References of Mitochondrial Interest (M-Z)

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M

Ma, H., Kunes, S., Schatz, P. J. and Botstein, D. (1987). "Plasmid construction by homologous recombination in yeast." Gene 58(2-3):201-216.

Ma, J., Coarfa, C., Qin, X., Bonnen, P. E., Milosavljevic, A., Versalovic, J. and Aagaard, K. (2014). "mtDNA haplogroup and single nucleotide polymorphisms structure human microbiome communities." BMC Genomics 15:257.

Ma, Y. Y., Li, X. Y., Li, Z. Q., Song, J. Q., Hou, J., Li, J. H., Sun, L., Jiang, J. and Yang, Y. L. (2018). "Clinical, biochemical, and genetic analysis of the mitochondrial respiratory chain complex I deficiency." Medicine (Baltimore) 97(32):e11606.

Ma, Y. Y., Wu, T. F., Liu, Y. P., Wang, Q., Li, X. Y., Ding, Y., Song, J. Q., Yang, Y. L. and Zou, L. P. (2015). "A study of 133 Chinese children with mitochondrial respiratory chain complex I deficiency." Clinical Genetics 87(2):179-184.

Maagaard, A., Holberg-Petersen, M., Lovgarden, G., Holm, M., Pettersen, F. O. and Kvale, D. (2008). "Distinct mechanisms for mitochondrial DNA loss in T and B lymphocytes from HIV-infected patients exposed to nucleoside reverse-transcriptase inhibitors and those naive to antiretroviral treatment." The Journal of Infectious Diseases 198(10):1474-1481.

Maarouf, N., Arno, G., Carter, N. D., Syrris, P., Yusuf, S., Camm, A. J., Poleiniki, J. and Al-Saady, N. M. (2004). "Quantification of mitochondrial sublimons in human fibrillating atria." Clinical Science 106(6):653-659.

Maassen, J. A. and Kadowaki, T. (1996). "Maternally inherited diabetes and deafness: a new diabetes subtype." Diabetologia 39(4):375-382.

Maassen, J. A., Biberoglu, S., tHart, L. M., Bakker, E. and de Knijff, P. (2002). "A case of a de novo A3243G mutation in mitochondrial DNA in a patient with diabetes and deafness." Archives of Physiology and Biochemistry 110(3):186-188.

Maassen, J. A., Janssen, G. M. and Lemkes, H. H. (2002). "Mitochondrial diabetes mellitus." Journal of Endocrinological Investigation 25(5):477-484.

Maassen, J. A., tHart, L. M., Van Essen, E., Heine, R. J., Nijpels, G., Jahangir Tafrechi, R. S., Raap, A. K., Janssen, G. M. and Lemkes, H. H. (2004). "Mitochondrial diabetes: molecular mechanisms and clinical presentation." Diabetes 53(1):S103-S109.

Maassen, J. A., van den Ouweland, J. M., tHart, L. M. and Lemkes, H. H. (1997). "Maternally inherited diabetes and deafness: a diabetic subtype associated with a mutation in mitochondrial DNA." Hormone & Metabolic Research 29(2):50-55.

Maasz, A., Komlosi, K., Hadzsiev, K., Szabo, Z., Willems, P. J., Gerlinger, I., Kosztolanyi, G., Mehes, K. and Melegh, B. (2008). "Phenotypic variants of the deafness-associated mitochondrial DNA A7445G mutation." Current Medicinal Chemistry 15(13):1257-1262.

Maca-Meyer, N., Gonzalez, A. M., Larruga, J. M., Flores, C. and Cabrera, V. M. (2001). "Major genomic mitochondrial lineages delineate early human expansions." BMC Genetics 2(1):13.

Maca-Meyer, N., Gonzalez, A. M., Pestano, J., Flores, C., Larruga, J. M. and Cabrera, V. M. (2003). "Mitochondrial DNA transit between West Asia and North Africa inferred from U6 phylogeography." BMC Genetics 4(1):15.

Maca-Meyer, N., Sanchez-Velasco, P., Flores, C., Larruga, J. M., Gonzalez, A. M., Oterino, A. and Leyva-Cobian, F. (2003). "Y chromosome and mitochondrial DNA characterization of Pasiegos, a human isolate from Cantabria (Spain)." Annals of Human Genetics 67(4):329-339.

Macaulay, V. A., Richards, M. B., Forster, P., Bendall, K. E., Watson, E., Sykes, B. and Bandelt, H. J. (1997). "mtDNA mutation rates--no need to panic." American Journal of Human Genetics 61(4):983-990.

Macaulay, V., Hill, C., Achilli, A., Rengo, C., Clarke, D., et al. (2005). "Single, rapid coastal settlement of Asia revealed by analysis of complete mitochondrial genomes." Science 308(5724):1034-1036.

Macaulay, V., Richards, M., Hickey, E., Vega, E., Cruciani, F., Guida, V., Scozzari, R., Bonne-Tamir, B., Sykes, B. and Torroni, A. (1999). "The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs." American Journal of Human Genetics 64(1):232-249.

MacGregor, R. R. (1987). "Alcohol and drugs as co-factors for AIDS." Advances in Alcohol & Substance Abuse 7(2):47-71.

Macho, A., Castedo, M., Marchetti, P., Aguilar, J. J., Decaudin, D., Zamzami, N., Girard, P. M., Uriel, J. and Kroemer, G. (1995). "Mitochondrial dysfunctions in circulating T lymphocytes from human immunodeficiency virus-1 carriers." Blood 86(7):2481-2487.

Mack, S. J. and Erlich, H. A. (1998). "HLA class II polymorphism in the Ticuna of Brazil: evolutionary implications of the DRB10807 allele." Tissue Antigens 51(1):41-50.

Mackey, D. A. (1994). "Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy." Eye 8(Pt 4):431-436.

Mackey, D. A. and Buttery, R. G. (1992). "Leber hereditary optic neuropathy in Australia." Australian and New Zealand Journal of Ophthalmology 20(3):177-184.

Mackey, D. A., Fingert, J. H., Luzhansky, J. Z., McCluskey, P. J., Howell, N., Hall, A. J., Pierce, A. B. and Hoy, J. F. (2003). "Leber's hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus." Eye 17(3):312-317.

Mackey, D. A., Oostra, R. J., Rosenberg, T., Nikoskelainen, E., Bronte-Stewart, J., Poulton, J., Harding, A. E., Govan, G., Bolhuis, P. A. and Norby, S. (1996). "Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy." American Journal of Human Genetics 59(2):481-485.

Mackey, D. and Howell, N. (1992). "A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology." American Journal of Human Genetics 51(6):1218-1228.

Macmillan, C., Kirkham, T., Fu, K., Allison, V., Andermann, E., Chitayat, D., Fortier, D., Gans, M., Hare, H., Quercia, N., Zackon, D. and Shoubridge, E. A. (1998). "Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy." Neurology 50(2):417-422.

Macmillan, C., Lach, B. and Shoubridge, E. A. (1993). "Variable distribution of mutant mitochondrial DNAs (tRNALeu[3243]) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation." Neurology 43(8):1586-1590.

Macreadie, I. G., Novitski, C. E., Maxwell, R. J., John, U., Ooi, B. G., McMullen, G. L., Lukins, H. B., Linnane, A. W. and Nagley, P. (1983). "Biogenesis of mitochondria: the mitochondrial gene (aap1) coding for mitochondrial ATPase subunit 8 in Saccharomyces cerevisiae." Nucleic Acids Research 11(13):4435-4451.

Madden, J. J., Donahoe, R. M., Zwemer-Collins, J., Shafer, D. A. and Falek, A. (1987). "Binding of naloxone to human T lymphocytes." Biochemical Pharmacology 36(23):4103-4109.

Madden, J. J., Ketelsen, D., Whaley, W. L., Donahoe, R. M. and Oleson, D. (1995). "Mitogenic activation of human T lymphocytes induces a high affinity morphine binding site." Advances in Experimental Medicine and Biology 373:37-40.

Madden, J. J., Whaley, W. L. and Ketelsen, D. (1998). "Opiate binding sites in the cellular immune system: expression and regulation." Journal of Neuroimmunology 83(1-2):57-62.

Madsen, C. S., Ghivizzani, S. C. and Hauswirth, W. W. (1993). "Protein binding to a single termination-associated sequence in the mitochondrial DNA D-loop region." Molecular and Cellular Biology 13(4):2162-2171.

Maechler, P. and Wollheim, C. B. (2001). "Mitochondrial function in normal and diabetic beta-cells." Nature 414(6865):807-812.

Maeso, E., Rueda, A., Jimenez, S., Del Hoyo, P., Martin, R., Cabello, A., Mendoza, L. M., Arenas, J. and Campos, Y. (2007). "A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy." Neuromuscular Disorders 17(5):415-418.

Magalhaes, P. J., Andreu, A. L. and Schon, E. A. (1998). "Evidence for the presence of 5S rRNA in mammalian mitochondria." Molecular Biology of the Cell 9(9):2375-2382.

Magnani, M., Fraternale, A., Casabianca, A., Schiavano, G. F., Chiarantini, L., Palamara, A. T., Ciriolo, M. R., Rotilio, G. and Garaci, E. (1997). "Antiretroviral effect of combined zidovudine and reduced glutathione therapy in murine AIDS." AIDS Research and Human Retroviruses 13(13):1093-1099.

Mahapatra, R. K., Mahapatra, D. and Yaden, S. (1987). "Clinical experience with a transdermal nitroglycerin system." Angiology 38(4):277-286.

Mahata, B., Bhattacharyya, S. N., Mukherjee, S. and Adhya, S. (2005). "Correction of translational defects in patient-derived mutant mitochondria by complex-mediated import of a cytoplasmic tRNA." Journal of Biological Chemistry 280(7):5141-5144.

Mahata, B., Mukherjee, S., Mishra, S., Bandyopadhyay, A. and Adhya, S. (2006). "Functional delivery of a cytosolic tRNA into mutant mitochondria of human cells." Science 314(5798):471-474.

Mahato, B., Jash, S. and Adhya, S. (2011). "RNA-mediated restoration of mitochondrial function in cells harboring a Kearns Sayre Syndrome mutation". Mitochondrion 11(4):564-574.

Mahjoub, S., Sternberg, D., Boussaada, R., Filaut, S., Gmira, F., Mechmech, R., Jardel, C. and Arab, S. B. (2007). "A novel mitochondrial DNA tRNAIle (m.4322dupC) mutation associated with idiopathic dilated cardiomyopathy." Diagnostic Molecular Pathology 16(4):238-242.

Maitra, A., Cohen, Y., Gillespie, S. E., Mambo, E., Fukushima, N., Hoque, M. O., Shah, N., Goggins, M., Califano, J., Sidransky, D. and Chakravarti, A. (2004). "The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection." Genome Research 14(5):812-819.

Majamaa-Voltti, K. A., Winqvist, S., Remes, A. M., Tolonen, U., Pyhtinen, J., Uimonen, S., Karppa, M., Sorri, M., Peuhkurinen, K. and Majamaa, K. (2006). "A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA." Neurology 66(10):1470-1475.

Majamaa-Voltti, K., Peuhkurinen, K., Kortelainen, M. L., Hassinen, I. E. and Majamaa, K. (2002). "Cardiac abnormalities in patients with mitochondrial DNA mutation 3243A>G." BMC Cardiovascular Disorders (online) 2(1):12.

Majamaa, K., Finnila, S., Turkka, J. and Hassinen, I. E. (1998). "Mitochondrial DNA haplogroup U as a risk factor for occipital stroke in migraine." Lancet 352(9126):455-456.

Majamaa, K., Moilanen, J. S., Uimonen, S., Remes, A. M., Salmela, P. I., Karppa, M., Majamaa-Voltti, K. A., Rusanen, H., Sorri, M., Peuhkurinen, K. J. and Hassinen, I. E. (1998). "Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population." American Journal of Human Genetics 63(2):447-454.

Majamaa, K., Rusanen, H., Remes, A. and Hassinen, I. E. (1997). "Metabolic interventions against complex I deficiency in MELAS syndrome." Molecular & Cellular Biochemistry 174(1-2):291-296.

Majamaa, K., Turkka, J., Karppa, M., Winqvist, S. and Hassinen, I. E. (1997). "The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct." Neurology 49(5):1331-1334.

Majander, A., Finel, M., Savontaus, M. L., Nikoskelainen, E. and Wikstrom, M. (1996). "Catalytic activity of complex I in cell lines that possess replacement mutations in the ND genes in Leber's hereditary optic neuropathy." European Journal of Biochemistry 239(1):201-207.

Majander, A., Huoponen, K., Savontaus, M. L., Nikoskelainen, E. and Wikstrom, M. (1991). "Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)." FEBS Letters 292(1-2):289-292.

Majander, A., Lamminen, T., Juvonen, V., Aula, P., Nikoskelainen, E., Savontaus, M. L. and Wikstrom, M. (1997). "Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases." FEBS Letters 412(2):351-354.

Majumder, P. P. (2010). "The human genetic history of South Asia." Current Biology 20(4):R184-187.

Majumder, P. P., Roy, B., Banerjee, S., Chakraborty, M., Dey, B., Mukherjee, N., Roy, M., Thakurta, P. G. and Sil, S. K. (1999). "Human-specific insertion/deletion polymorphisms in Indian populations and their possible evolutionary implications." European Journal of Human Genetics 7(4):435-446.

Mak, S. C., Chi, C. S. and Tsai, C. R. (1998). "Mitochondrial DNA 8993 T > C mutation presenting as juvenile Leigh syndrome with respiratory failure." Journal of Child Neurology 13(7):349-351.

Mak, S. C., Chi, C. S., Liu, C. Y., Pang, C. Y. and Wei, Y. H. (1996). "Leigh syndrome associated with mitochondrial DNA 8993 T-->G mutation and ragged-red fibers". Pediatric Neurology 15(1):72-75.

Makela-Bengs, P., Suomalainen, A., Majander, A., Rapola, J., Kalimo, H., Nuutila, A. and Pihko, H. (1995). "Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome." Pediatric Research 37(5):634-639.

Makino, M., Horai, S., Goto, Y. and Nonaka, I. (1998). "Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome." Neuromuscular Disorders 8(3-4):149-151.

Makman, M. H., Dobrenis, K. and Surratt, C. K. (1998). "Properties of mu 3 opiate alkaloid receptors in macrophages, astrocytes, and HL-60 human promyelocytic leukemia cells." Advances in Experimental Medicine and Biology 437:137-148.

Malaisse-Lagae, F. and Malaisse, W. J. (1988). "Hexose metabolism in pancreatic islets: regulation of mitochondrial hexokinase binding." Biochemical Medicine and Metabolic Biology 39(1):80-89.

Malaisse, W. J. (1994). "The beta cell in NIDDM: giving light to the blind." Diabetologia 37:S36-42.

Malcovati, M., Marchetti, T., Zanelli, T. and Tenchini, M. L., Eds. (1991). Flavins and Flavoproteins 1990. Flavins and Flavoproteins 1990. Berlin, Walter de Gruyter & Co.

Malena, A., Loro, E., Di Re, M., Holt, I. J. and Vergani, L. (2009). "Inhibition of mitochondrial fission favours mutant over wild-type mitochondrial DNA". Human Molecular Genetics 18(18):3407-3416.

Malfatti, E., Bugiani, M., Invernizzi, F., de Souza, C. F., Farina, L., Carrara, F., Lamantea, E., Antozzi, C., Confalonieri, P., Sanseverino, M. T., Giugliani, R., Uziel, G. and Zeviani, M. (2007). "Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy." Brain 130(Pt 7):1894-1904.

Malfatti, E., Cardaioli, E., Battisti, C., Da Pozzo, P., Malandrini, A., Rufa, A., Rocchi, R. and Federico, A. (2010). "A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features." Journal of the Neurological Sciences 297(1-2):105-108.

Malgat, M., Letellier, T., Jouaville, S. L. and Mazat, J. P. (1995). "Value of control theory in the study of cellular metabolism -- biomedical implications." Journal of Biological Systems 3(1):165-175.

Malhi, R. S., Breece, K. E., Shook, B. A., Kaestle, F. A., Chatters, J. C., Hackenberger, S. and Smith, D. G. (2004). "Patterns of mtDNA diversity in northwestern North America." Human Biology 76(1):33-54.

Malhi, R. S., Eshleman, J. A., Greenberg, J. A., Weiss, D. A., Schultz Shook, B. A., Kaestle, F. A., Lorenz, J. G., Kemp, B. M., Johnson, J. R. and Smith, D. G. (2002). "The structure of diversity within New World mitochondrial DNA haplogroups: implications for the prehistory of North America." American Journal of Human Genetics 70(4):905-919.

Malhi, R. S., Mortensen, H. M., Eshleman, J. A., Kemp, B. M., Lorenz, J. G., Kaestle, F. A., Johnson, J. R., Gorodezky, C. and Smith, D. G. (2003). "Native American mtDNA prehistory in the American Southwest." American Journal of Physical Anthropology 120(2):108-124.

Malhi, R. S., Schultz, B. A. and Smith, D. G. (2001). "Distribution of mitochondrial DNA lineages among Native American tribes of Northeastern North America." Human Biology 73(1):17-55.

Malik, A. N., Shahni, R., Rodriguez-de-Ledesma, A., Laftah, A. and Cunningham, P. (2011). "Mitochondrial DNA as a non-invasive biomarker: accurate quantification using real time quantitative PCR without co-amplification of pseudogenes and dilution bias". Biochemical and Biophysical Research Communications 412(1):1-7.

Malik, S. G., Pieter, N., Sudoyo, H., Kadir, A. and Marzuki, S. (2003). "Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia." Journal of Human Genetics 48(9):480-483.

Malik, S., Sudoyo, H., Pramoonjago, P., Sukarna, T., Darwis, D. and Marzuki, S. (2002). "Evidence for the de novo regeneration of the pattern of the length heteroplasmy associated with the T16189C variant in the control (D-loop) region of mitochondrial DNA." Journal of Human Genetics 47(3):122-130.

Malik, S., Sudoyo, H., Pramoonjago, P., Suryadi, H., Sukarna, T., Njunting, M., Sahiratmadja, E. and Marzuki, S. (2002). "Nuclear mitochondrial interplay in the modulation of the homopolymeric tract length heteroplasmy in the control (D-loop) region of the mitochondrial DNA." Human Genetics 110(5):402-411.

Malyarchuk, B. A. (1997). "[A mitochondrial portrait of Eastern Slavs]." Genetika 33(1):101-105.

Malyarchuk, B. A. (1997). "[Similarity of geographic distribution of frequencies of p(c) allele of erythrocyte acid phosphatase and BamHI-3/MspI-4 types of mitochondrial DNA in Caucasoid human populations]." Genetika 33(3):393-398.

Malyarchuk, B. A. (1997). "[Distribution of mitochondrial DNA markers in the European populations of Eurasia]." Genetika 33(7):986-991.

Malyarchuk, B. A. (1997). "[The origin of caucasoid BamHI-3/MspI-4 mitochondrial DNA marker]." Genetika 33(12):1669-1674.

Malyarchuk, B. A. (2005). "[Distribution of nucleotide substitutions in human mitochondrial DNA genes]." Genetika 41(1):93-99.

Malyarchuk, B. A. and Derenko, M. V. (1999). "Molecular instability of the mitochondrial haplogroup T sequences at nucleotide positions 16292 and 16296." Annals of Human Genetics 63(Pt 6):489-497.

Malyarchuk, B. A. and Rogozin, I. B. (2004). "Mutagenesis by transient misalignment in the human mitochondrial DNA control region." Annals of Human Genetics 68(Pt 4):324-339.

Malyarchuk, B. A. and Rogozin, I. B. (2004). "On the Etruscan mitochondrial DNA contribution to modern humans." American Journal of Human Genetics 75(5):920-923; author reply 923-927.

Malyarchuk, B., Derenko, M., Denisova, G., Litvinov, A., Rogalla, U., Skonieczna, K., Grzybowski, T., Pentelenyi, K., Guba, Z., Zeke, T. and Molnar, M. J. (2018). "Whole mitochondrial genome diversity in two Hungarian populations." Molecular Genetics and Genomics 293(5):1255-1263.

Malyarchuk, B., Grzybowski, T., Derenko, M., Perkova, M., Vanecek, T., Lazur, J., Gomolcak, P. and Tsybovsky, I. (2008). "Mitochondrial DNA phylogeny in Eastern and Western Slavs." Molecular Biology and Evolution 25(8):1651-1658.

Malyarchuk, B. A., Grzybowski, T., Derenko, M. V., Czarny, J., Drobnic, K. and Miscicka-Sliwka, D. (2003). "Mitochondrial DNA variability in Bosnians and Slovenians." Annals of Human Genetics 67(5):412-425.

Malyarchuk, B. A., Grzybowski, T., Derenko, M. V., Czarny, J., Wozniak, M. and Miscicka-Sliwka, D. (2002). "Mitochondrial DNA variability in Poles and Russians." Annals of Human Genetics 66(4):261-283.

Malyarchuk, B. A., Perkova, M. A., Derenko, M. V., Vanecek, T., Lazur, J. and Gomolcak, P. (2008). "Mitochondrial DNA variability in Slovaks, with application to the Roma origin." Annals of Human Genetics 72(Pt 2):228-240.

Malyarchuk, B. A., Rogozin, I. B., Berikov, V. B. and Derenko, M. V. (2002). "Analysis of phylogenetically reconstructed mutational spectra in human mitochondrial DNA control region." Human Genetics 111(1):46-53.

Mambo, E., Gao, X., Cohen, Y., Guo, Z., Talalay, P. and Sidransky, D. (2003). "Electrophile and oxidant damage of mitochondrial DNA leading to rapid evolution of homoplasmic mutations." Proceedings of the National Academy of Sciences of the United States of America 100(4):1838-1843.

Man, P. Y., Griffiths, P. G., Brown, D. T., Howell, N., Turnbull, D. M. and Chinnery, P. F. (2003). "The epidemiology of Leber hereditary optic neuropathy in the North East of England." American Journal of Human Genetics 72(2):333-339.

Man, P. Y., Howell, N., Mackey, D. A., Norby, S., Rosenberg, T., Turnbull, D. M. and Chinnery, P. F. (2004). "Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees." Journal of Medical Genetics 41(4):e41.

Man, P. Y., Morris, C. M., Zeviani, M., Carrara, F., Turnbull, D. M. and Chinnery, P. F. (2003). "The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy." Journal of Medical Genetics 40(4):e41.

Man, P. Y., Turnbull, D. M. and Chinnery, P. F. (2002). "Leber hereditary optic neuropathy." Journal of Medical Genetics 39(3):162-169.

Mancini, M., Nicholson, D. W., Roy, S., Thornberry, N. A., Peterson, E. P., Casciola-Rosen, L. A. and Rosen, A. (1998). "The caspase-3 precursor has a cytosolic and mitochondrial distribution: implications for apoptotic signaling." Journal of Cell Biology 140(6):1485-1495.

Mancuso, M., Bianchi, M. C., Santorelli, F. M., Tessa, A., Casali, C., Murri, L. and Siciliano, G. (1999). "Encephalomyopathy with multiple mitochondrial DNA deletions and multiple symmetric lipomatosis: further evidence of a possible association." Journal of Neurology 246(12):1197-1198.

Mancuso, M., Conforti, F. L., Rocchi, A., Tessitore, A., Muglia, M., et al. (2004). "Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?" Neuroscience Letters 371(2-3):158-162.

Mancuso, M., Ferraris, S., Nishigaki, Y., Azan, G., Mauro, A., Sammarco, P., Krishna, S., Tay, S. K., Bonilla, E., Romansky, S. G., Hirano, M. and DiMauro, S. (2005). "Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation." Journal of the Neurological Sciences 228(1):93-97.

Mancuso, M., Filosto, M., Bonilla, E., Hirano, M., Shanske, S., Vu, T. H. and DiMauro, S. (2003). "Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene." Archives of Neurology 60(7):1007-1009.

Mancuso, M., Filosto, M., Stevens, J. C., Patterson, M., Shanske, S., Krishna, S. and DiMauro, S. (2003). "Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene." Journal of the Neurological Sciences 209(1-2):61-63.

Mancuso, M., Filosto, M., Tsujino, S., Lamperti, C., Shanske, S., Coquet, M., Desnuelle, C. and DiMauro, S. (2003). "Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes." Archives of Neurology 60(10):1445-1447.

Mancuso, M., Kiferle, L., Petrozzi, L., Nesti, C., Rocchi, A., Ceravolo, R., Orsucci, D., Maluccio, M. R., Bonuccelli, U., Filosto, M., Siciliano, G. and Murri, L. (2008). "Mitochondrial DNA haplogroups do not influence the Huntington's disease phenotype". Neuroscience Letters 444(1):83-86.

Mancuso, M., Nardini, M., Micheli, D., Rocchi, A., Nesti, C., Giglioli, N. J., Petrozzi, L., Rossi, C., Ceravolo, R., Bacci, A., Choub, A., Ricci, G., Tognoni, G., Manca, M. L., Siciliano, G. and Murri, L. (2007). "Lack of association between mtDNA haplogroups and Alzheimer's disease in Tuscany." Neurological Sciences 28(3):142-147.

Mancuso, M., Nesti, C., Ienco, E. C., Orsucci, D., Pizzanelli, C., Chiti, A., Giorgi, F. S., Meschini, M. C., Fontanini, G., Santorelli, F. M., Logerfo, A., Romano, A., Siciliano, G. and Bonuccelli, U. (2014). "Novel MTCYB mutation in a young patient with recurrent stroke-like episodes and status epilepticus." American Journal of Medical Genetics. Part A 164(11):2922-2925.

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Topic revision: r28 - 03 Jun 2019, MarieLott

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