ballana et al.[BBRC 341(4):950-957], "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment"; [author reply BBRC 343(3):619-620]." Biochemical and Biophysical Research Communications 343(3):675-676.

Abu-Amero, K. K. and Bosley, T. M. (2005). "Detection of mitochondrial respiratory dysfunction in circulating lymphocytes using resazurin." Archives of Pathology and Laboratory Medicine 129(10):1295-1298.

Abu-Amero, K. K. and Bosley, T. M. (2006). "Prothrombotic and atherosclerotic risk factors lack significance in NAION patients harbouring mitochondrial DNA mutations." British Journal of Ophthalmology 90(1):119-120.

Abu-Amero, K. K. and Bosley, T. M. (2006). "Increased relative mitochondrial DNA content in leucocytes of patients with NAION." British Journal of Ophthalmology 90(7):823-825.

Abu-Amero, K. K. and Bosley, T. M. (2006). "Mitochondrial abnormalities in patients with LHON-like optic neuropathies." Investigative Ophthalmology and Visual Science 47(10):4211-4220.

Abu-Amero, K. K. and Bosley, T. M. (2007). "Reassessment of the pathologic significance of the 9438 mitochondrial DNA mutation associated with LHON." Ophthalmic Genetics 28(4):229-230.

Abu-Amero, K. K., Alzahrani, A. S., Zou, M. and Shi, Y. (2005). "High frequency of somatic mitochondrial DNA mutations in human thyroid carcinomas and complex I respiratory defect in thyroid cancer cell lines." Oncogene 24(8):1455-1460.

Abu-Amero, K. K., Alzahrani, A. S., Zou, M. and Shi, Y. (2006). "Association of mitochondrial DNA transversion mutations with familial medullary thyroid carcinoma/multiple endocrine neoplasia type 2 syndrome." Oncogene 25(5):677-684.

Abu-Amero, K. K., Azad, T. A., Sultan, T., Kalantan, H., Kondkar, A. A. and Al-Muammar, A. M. (2014). "Association of mitochondrial haplogroups H and R with keratoconus in Saudi Arabian patients." Investigative Ophthalmology and Visual Science 55(5):2827-2831.

Abu-Amero, K. K., Bosley, T. M. and Morales, J. (2008). "Analysis of nuclear and mitochondrial genes in patients with pseudoexfoliation glaucoma." Molecular Vision 14:29-36.

Abu-Amero, K. K., Bosley, T. M., Bohlega, S. and Hansen, E. (2005). "Mitochondrial T9957C mutation in association with NAION and seizures but not MELAS". Ophthalmic Genetics 26(1):31-36.

Abu-Amero, K. K., Bosley, T. M., Bohlega, S. and McLean, D. (2005). "Complex I respiratory defect in LHON plus dystonia with no mitochondrial DNA mutation." British Journal of Ophthalmology 89(10):1380-1381.

Abu-Amero, K. K., Cabrera, V. M., Larruga, J. M., Osman, E. A., Gonzalez, A. M. and Al-Obeidan, S. A. (2011). "Eurasian and Sub-Saharan African mitochondrial DNA haplogroup influences pseudoexfoliation glaucoma development in Saudi patients." Molecular Vision 17:543-547.

Abu-Amero, K. K., Gonzalez, A. M., Larruga, J. M., Bosley, T. M. and Cabrera, V. M. (2007). "Eurasian and African mitochondrial DNA influences in the Saudi Arabian population." BMC Evolutionary Biology 7:32.

Abu-Amero, K. K., Gonzalez, A. M., Osman, E. A., Larruga, J. M., Cabrera, V. M. and Al-Obeidan, S. A. (2011). "Mitochondrial DNA lineages of African origin confer susceptibility to primary open-angle glaucoma in Saudi patients." Molecular Vision 17:1468-1472.

Abu-Amero, K. K., Gonzalez, A. M., Osman, E. A., Larruga, J. M., Cabrera, V. M. and Al-Obeidan, S. A. (2011). "Susceptibility to primary angle closure glaucoma in Saudi Arabia: the possible role of mitochondrial DNA ancestry informative haplogroups." Molecular Vision 17:2171-2176.

Abu-Amero, K. K., Hauser, M. A., Mohamed, G., Liu, Y., Gibson, J., Gonzalez, A. M., Akafo, S. and Allingham, R. R. (2012). "Mitochondrial genetic background in Ghanaian patients with primary open-angle glaucoma." Molecular Vision 18:1955-1959.

Abu-Amero, K. K., Jaber, M., Hellani, A. and Bosley, T. M. (2010). "Genome-wide expression profile of LHON patients with the 11778 mutation." British Journal of Ophthalmology 94(2):256-259.

Abu-Amero, K. K., Larruga, J. M., Cabrera, V. M. and Gonzalez, A. M. (2008). "Mitochondrial DNA structure in the Arabian Peninsula." BMC Evolutionary Biology 8(1):45.

Abu-Amero, K. K., Morales, J. and Bosley, T. M. (2006). "Mitochondrial abnormalities in patients with primary open-angle glaucoma." Investigative Ophthalmology and Visual Science 47(6):2533-2541.

Abu-Amero, K. K., Ozand, P. T. and Al-Dhalaan, H. (2006). "Novel mitochondrial DNA transversion mutation in transfer ribonucleic acid for leucine 2 (CUN) in a patient with the clinical features of MELAS." Journal of Child Neurology 21(11):971-972.

Abu-Amero, K., Zou, M. and Shi, Y. (2004). "Mitochondrial A13514G mutation without MELAS but in association with papillary thyroid carcinoma." Clinical Genetics 66(6):569-570.

Abu-Erreish, G. M. and Sanadi, D. R. (1978). "Age-related changes in cytochrome concentration of myocardial mitochondria." Mechanisms of Ageing and Development 7(6):425-432.

Acaroglu, G., Kansu, T. and Dogulu, C. F. (2001). "Visual recovery patterns in children with Leber's hereditary optic neuropathy." International Ophthalmology 24(6):349-355.

Accetturo, M., Santamaria, M., Lascaro, D., Rubino, F., Achilli, A., Torroni, A., Tommaseo-Ponzetta, M. and Attimonelli, M. (2006). "Human mtDNA site-specific variability values can act as haplogroup markers." Hum Mutat 27(9):965-974.

Achilli, A., Iommarini, L., Olivieri, A., Pala, M., Kashani, B. H., et al. (2012). "Rare primary mitochondrial DNA mutations and synergistic variants in Leber's Hereditary Optic Neuropathy". PLoS ONE 7(8):e42242.

Achilli, A., Olivieri, A., Pala, M., Hooshiar Kashani, B., Carossa, V., et al. (2011). "Mitochondrial DNA backgrounds might modulate diabetes complications rather than T2DM as a whole". PLoS ONE 6(6):e21029.

Achilli, A., Olivieri, A., Pala, M., Metspalu, E., Fornarino, S., et al. (2007). "Mitochondrial DNA variation of modern Tuscans supports the near eastern origin of Etruscans". American Journal of Human Genetics 80(4):759-768.

Achilli, A., Perego, U. A., Bravi, C. M., Coble, M. D., Kong, Q. P., Woodward, S. R., Salas, A., Torroni, A. and Bandelt, H. J. (2008). "The phylogeny of the four pan-American MtDNA haplogroups: implications for evolutionary and disease studies." PLoS ONE 3(3):e1764.

Achilli, A., Rengo, C., Battaglia, V., Pala, M., Olivieri, A., Fornarino, S., Magri, C., Scozzari, R., Babudri, N., Santachiara-Benerecetti, A. S., Bandelt, H. J., Semino, O. and Torroni, A. (2005). "Saami and Berbers--an unexpected mitochondrial DNA link." American Journal of Human Genetics 76(5):883-886.

Achilli, A., Rengo, C., Magri, C., Battaglia, V., Olivieri, A., et al. (2004). "The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool." American Journal of Human Genetics 75(5):910-918.

Achilli, A., Rengo, C., Magri, C., Battaglia, V., Olivieri, A., et al. (2004). "The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool." American Journal of Human Genetics 75(5):910-918.

Acin-Perez, R., Bayona-Bafaluy, M. P., Fernandez-Silva, P., Moreno-Loshuertos, R., Perez-Martos, A., Bruno, C., Moraes, C. T. and Enriquez, J. A. (2004). "Respiratory complex III is required to maintain complex I in mammalian mitochondria." Molecular Cell 13(6):805-815.

Adachi, K., Fujiura, Y., Mayumi, F., Nozuhara, A., Sugiu, Y., Sakanashi, T., Hidaka, T. and Toshima, H. (1993). "A deletion of mitochondrial DNA in murine doxorubicin-induced cardiotoxicity." Biochemical and Biophysical Research Communications 195(2):945-951.

Adams, J. H., Blackwood, W. and Wilson, J. (1966). "Further clinical and pathological observations on Leber's optic atrophy." Brain 89(1):15-26.

Adams, K. L. and Palmer, J. D. (2003). "Evolution of mitochondrial gene content: gene loss and transfer to the nucleus." Molecular Phylogenetics and Evolution 29(3):380-395.

Adams, V., Griffin, L., Towbin, J., Gelb, B., Worley, K. and McCabe, E. R. (1991). "Porin interaction with hexokinase and glycerol kinase: metabolic microcompartmentation at the outer mitochondrial membrane." Biochemical Medicine and Metabolic Biology 45(3):271-291.

Adamson, G. M. and Billings, R. E. (1992). "Tumor necrosis factor induced oxidative stress in isolated mouse hepatocytes." Archives of Biochemistry and Biophysics 294(1):223-229.

Adhihetty, P. J., Irrcher, I., Joseph, A. M., Ljubicic, V. and Hood, D. A. (2003). "Plasticity of skeletal muscle mitochondria in response to contractile activity." Experimental Physiology 88(1):99-107.

Adhihetty, P. J., Taivassalo, T., Haller, R. G., Walkinshaw, D. R. and Hood, D. A. (2007). "The effect of training on the expression of mitochondrial biogenesis- and apoptosis-related proteins in skeletal muscle of patients with mtDNA defects." American Journal of Physiology. Endocrinology and Metabolism. 293(3):E672-E680.

Afifi, A. K., Ibrahim, M. Z., Bergman, R. A., Haydar, N. A., Mire, J., Bahuth, N. and Kaylani, F. (1972). "Morphologic features of hypermetabolic mitochondrial disease. A light microscopic, histochemical and electron microscopic study." Journal of the Neurological Sciences 15(3):271-290.

Agarwal, R. P. and Olivero, O. A. (1997). "Genotoxicity and mitochondrial damage in human lymphocytic cells chronically exposed to 3'-azido-2',3'-dideoxythymidine." Mutation Research 390(3):223-231.

Agostino, A., Valletta, L., Chinnery, P. F., Ferrari, G., Carrara, F., Taylor, R. W., Schaefer, A. M., Turnbull, D. M., Tiranti, V. and Zeviani, M. (2003). "Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)." Neurology 60(8):1354-1356.

Agris, P. F. (1996). "The importance of being modified: roles of modified nucleosides and Mg2+ in RNA structure and function." Progress in Nucleic Acid Research and Molecular biology 53:79-129.

Aguilera, I., Garcia-Lozano, J. R., Bautista, J., Campos, Y., Arenas, J. and Nunez-Roldan, A. (1999). "A novel missense mutation 15747 T>C in the mitochondrial cytochrome b gene." Human Mutation (Online) 14(6):545.

Ahmed, I. and Krishnamoorthy, G. (1992). "The non-equivalence of binding sites of coenzyme quinone and rotenone in mitochondrial NADH-CoQ reductase." FEBS Letters 300:275-278.

Aimar-Beurton, M., Korzeniewski, B., Letellier, T., Ludinard, S., Mazat, J. P. and Nazaret, C. (2002). "Virtual mitochondria: metabolic modelling and control." Molecular Biology Reports 29(1-2):227-232.

Aitken, R. J., Baker, M. A. and Sawyer, D. (2003). "Oxidative stress in the male germ line and its role in the aetiology of male infertility and genetic disease." Reproductive Biomedicine Online 7(1):65-70.

Aitullina, A., Baumane, K., Zalite, S., Ranka, R., Zole, E., Pole, I., Sepetiene, S., Laganovska, G., Baumanis, V. and Pliss, L. (2013). "Point mutations associated with Leber hereditary optic neuropathy in a Latvian population." Molecular Vision 19:2343-2351.

Akabane, S., Ueda, T., Nierhaus, K. H. and Takeuchi, N. (2014). "Ribosome rescue and translation termination at non-standard stop codons by ICT1 in mammalian mitochondria." PLoS Genetics 10(9):e1004616.

Akagi, M., Inui, K., Tsukamoto, H., Sakai, N., Muramatsu, T., Yamada, M., Matsuzaki, K., Goto, Y., Nonaka, I. and Okada, S. (2002). "A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome." Neuromuscular Disorders 12(1):53-55.

Akita, Y., Koga, Y., Iwanaga, R., Wada, N., Tsubone, J., Fukuda, S., Nakamura, Y. and Kato, H. (2000). "Fatal hypertrophic cardiomyopathy associated with an A8296G mutation in the mitochondrial tRNA(Lys) gene." Human Mutation 15(4):382.

Akiyama, S., Endo, H., Inohara, N., Ohta, S. and Kagawa, Y. (1994). "Gene structure and cell type-specific expression of the human ATP synthase alpha subunit." Biochimica et Biophysica Acta 1219(1):129-140.

Al-Abri, A., Podgorna, E., Rose, J. I., Pereira, L., Mulligan, C. J., Silva, N. M., Bayoumi, R., Soares, P. and Cerny, V. (2012). "Pleistocene-Holocene boundary in Southern Arabia from the perspective of human mtDNA variation". American Journal of Physical Anthropology 149(2):291-298.

Al-Dosary, M., Whittaker, R. G., Haughton, J., McFarland, R., Goodship, J., Turnbull, D. M. and Taylor, R. W. (2009). "Neuromuscular disease presentation with three genetic defects involving two genomes." Neuromuscular Disorders 19(12):841-844.

Al-Kafaji, G., Alharbi, M. A., Alkandari, H., Salem, A. H. and Bakhiet, M. (2022). "Analysis of the entire mitochondrial genome reveals Leber's hereditary optic neuropathy mitochondrial DNA mutations in an Arab cohort with multiple sclerosis." Scientific Reports 12(1):11099.

Al-Kafaji, G., Bakheit, H. F., AlAli, F., Fattah, M., Alhajeri, S., Alharbi, M. A., Daif, A., Alsabbagh, M. M., Alwehaidah, M. S. and Bakhiet, M. (2022). "Next-generation sequencing of the whole mitochondrial genome identifies functionally deleterious mutations in patients with multiple sclerosis." PLoS ONE 17:e0263606.

Aldosary, M., Al-Bakheet, A., Al-Dhalaan, H., Almass, R., Alsagob, M., et al. (2020). "Rett Syndrome, a neurodevelopmental disorder, whole-transcriptome, and mitochondrial genome multiomics analyses identify novel variations and disease pathways." OMICS 24(3):160-171.

Alharbi, M. A., Al-Kafaji, G., Khalaf, N. B., Messaoudi, S. A., Taha, S., Daif, A. and Bakhiet, M. (2019). "Four novel mutations in the mitochondrial ND4 gene of complex I in patients with multiple sclerosis." Biomedical Reports 11(6):257-268.

Alkhaldi, H. A., Phan, D. H. and Vik, S. B. (2022). "Analysis of human clinical mutations of mitochondrial ND1 in a bacterial model system for complex I." Life 12(11):1934.

Al Zoubi, M. S., Al-Batayneh, K., Alsmadi, M., Rashed, M., Al-Trad, B., Al Khateeb, W., Aljabali, A., Otoum, O., Al-Talib, M. and Batiha, O. (2020). "4,977-bp human mitochondrial DNA deletion is associated with asthenozoospermic infertility in Jordan." Andrologia 52(1):e13379.

Alavi, M. V., Bette, S., Schimpf, S., Schuettauf, F., Schraermeyer, U., Wehrl, H. F., Ruttiger, L., Beck, S. C., Tonagel, F., Pichler, B. J., Knipper, M., Peters, T., Laufs, J. and Wissinger, B. (2007). "A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy." Brain 130(Pt 4):1029-1042.

Albin, R. L. (1998). "Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations." Journal of Medical Genetics 35(3):258-259.

Albring, M., Griffith, J. and Attardi, G. (1977). "Association of a protein structure of probable membrane derivation with HeLa cell mitochondrial DNA near its origin of replication." Proceedings of the National Academy of Sciences of the United States of America 74(4):1348-1352.

Alcolado, J. C. and Thomas, A. W. (1995). "Maternally inherited diabetes mellitus: the role of mitochondrial DNA defects." Diabetic Medicine 12(2):102-108.

Alcolado, J. C., Clark, P. M., Rees, A. and Hales, C. N. (1994). "Insulin resistance and impaired glucose tolerance [letter; comment]." Lancet 344(8932):1293-1294.

Alcolado, J. C., Laji, K. and Gill-Randall, R. (2002). "Maternal transmission of diabetes." Diabetic Medicine 19(2):89-98.

Alcolado, J. C., Majid, A., Brockington, M., Sweeney, M. G., Morgan, R., Rees, A., Harding, A. E. and Barnett, A. H. (1994). "Mitochondrial gene defects in patients with NIDDM." Diabetologia 37(4):372-376.

Alexe, G., Fuku, N., Bilal, E., Ueno, H., Nishigaki, Y., Fujita, Y., Ito, M., Arai, Y., Hirose, N., Bhanot, G. and Tanaka, M. (2007). "Enrichment of longevity phenotype in mtDNA haplogroups D4b2b, D4a, and D5 in the Japanese population." Human Genetics 121(3-4):347-356.

Alexeyev, M. (2020). "Mitochondrial DNA: the common confusions." Mitochondrial DNA. Part A, DNA Mapping, Sequencing, and Analysis 31(2):45-47.

Alexeyev, M. F., Venediktova, N., Pastukh, V., Shokolenko, I., Bonilla, G. and Wilson, G. L. (2008). "Selective elimination of mutant mitochondrial genomes as therapeutic strategy for the treatment of NARP and MILS syndromes." Gene Therapy 15(7):516-523.

Ali, S. T., Duncan, A. M., Schappert, K., Heng, H. H., Tsui, L. C., Chow, W. and Robinson, B. H. (1993). "Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13." Genomics 18(2):435-439.

Aliev, G., Li, Y., Palacios, H. H. and Obrenovich, M. E. (2011). "Oxidative stress induced mitochondrial DNA deletion as a hallmark for the drug development in the context of the cerebrovascular diseases." Recent Patents on Cardiovascular Drug Discovery 6(3):222-241.

Aliev, G., Seyidova, D., Lamb, B. T., Obrenovich, M. E., Siedlak, S. L., Vinters, H. V., Friedland, R. P., LaManna, J. C., Smith, M. A. and Perry, G. (2003). "Mitochondria and vascular lesions as a central target for the development of Alzheimer's disease and Alzheimer disease-like pathology in transgenic mice." Neurological Research 25(6):665-674.

Alikani, M., Fauser, B. C. J., Garcia-Valesco, J. A., Simpson, J. L. and Johnson, M. H. (2017). "First birth following spindle transfer for mitochondrial replacement therapy: hope and trepidation." Reproductive Biomedicine Online 34(4):333-336.

Alila-Fersi, O., Tabebi, M., Maalej, M., Belguith, N., Keskes, L., Mkaouar-Rebai, E. and Fakhfakh, F. (2018). "First description of a novel mitochondrial mutation in the MT-TI gene associated with multiple mitochondrial DNA deletion and depletion in family with severe dilated mitochondrial cardiomyopathy." Biochemical and Biophysical Research Communications 497(4):1049-1054.

Aliyev, A., Chen, S. G., Seyidova, D., Smith, M. A., Perry, G., de la Torre, J. and Aliev, G. (2005). "Mitochondria DNA deletions in atherosclerotic hypoperfused brain microvessels as a primary target for the development of Alzheimer's disease". Journal of the Neurological Sciences 229-230:285-292.

Alizadeh, A. A., Eisen, M. B., Davis, R. E., Ma, C., Lossos, I. S., et al. (2000). "Distinct types of diffuse large B-cell lymphoma identified by gene expression profiling [see comments]." Nature 403(6769):503-511.

Allan, C. J., Argyropoulos, G., Bowker, M., Zhu, J., Lin, P. M., Stiver, K., Golichowski, A. and Garvey, W. T. (1997). "Gestational diabetes mellitus and gene mutations which affect insulin secretion." Diabetes Research & Clinical Practice 36(3):135-141.

Allard, M. W., Miller, K., Wilson, M., Monson, K. and Budowle, B. (2002). "Characterization of the Caucasian haplogroups present in the SWGDAM forensic mtDNA dataset for 1771 human control region sequences. Scientific Working Group on DNA Analysis Methods." Journal of Forensic Sciences 47(6):1215-1223.

Alonso, A., Martin, P., Albarran, C., Aquilera, B., Garcia, O., Guzman, A., Oliva, H. and Sancho, M. (1997). "Detection of somatic mutations in the mitochondrial DNA control region of colorectal and gastric tumors by heteroduplex and single-strand conformation analysis." Electrophoresis 18(5):682-685.

Alonso, A., Salas, A., Albarran, C., Arroyo, E., Castro, A., et al. (2002). "Results of the 1999-2000 collaborative exercise and proficiency testing program on mitochondrial DNA of the GEP-ISFG: an inter-laboratory study of the observed variability in the heteroplasmy level of hair from the same donor." Forensic Science International 125(1):1-7.

Alston, C. L., Bender, A., Hargreaves, I. P., Mundy, H., Deshpande, C., Klopstock, T., McFarland, R., Horvath, R. and Taylor, R. W. (2010). "The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype." Neuromuscular Disorders 20(6):403-406.

Alston, C. L., He, L., Morris, A. A., Hughes, I., de Goede, C., Turnbull, D. M., McFarland, R. and Taylor, R. W. (2011). "Maternally inherited mitochondrial DNA disease in consanguineous families". European Journal of Human Genetics 19(12):1226-1229.

Alston, C. L., Lowe, J., Turnbull, D. M., Maddison, P. and Taylor, R. W. (2010). "A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle." Journal of the Neurological Sciences 298(1-2):140-144.

Alston, C. L., Morak, M., Reid, C., Hargreaves, I. P., Pope, S. A., Land, J. M., Heales, S. J., Horvath, R., Mundy, H. and Taylor, R. W. (2010). "A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy." Neuromuscular Disorders 20(2):131-135.

Altmann, J., Buchner, B., Nadaj-Pakleza, A., Schafer, J., Jackson, S., Lehmann, D., Deschauer, M., Kopajtich, R., Lautenschlager, R., Kuhn, K. A., Karle, K., Schols, L., Schulz, J. B., Weis, J., Prokisch, H., Kornblum, C., Claeys, K. G. and Klopstock, T. (2016). "Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry." Journal of Neurology 263(5):961-972.

Altunbasak, S., Bingol, G., Ozbarlas, N., Akcoren, Z. and Herguner, O. (1998). "Kearns-Sayre syndrome. A case report." Turkish Journal of Pediatrics 40(2):255-259.

Alvarez-Iglesias, V., Barros, F., Carracedo, A. and Salas, A. (2008). "Minisequencing mitochondrial DNA pathogenic mutations." BMC Medical Genetics 9:26.

Alvarez-Iglesias, V., Mosquera-Miguel, A., Cerezo, M., Quintans, B., Zarrabeitia, M. T., Cusco, I., Lareu, M. V., Garcia, O., Perez-Jurado, L., Carracedo, A. and Salas, A. (2009). "New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0". PLoS ONE 4(4):e5112.

Alvarez, V., Corao, A. I., Sanchez-Ferrero, E., De Mena, L., Alonso-Montes, C., Huerta, C., Blazquez, M., Ribacoba, R., Guisasola, L. M., Salvador, C., Garcia-Castro, M. and Coto, E. (2008). "Mitochondrial transcription factor A (TFAM) gene variation in Parkinson's disease." Neuroscience Letters 432(1):79-82.

Alves-Silva, J., da Silva Santos, M., Guimaraes, P. E., Ferreira, A. C., Bandelt, H. J., Pena, S. D. and Prado, V. F. (2000). "The ancestry of Brazilian mtDNA lineages." American Journal of Human Genetics 67(2):444-461.

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