Hadassah Medical Center: Saada Reisch Ann

1.

Hazan R, Lintzer D, Ziv T, Das K, Rosenhek-Goldian I, Porat Z, et al. Mitochondrial-derived vesicles retain membrane potential and contain a functional ATP synthase. EMBO Reports [Internet]. 2023;24(5). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85150787522&doi=10.15252%252fembr.202256114&partnerID=40&md5=7232f85be9a2ab2b82bca3356bc2411c

2.

Sweetat S, Nitzan K, Suissa N, Haimovich Y, Lichtenstein M, Zabit S, et al. The Beneficial Effect of Mitochondrial Transfer Therapy in 5XFAD Mice via Liver–Serum–Brain Response. Cells [Internet]. 2023;12(7). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85152343015&doi=10.3390%252fcells12071006&partnerID=40&md5=1ee1606a18c9fbdada876e99d8018d61

3.

Daas S, Abu Salah N, Anikster Y, Barel O, Damseh NS, Dumin E, et al. Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia. Journal of Inherited Metabolic Disease [Internet]. 2023;46(2):232–42. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85144312720&doi=10.1002%252fjimd.12580&partnerID=40&md5=6c0d1359ea757e4d3e96fdc03034e9df

4.

McCormick EM, Keller K, Taylor JP, Coffey AJ, Shen L, Krotoski D, et al. Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum. Annals of Neurology [Internet]. 2023; Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85167712822&doi=10.1002%252fana.26716&partnerID=40&md5=fe47a3ac189e65f20ebe6602b1f086dd

5.

Zighan M, Arkadir D, Douiev L, Keller G, Miller C, Saada A. Variable effects of omaveloxolone (RTA408) on primary fibroblasts with mitochondrial defects. Frontiers in Molecular Biosciences [Internet]. 2022;9. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85137002591&doi=10.3389%252ffmolb.2022.890653&partnerID=40&md5=085a7d1adffd903bd376301040f79d77

6.

Douiev L, Miller C, Keller G, Benyamini H, Abu‐libdeh B, Saada A. Replicative Stress Coincides with Impaired Nuclear DNA Damage Response in COX4‐1 Deficiency. International Journal of Molecular Sciences [Internet]. 2022;23(8). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85127730979&doi=10.3390%252fijms23084149&partnerID=40&md5=cdbe6be64f7233e61a4beb05677efa9c

7.

Aharon-Hananel G, Romero-Afrima L, Saada A, Mantzur C, Raz I, Weksler-Zangen S. Cytochrome c Oxidase Activity as a Metabolic Regulator in Pancreatic Beta-Cells. Cells [Internet]. 2022;11(6). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85127027150&doi=10.3390%252fcells11060929&partnerID=40&md5=7b01f3372c43d4af2dbc70cc3dc75680

8.

Ezer S, Daana M, Park JH, Yanovsky-Dagan S, Nordstrom U, Basal A, et al. Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity. Brain [Internet]. 2022;145(3):872–8. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85129780082&doi=10.1093%252fbrain%252fawab416&partnerID=40&md5=a158d93aa7dd96180e628c456e0f6f1a

9.

Mishra K, Péter M, Nardiello AM, Keller G, Llado V, Fernandez-Garcia P, et al. Multifaceted Analyses of Isolated Mitochondria Establish the Anticancer Drug 2-Hydroxyoleic Acid as an Inhibitor of Substrate Oxidation and an Activator of Complex IV-Dependent State 3 Respiration. Cells [Internet]. 2022;11(3). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85124012087&doi=10.3390%252fcells11030578&partnerID=40&md5=bffaea41e324346a6d14d1865c612b58

10.

Liber S, Staretz-Chacham O, Kishon M, Pode-Shakked B, Chorin O, Kneller K, et al. What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel? Molecular Syndromology [Internet]. 2022;13(1):45–9. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85121543312&doi=10.1159%252f000519099&partnerID=40&md5=fa92200554dd0cffebe53063541d320d

11.

Binyamin O, Frid K, Keller G, Saada A, Gabizon R. Comparing anti–aging hallmark activities of Metformin and Nano-PSO in a mouse model of genetic Creutzfeldt-Jakob Disease. Neurobiology of Aging [Internet]. 2022;110:77–87. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85120616965&doi=10.1016%252fj.neurobiolaging.2021.11.001&partnerID=40&md5=4b0165bb1f2eb3335e940dff278a56cc

12.

Staretz-Chacham O, Amar S, Almashanu S, Pode-Shakked B, Saada A, Wormser O, et al. Multiple acyl-coa dehydrogenase deficiency with variable presentation due to a homozygous mutation in a bedouin tribe. Genes [Internet]. 2021;12(8). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85111747081&doi=10.3390%252fgenes12081140&partnerID=40&md5=044f987a2c1850d8c6eb29f5f1f66f9e

13.

Nasca A, Di Meo I, Fellig Y, Saada A, Elpeleg O, Ghezzi D, et al. A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy. Journal of Human Genetics [Internet]. 2021;66(8):835–40. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85101282801&doi=10.1038%252fs10038-020-00897-4&partnerID=40&md5=947c8ccd94a2718cae4673afce1d906f

14.

Staretz-Chacham O, Daas S, Ulanovsky I, Blau A, Rostami N, Saraf-Levy T, et al. The role of orotic acid measurement in routine newborn screening for urea cycle disorders. Journal of Inherited Metabolic Disease [Internet]. 2021;44(3):606–17. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85096927181&doi=10.1002%252fjimd.12331&partnerID=40&md5=822163c53f21a5fd865647d87ba3c180

15.

Zehavi Y, Saada A, Jabaly-Habib H, Dessau M, Shaag A, Elpeleg O, et al. A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment. Metabolic Brain Disease [Internet]. 2021;36(4):581–8. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85100088294&doi=10.1007%252fs11011-021-00671-1&partnerID=40&md5=36ee76582076813bf7cdcd182e7b6d71

16.

Hershkovitz T, Kurolap A, Tal G, Paperna T, Mory A, Staples J, et al. A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes. Molecular Genetics and Metabolism Reports [Internet]. 2021;26. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85098594211&doi=10.1016%252fj.ymgmr.2020.100699&partnerID=40&md5=bd74761eb03a9a054a3dfa707a336a01

17.

Douiev L, Miller C, Ruppo S, Benyamini H, Abu-Libdeh B, Saada A. Upregulation of cox4-2 via hif-1α in mitochondrial cox4-1 deficiency. Cells [Internet]. 2021;10(2):1–16. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85102607330&doi=10.3390%252fcells10020452&partnerID=40&md5=4c3072668f7fb77d08f9218ae65223b9

18.

Mor-Shaked H, Paz-Ebstein E, Basal A, Ben-Haim S, Grobe H, Heymann S, et al. Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing. Brain Communications [Internet]. 2021;3(3). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85133870706&doi=10.1093%252fbraincomms%252ffcab197&partnerID=40&md5=555785dddbe1f1637322d6d2e016dc3c

19.

Ferreira CR, Rahman S, Keller M, Zschocke J, Abdenur J, Ali H, et al. An international classification of inherited metabolic disorders (ICIMD). Journal of Inherited Metabolic Disease [Internet]. 2021;44(1):164–77. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85101896221&doi=10.1002%252fjimd.12348&partnerID=40&md5=01c3cb9ad98b88e632122f59ae529ae8

20.

Erental A, Kalderon Z, Saada A, Smith Y, Engelberg-Kulka H. Erratum: Correction for Erental et al., “Apoptosis-Like Death, an Extreme SOS Response in Escherichia coli” (mBio (2014) 5 4 (e01426-e01414) PII: e03040-20). mBio [Internet]. 2020;11(6). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85098533823&doi=10.1128%252fmBio.03040-20&partnerID=40&md5=1d9ffb7238be72edb1e30ed0eea12e14

21.

Mreisat A, Kanaani H, Saada A, Horowitz M. Heat acclimation mediated cardioprotection is controlled by mitochondrial metabolic remodeling involving HIF-1α. Journal of Thermal Biology [Internet]. 2020;93. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85090559858&doi=10.1016%252fj.jtherbio.2020.102691&partnerID=40&md5=5cdb4483149f930a4e6d2c894e1f31d1

22.

Douiev L, Sheffer R, Horvath G, Saada A. Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells. Cells [Internet]. 2020;9(2). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85094834642&doi=10.3390%252fcells9020301&partnerID=40&md5=487abd0272dbdf945a7505f586d0fdc2

23.

Bennett MJ, Sheng F, Saada A. Biochemical assays of TCA cycle and β-oxidation metabolites. Methods in Cell Biology [Internet]. 2020;155:83–120. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85078624004&doi=10.1016%252fbs.mcb.2019.11.021&partnerID=40&md5=2a0755605f2fdc72e98b9b52a8d278ac

24.

Tarailo-Graovac M, Zahir FR, Zivkovic I, Moksa M, Selby K, Sinha S, et al. De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy. Molecular Genetics and Genomic Medicine [Internet]. 2019;7(10). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85071494574&doi=10.1002%252fmgg3.961&partnerID=40&md5=4ca0ab34e48c8aaaca6d1b98ff3c4793

25.

Shalata A, Edery M, Habib C, Genizi J, Mahroum M, Khalaily L, et al. Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature. Neurochemical Research [Internet]. 2019;44(10):2372–84. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85064346921&doi=10.1007%252fs11064-019-02786-5&partnerID=40&md5=0ebd7c651881e2212a4bbe4c59537bcb

26.

Saada A. Insights into deoxyribonucleoside therapy for mitochondrial TK2 deficient mtDNA depletion. EBioMedicine [Internet]. 2019;47:14–5. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85070185897&doi=10.1016%252fj.ebiom.2019.08.005&partnerID=40&md5=cdfd273a60668c56e7219f62f6517f9b

27.

Hershkovitz T, Kurolap A, Gonzaga-Jauregui C, Paperna T, Mory A, Wolf SE, et al. A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4. Journal of Human Genetics [Internet]. 2019;64(6):589–95. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85063398066&doi=10.1038%252fs10038-019-0592-6&partnerID=40&md5=1492dd3807910172be340af3d8f4b4f4

28.

Zehavi Y, Mandel H, Eran A, Ravid S, Abu Rashid M, Jansen EEW, et al. Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review. Metabolic Brain Disease [Internet]. 2019;34(2):557–63. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85060086548&doi=10.1007%252fs11011-019-0384-x&partnerID=40&md5=04b3e8bcea9f3068dfc766f1e69150e6

29.

Keller G, Binyamin O, Frid K, Saada A, Gabizon R. Mitochondrial dysfunction in preclinical genetic prion disease: A target for preventive treatment? Neurobiology of Disease [Internet]. 2019;124:57–66. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85056595323&doi=10.1016%252fj.nbd.2018.11.003&partnerID=40&md5=718b7ac0f02b156e22a3ad17c621ec73

30.

Nitzan K, Benhamron S, Valitsky M, Kesner EE, Lichtenstein M, Ben-Zvi A, et al. Mitochondrial Transfer Ameliorates Cognitive Deficits, Neuronal Loss, and Gliosis in Alzheimer’s Disease Mice. Journal of Alzheimer’s disease : JAD [Internet]. 2019;72(2):587–604. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85075812542&doi=10.3233%252fJAD-190853&partnerID=40&md5=2b4b969bdbd98efcb1dddabc2cd36955

31.

Saada A. Sea squirt alternative oxidase bypasses fatal mitochondrial heart disease. EMBO Molecular Medicine [Internet]. 2019;11(1). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85058323714&doi=10.15252%252femmm.201809962&partnerID=40&md5=90cf69a4c6c5f18ec25ed370130f84f0

32.

Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, et al. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nature Communications [Internet]. 2018;9(1). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85054370449&doi=10.1038%252fs41467-018-06250-w&partnerID=40&md5=7902b5ba8ab5c03465c31c5760906e1f

33.

Brzezinski A, Saada A, Miller H, Brzezinski-Sinai N, Ben-Meir A. Is the aging human ovary still ticking?: Expression of clock-genes in luteinized granulosa cells of young and older women. Journal of Ovarian Research [Internet]. 2018;11(1). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85056932382&doi=10.1186%252fs13048-018-0471-3&partnerID=40&md5=b7c2921bacbced01f2254f206e73d35f

34.

Shufaro Y, Saada A, Simeonov M, Tsuberi BZ, Alban C, Kogot-Levin A, et al. The influence of in vivo exposure to nonylphenol ethoxylate 10 (NP-10) on the ovarian reserve in a mouse model. Reproductive Toxicology [Internet]. 2018;81:246–52. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85052875263&doi=10.1016%252fj.reprotox.2018.08.020&partnerID=40&md5=735dbc87903795d6315ec335f85c652c

35.

Douiev L, Saada A. The pathomechanism of cytochrome c oxidase deficiency includes nuclear DNA damage. Biochimica et Biophysica Acta - Bioenergetics [Internet]. 2018;1859(9):893–900. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85048513669&doi=10.1016%252fj.bbabio.2018.06.004&partnerID=40&md5=5a21097b49e8eb976bf8adefdc6945b5

36.

Khateb S, Kowalewski B, Bedoni N, Damme M, Pollack N, Saada A, et al. A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. Genetics in Medicine [Internet]. 2018;20(9):1004–12. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85042758889&doi=10.1038%252fgim.2017.227&partnerID=40&md5=aba98eb86cece27643ce044a7d48cc02

37.

Israeli T, Riahi Y, Saada A, Yefet D, Cerasi E, Tirosh B, et al. Opposing effects of intracellular versus extracellular adenine nucleotides on autophagy: Implications for β-cell function. Journal of Cell Science [Internet]. 2018;131(15). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85051602415&doi=10.1242%252fjcs.212969&partnerID=40&md5=945405579322f05c0b79b5c18e310714

38.

Bigelman E, Cohen L, Aharon-Hananel G, Levy R, Rozenbaum Z, Saada A, et al. Pathological presentation of cardiac mitochondria in a rat model for chronic kidney disease. PLoS ONE [Internet]. 2018;13(6). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85048346804&doi=10.1371%252fjournal.pone.0198196&partnerID=40&md5=9d67203ea197aacb536f0f2e57eccb09

39.

Witters P, Saada A, Honzik T, Tesarova M, Kleinle S, Horvath R, et al. Revisiting mitochondrial diagnostic criteria in the new era of genomics. Genetics in Medicine [Internet]. 2018;20(4):444–51. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85045209287&doi=10.1038%252fgim.2017.125&partnerID=40&md5=e661c0a4a39ee538c57731e785d3b183

40.

Douiev L, Abu-Libdeh B, Saada A. Cytochrome c oxidase deficiency, oxidative stress, possible antioxidant therapy and link to nuclear DNA damage. European Journal of Human Genetics [Internet]. 2018;26(4):579–81. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85041603175&doi=10.1038%252fs41431-017-0047-5&partnerID=40&md5=d5c880a4e004777e458a8f20366a6e4b

41.

Cohen I, Staretz-Chacham O, Wormser O, Perez Y, Saada A, Kadir R, et al. A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion. American Journal of Medical Genetics, Part A [Internet]. 2018;176(2):330–6. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85040731996&doi=10.1002%252fajmg.a.38574&partnerID=40&md5=e43c5caab7c55a86a8e074c0399c7c11

42.

Abu-Libdeh B, Douiev L, Amro S, Shahrour M, Ta-Shma A, Miller C, et al. Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia. European Journal of Human Genetics [Internet]. 2017;25(10):1142–11146. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85034018971&doi=10.1038%252fejhg.2017.112&partnerID=40&md5=d9de5eee67ee2f8f0c541a50216539b3

43.

Yu-Wai-Man P, Soiferman D, Moore DG, Burté F, Saada A. Evaluating the therapeutic potential of idebenone and related quinone analogues in Leber hereditary optic neuropathy. Mitochondrion [Internet]. 2017;36:36–42. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85010206571&doi=10.1016%252fj.mito.2017.01.004&partnerID=40&md5=3f5aef85ad8e8bcd0f3abfb93e85e2fa

44.

Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, et al. Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. Clinical Genetics [Internet]. 2017;91(5):690–6. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84991238507&doi=10.1111%252fcge.12855&partnerID=40&md5=0e5753fe0035534a3a80fbbe930450a5

45.

Volpert G, Ben-Dor S, Tarcic O, Duan J, Saada A, Merrill Jr AH, et al. Oxidative stress elicited by modifying the ceramide acyl chain length reduces the rate of clathrin-mediated endocytosis. Journal of Cell Science [Internet]. 2017;130(8):1486–93. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85017533975&doi=10.1242%252fjcs.199968&partnerID=40&md5=a5b24c0a891274d57e71c04c998ca053

46.

Alban C, Fatale E, Joulani A, Ilin P, Saada A. The relationship between mitochondrial respiratory chain activities in muscle and metabolites in plasma and urine: A retrospective study. Journal of Clinical Medicine [Internet]. 2017;6(3). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85034110722&doi=10.3390%252fjcm6030031&partnerID=40&md5=d2332ab4c16cdf20326e9834cee77b78

47.

Douiev L, Soiferman D, Alban C, Saada A. The effects of ascorbate, N-acetylcysteine, and resveratrol on fibroblasts from patients with mitochondrial disorders. Journal of Clinical Medicine [Internet]. 2017;6(1). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85067220151&doi=10.3390%252fjcm6010001&partnerID=40&md5=21c677b2a926468979dd52bed44f264f

48.

Spiegel R, Soiferman D, Shaag A, Shalev S, Elpeleg O, Saada A. Novel homozygous missense mutation in spg20 gene results in troyer syndrome associated with mitochondrial cytochrome c oxidase deficiency. JIMD Reports [Internet]. 2017;33:55–60. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85034202499&doi=10.1007%252f8904_2016_580&partnerID=40&md5=c013f0c06ad9797e05ca93f343044e7e

49.

Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, et al. Erratum: Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number (American Journal of Human Genetics (2016) 99(4) (860–876) (S0002929716303391) (10.1016/j.ajhg.2016.08.014)). American Journal of Human Genetics [Internet]. 2016;99(6):1405. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85003955358&doi=10.1016%252fj.ajhg.2016.11.001&partnerID=40&md5=d32ae6388960f14545123b9fb4bcfced

50.

Zeharia A, Friedman JR, Tobar A, Saada A, Konen O, Fellig Y, et al. Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit. European Journal of Human Genetics [Internet]. 2016;24(12):1778–82. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84980319593&doi=10.1038%252fejhg.2016.83&partnerID=40&md5=88cb5ebf78c800a41799bd5c414e0450

51.

Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, et al. Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. American Journal of Human Genetics [Internet]. 2016;99(4):860–76. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84991735971&doi=10.1016%252fj.ajhg.2016.08.014&partnerID=40&md5=9d866e01f448a2d70b05e264e67bf5b5

52.

Kacso G, Ravasz D, Doczi J, Németh B, Madgar O, Saada A, et al. Two transgenic mouse models for beta subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations. Biochemical Journal [Internet]. 2016;473(20):3463–85. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84992561377&doi=10.1042%252fBCJ20160594&partnerID=40&md5=a1a1beee41255b21bc0de76e816d263d

53.

Kogot-Levin A, Saada A, Leibowitz G, Soiferman D, Douiev L, Raz I, et al. Upregulation of mitochondrial content in cytochrome c oxidase deficient fibroblasts. PLoS ONE [Internet]. 2016;11(10). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84992366073&doi=10.1371%252fjournal.pone.0165417&partnerID=40&md5=91409610e93f9fcb01157dc8f939b08b

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Imagawa E, Fattal-Valevski A, Eyal O, Miyatake S, Saada A, Nakashima M, et al. Homozygous p.V116∗ mutation in C12orf65 results in Leigh syndrome. Journal of Neurology, Neurosurgery and Psychiatry [Internet]. 2016;87(2):212–6. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84958875263&doi=10.1136%252fjnnp-2014-310084&partnerID=40&md5=701eb144bc2d3087e5a3834cf0a9c3e6

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Spiegel R, Saada A, Flannery PJ, Burté F, Soiferman D, Khayat M, et al. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. Journal of Medical Genetics [Internet]. 2016;53(2):127–31. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84958964739&doi=10.1136%252fjmedgenet-2015-103361&partnerID=40&md5=7cc735e695a8fbe2b7bcba58420fbc28

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Soiferman D, Saada A. The Use of Fibroblasts from Patients with Inherited Mitochondrial Disorders for Pathomechanistic Studies and Evaluation of Therapies [Internet]. The Functions, Disease-Related Dysfunctions, and Therapeutic Targeting of Neuronal Mitochondria. 2015. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85017365599&doi=10.1002%252f9781119017127.ch18&partnerID=40&md5=cb86181f9d6abd5ec8356e789318c72f

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Ben-Meir A, Yahalomi S, Moshe B, Shufaro Y, Reubinoff B, Saada A. Coenzyme Q-dependent mitochondrial respiratory chain activity in granulosa cells is reduced with aging. Fertility and Sterility [Internet]. 2015;104(3):724–7. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84940725346&doi=10.1016%252fj.fertnstert.2015.05.023&partnerID=40&md5=3d31a10e52c08affb5aec3d2b3e03c13

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Edvardson S, Gerhard F, Jalas C, Lachmann J, Golan D, Saada A, et al. Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients. Journal of Medical Genetics [Internet]. 2015;52(11):749–53. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84954378852&doi=10.1136%252fjmedgenet-2015-103239&partnerID=40&md5=60ef4a13598879bc643ef7183101b6e3

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Haziza S, Magnani R, Lan D, Keinan O, Saada A, Hershkovitz E, et al. Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. PLoS Genetics [Internet]. 2015;11(8). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84940739271&doi=10.1371%252fjournal.pgen.1005388&partnerID=40&md5=5bb1d5e725d871555c75109bd7d7d2b6

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Park WJ, Brenner O, Kogot-Levin A, Saada A, Merrill Jr AH, Pewzner-Jung Y, et al. Development of pheochromocytoma in ceramide synthase 2 null mice. Endocrine-Related Cancer [Internet]. 2015;22(4):623–32. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84940105531&doi=10.1530%252fERC-15-0058&partnerID=40&md5=5cebab66d9cf3f363e8b04e71431d93c

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Stolovich-Rain M, Enk J, Vikesa J, Nielsen FC, Saada A, Glaser B, et al. Erratum to Weaning Triggers a Maturation Step of Pancreatic β Cells [Developmental Cell 32 (2015) 535-545] DOI: 10.1016/j.devcel.2015.04.003. Developmental Cell [Internet]. 2015;33(2):238–9. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84928035610&doi=10.1016%252fj.devcel.2015.04.003&partnerID=40&md5=68d9338e13ee912493708b00dbacb413

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Stolovich-Rain M, Enk J, Vikesa J, Nielsen F, Saada A, Glaser B, et al. Weaning Triggers a Maturation Step of Pancreatic β Cells. Developmental Cell [Internet]. 2015;32(5):535–45. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84924314941&doi=10.1016%252fj.devcel.2015.01.002&partnerID=40&md5=a2bcf682efe521756bc30cbf4ee69fa4

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Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, et al. Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. American Journal of Human Genetics [Internet]. 2014;95(6):708–20. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84919678076&doi=10.1016%252fj.ajhg.2014.10.017&partnerID=40&md5=71ceaadffb90432134011aa3419fec43

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Vainer GW, Saada A, Kania-Almog J, Amartely A, Bar-Tana J, Hertz R. PF-4708671 activates AMPK independently of p70S6K1 inhibition. PLoS ONE [Internet]. 2014;9(9). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84929941964&doi=10.1371%252fjournal.pone.0107364&partnerID=40&md5=4f9f193786149cdd08213e2536015b3b

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Erental A, Kalderon Z, Saada A, Smith Y, Engelberg-Kulka H. Apoptosis-Like Death, An extreme SOS response in Escherichia Coli. mBio [Internet]. 2014;5(4). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84908288865&doi=10.1128%252fmBio.01426-14&partnerID=40&md5=9985fe7b647b45192a0936a293e393e7

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Haviv R, Zeharia A, Belaiche C, Haimi Cohen Y, Saada A. Elevated plasma citrulline: Look for dihydrolipoamide dehydrogenase deficiency. European Journal of Pediatrics [Internet]. 2014;173(2):243–5. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84897589003&doi=10.1007%252fs00431-013-2153-x&partnerID=40&md5=4e7c765003a02a67bbce7c50f876316a

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Tornovsky-Babeay S, Dadon D, Ziv O, Tzipilevich E, Kadosh T, Schyr-Ben Haroush R, et al. Type 2 diabetes and congenital hyperinsulinism cause DNA double-strand breaks and p53 activity in β cells. Cell Metabolism [Internet]. 2014;19(1):109–21. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84891854946&doi=10.1016%252fj.cmet.2013.11.007&partnerID=40&md5=5a0ae7ec03729c269867e66184356a2c

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Almagor Y, Eventov-Friedman S, Nir A, Sror A, Saada A. Measurement of troponin-T in dried blood spots and dried plasma spots: A pilot study. Journal of Pediatric Biochemistry [Internet]. 2014;4(3):153–7. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84907914559&doi=10.3233%252fJPB-140120&partnerID=40&md5=4fbbaacea8be3d54f12c0c7c3925923b

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Erlich TH, Yagil Z, Kay G, Peretz A, Migalovich-Sheikhet H, Tshori S, et al. Mitochondrial STAT3 plays a major role in IgE-antigen-mediated mast cell exocytosis. Journal of Allergy and Clinical Immunology [Internet]. 2014;134(2):460-469.e10. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84905568336&doi=10.1016%252fj.jaci.2013.12.1075&partnerID=40&md5=6ea0dd36375de5ba16867f053e91c496

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Spiegel R, Mandel H, Saada A, Lerer I, Burger A, Shaag A, et al. Delineation of C12orf65-related phenotypes: A genotype-phenotype relationship. European Journal of Human Genetics [Internet]. 2014;22(8):1019–25. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84904676315&doi=10.1038%252fejhg.2013.284&partnerID=40&md5=2a048504b59fc68157e93b0f01cbb6f4

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Spiegel R, Saada A, Halvardson J, Soiferman D, Shaag A, Edvardson S, et al. Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy. European Journal of Human Genetics [Internet]. 2014;22(7):902–6. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84902314403&doi=10.1038%252fejhg.2013.269&partnerID=40&md5=3708e9093f7538677e25a32cac232ccc

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Van Scherpenzeel M, Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, et al. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. Brain [Internet]. 2014;137(4):1030–8. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84897585843&doi=10.1093%252fbrain%252fawu019&partnerID=40&md5=81fb028cfa8b2b5c0d1de35c77a0b302

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Soiferman D, Ayalon O, Weissman S, Saada A. The effect of small molecules on nuclear-encoded translation diseases. Biochimie [Internet]. 2014;100(1):184–91. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84897059982&doi=10.1016%252fj.biochi.2013.08.024&partnerID=40&md5=29ec60112d2e49963877a63c2442adf8

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Negari SBH, Aouizerat T, Tenenbaum A, Cohen-Cymberknoh M, Shoseyov D, Kerem E, et al. Mitochondrial OXPHOS function is unaffected by chronic azithromycin treatment. Journal of Cystic Fibrosis [Internet]. 2013;12(6):682–7. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84888069681&doi=10.1016%252fj.jcf.2013.04.006&partnerID=40&md5=d09db617865c6b95e7e7da1fc7d185ae

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Park WJ, Park JW, Erez-Roman R, Kogot-Levin A, Bame JR, Tirosh B, et al. Protection of a ceramide synthase 2 null mouse from drug-induced liver injury role of gap junction dysfunction and connexin 32 mislocalization. Journal of Biological Chemistry [Internet]. 2013;288(43):30904–16. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84886687848&doi=10.1074%252fjbc.M112.448852&partnerID=40&md5=98b5f3136807a2f86b74cd236be03a4e

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Sarig O, Goldsher D, Nousbeck J, Fuchs-Telem D, Cohen-Katsenelson K, Iancu TC, et al. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1. American Journal of Medical Genetics, Part A [Internet]. 2013;161(9):2204–15. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84881665541&doi=10.1002%252fajmg.a.36059&partnerID=40&md5=d3c71e2114f29b01e6ca307421f2c420

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Chowers I, Kerrison JB, Reisch AS. Mitochondrial and peroxisomal disorders [Internet]. Pediatric Retina: Second Edition. 2013. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84973863169&partnerID=40&md5=e2791c38dd38e52fdd43606ff7bdb97c

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Stepensky P, Saada A, Cowan M, Tabib A, Fischer U, Berkun Y, et al. The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. Blood [Internet]. 2013;121(25):5078–87. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84882432632&doi=10.1182%252fblood-2012-12-475566&partnerID=40&md5=378133105a172530b869baef9033c88c

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Marcus D, Lichtenstein M, Saada A, Lorberboum-Galski H. Replacement of the C6oRF66 assembly factor (NDUFAF4) restores complex I activity in patient cells. Molecular Medicine [Internet]. 2013;19(1):124–34. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84878780818&doi=10.2119%252fmolmed.2012.00343&partnerID=40&md5=9faec8e616d2a39a39af0776f42f4829

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Weksler-Zangen S, Jörns A, Tarsi-Chen L, Vernea F, Aharon-Hananel G, Saada A, et al. Dietary copper supplementation restores β-cell function of Cohen diabetic rats: A link between mitochondrial function and glucose-stimulated insulin secretion. American Journal of Physiology - Endocrinology and Metabolism [Internet]. 2013;304(10):E1023–34. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84878614383&doi=10.1152%252fajpendo.00036.2013&partnerID=40&md5=41583770ed609b5897b75de1b7575ce1

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Saada A. Complex subunits and assembly genes: Complex i [Internet]. Vol. 9781461437222, Mitochondrial Disorders Caused by Nuclear Genes. 2013. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84949180210&doi=10.1007%252f978-1-4614-3722-2_12&partnerID=40&md5=2b55293db3a72ef9144435e23b1369af

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Zigdon H, Kogot-Levin A, Park JW, Goldschmidt R, Kelly S, Merrill Jr. AH, et al. Ablation of ceramide synthase 2 causes chronic oxidative stress due to disruption of the mitochondrial respiratory chain. Journal of Biological Chemistry [Internet]. 2013;288(7):4947–56. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84874086182&doi=10.1074%252fjbc.M112.402719&partnerID=40&md5=27fdd6e4a7acb43c227c365f55c0e0a0

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Edvardson S, Porcelli V, Jalas C, Soiferman D, Kellner Y, Shaag A, et al. Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. Journal of Medical Genetics [Internet]. 2013;50(4):240–5. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84878851926&doi=10.1136%252fjmedgenet-2012-101485&partnerID=40&md5=8849352b800591ee603e326034bc5ec4

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Assayag M, Saada A, Gerstenblith G, Canaana H, Shlomai R, Horowitz M. Mitochondrial performance in heat acclimation-A lesson from ischemia/reperfusion and calcium overload insults in the heart. American Journal of Physiology - Regulatory Integrative and Comparative Physiology [Internet]. 2012;303(8):R870–81. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84867701235&doi=10.1152%252fajpregu.00155.2012&partnerID=40&md5=70b634691e645c05876893f1f4178eee

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Ohlenbusch A, Edvardson S, Skorpen J, Bjornstad A, Saada A, Elpeleg O, et al. Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency. Orphanet Journal of Rare Diseases [Internet]. 2012;7(1). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84866497654&doi=10.1186%252f1750-1172-7-69&partnerID=40&md5=1d339d4b36b0539ac7ffafb97720dcd2

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Spiegel R, Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J, et al. Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. American Journal of Human Genetics [Internet]. 2012;90(3):518–23. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84858040979&doi=10.1016%252fj.ajhg.2012.01.009&partnerID=40&md5=16bf64f5d44f2465d39c4070f527a5ae

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Galmiche L, Serre V, Beinat M, Zossou R, Assouline Z, Lebre AS, et al. Toward genotype phenotype correlations in GFM1 mutations. Mitochondrion [Internet]. 2012;12(2):242–7. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84858008885&doi=10.1016%252fj.mito.2011.09.007&partnerID=40&md5=fdb5c83f0442f9ede84126c5c50a9fae

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Shwartz R, Sheffer RN, Mangisto G, Saada A. Quantitative measurement of urinary glycosaminoglycans using a modified DMB method facilitates the diagnosis and monitoring of mucopolysaccharidoses. Journal of Pediatric Biochemistry [Internet]. 2012;2(3):163–7. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-85021688005&doi=10.1055%252fs-0036-1586409&partnerID=40&md5=26383913de8f7b624f1797b08f0913ee

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Kurian GA, Berenshtein E, Saada A, Chevion M. Rat cardiac mitochondrial sub-populations show distinct features of oxidative phosphorylation during ischemia, reperfusion and ischemic preconditioning. Cellular Physiology and Biochemistry [Internet]. 2012;30(1):83–94. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84863447640&doi=10.1159%252f000339043&partnerID=40&md5=b59d88b62c3212a2bba0185fecb8df9d

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Saada A, Edvardson S, Shaag A, Chung WK, Segel R, Miller C, et al. Combined OXPHOS complex i and IV defect, due to mutated complex i assembly factor C20ORF7. Journal of Inherited Metabolic Disease [Internet]. 2012;35(1):125–31. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84863327256&doi=10.1007%252fs10545-011-9348-y&partnerID=40&md5=0916411988ca5b195aaa2a929d8cfc96

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Shufaro Y, Lebovich M, Aizenman E, Miller C, Simon A, Laufer N, et al. Human granulosa luteal cell oxidative phosphorylation function is not affected by age or ovarian response. Fertility and Sterility [Internet]. 2012;98(1):166-172.e2. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84862985979&doi=10.1016%252fj.fertnstert.2012.03.051&partnerID=40&md5=6cd3eaa487d10fbc5f6cc9bb070bdeba

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Berger I, Ben-Neriah Z, Dor-Wolman T, Shaag A, Saada A, Zenvirt S, et al. Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing. Molecular Genetics and Metabolism [Internet]. 2011;104(4):517–20. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-82255162594&doi=10.1016%252fj.ymgme.2011.09.020&partnerID=40&md5=9324c953d84eb30ce583d30ca5136925

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Golubitzky A, Dan P, Weissman S, Link G, Wikstrom JD, Saada A. Screening for active small molecules in mitochondrial complex I deficient patient’s fibroblasts, reveals AICAR as the most beneficial compound. PLoS ONE [Internet]. 2011;6(10). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-80055050942&doi=10.1371%252fjournal.pone.0026883&partnerID=40&md5=b6ec18f10cd2708b839220a9d253a163

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Saada A. The use of individual patient’s fibroblasts in the search for personalized treatment of nuclear encoded OXPHOS diseases. Molecular Genetics and Metabolism [Internet]. 2011;104(1–2):39–47. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-80052546948&doi=10.1016%252fj.ymgme.2011.07.016&partnerID=40&md5=03547cc08e81f3ec1096d9d239557590

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Dan P, Edvardson S, Bielawski J, Hama H, Saada A. 2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase. Lipids in Health and Disease [Internet]. 2011;10. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-79956226812&doi=10.1186%252f1476-511X-10-84&partnerID=40&md5=d7f397501b41e8dd3b2173248bb18108

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Miller C, Wang L, Ostergaard E, Dan P, Saada A. The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion. Biochimica et Biophysica Acta - Molecular Basis of Disease [Internet]. 2011;1812(5):625–9. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-79952701718&doi=10.1016%252fj.bbadis.2011.01.013&partnerID=40&md5=75a3e5184f35cf72e2877fcb51709ce0

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Smits P, Saada A, Wortmann SB, Heister AJ, Brink M, Pfundt R, et al. Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy. European Journal of Human Genetics [Internet]. 2011;19(4):394–9. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-79952745016&doi=10.1038%252fejhg.2010.214&partnerID=40&md5=0e17c2067df9a8d092fe8c8ba02fa633

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Spiegel R, Khayat M, Shalev SA, Horovitz Y, Mandel H, Hershkovitz E, et al. TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: Further delineation of a new syndrome. Journal of Medical Genetics [Internet]. 2011;48(3):177–82. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-79951811299&doi=10.1136%252fjmg.2010.084608&partnerID=40&md5=eea326588e8e090eaa729aeeb1933936

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Edvardson S, Korman SH, Livne A, Shaag A, Saada A, Nalbandian R, et al. L-arginine:glycine amidinotransferase (AGAT) deficiency: Clinical presentation and response to treatment in two patients with a novel mutation. Molecular Genetics and Metabolism [Internet]. 2010;101(2–3):228–32. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-77957308438&doi=10.1016%252fj.ymgme.2010.06.021&partnerID=40&md5=938905f9d48f8f50a81a06c136cac069

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Levitas A, Muhammad E, Harel G, Saada A, Caspi VC, Manor E, et al. Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. European Journal of Human Genetics [Internet]. 2010;18(10):1160–5. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-77957128549&doi=10.1038%252fejhg.2010.83&partnerID=40&md5=7ce7ea32aeeb3bbb6ac13613486587b6

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Lakhal B, Braham R, Berguigua R, Bouali N, Zaouali M, Chaieb M, et al. Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients. Clinical Genetics [Internet]. 2010;78(2):181–5. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-79952216712&doi=10.1111%252fj.1399-0004.2009.01359.x&partnerID=40&md5=6764e7b6767dd339418db58a76140d84

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Berger I, Segal I, Shmueli D, Saada A. The effect of antiepileptic drugs on mitochondrial activity: A pilot study. Journal of Child Neurology [Internet]. 2010;25(5):541–5. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-77953096933&doi=10.1177%252f0883073809352888&partnerID=40&md5=1895350f6f7a3aa6a14a537c6c8ca18c

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Leshinsky-Silver E, Lev D, Malinger G, Shapira D, Cohen S, Lerman-Sagie T, et al. Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3. Molecular Genetics and Metabolism [Internet]. 2010;100(1):65–70. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-77950519832&doi=10.1016%252fj.ymgme.2010.02.002&partnerID=40&md5=b2a0296fd7588ad47f4714b08a5fd8a4

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Loeb V, Yakunin E, Saada A, Sharon R. The transgenic overexpression of α-synuclein and not its related pathology associates with complex I inhibition. Journal of Biological Chemistry [Internet]. 2010;285(10):7334–43. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-77951239770&doi=10.1074%252fjbc.M109.061051&partnerID=40&md5=00b240a78a7f9aa84df3c65fdb737a4d

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Yakunin E, Moser A, Loeb V, Saada A, Faust P, Crane DI, et al. α-synuclein abnormalities in mouse models of peroxisome biogenesis disorders. Journal of Neuroscience Research [Internet]. 2010;88(4):866–76. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-76549112206&doi=10.1002%252fjnr.22246&partnerID=40&md5=1bd5452c9eeae9a4113ed09cfcc44d8e

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Zeharia A, Shaag A, Pappo O, Mager-Heckel AM, Saada A, Beinat M, et al. Acute Infantile Liver Failure Due to Mutations in the TRMU Gene (DOI:10.1016/j.ajhg.2009.08.004). American Journal of Human Genetics [Internet]. 2010;86(2):295. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-76049109044&doi=10.1016%252fj.ajhg.2010.01.020&partnerID=40&md5=8219119dc46f16b78518b9305e80abeb

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Jones CN, Miller C, Tenenbaum A, Spremulli LL, Saada A. Antibiotic effects on mitochondrial translation and in patients with mitochondrial translational defects. Mitochondrion [Internet]. 2009;9(6):429–37. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-70449133759&doi=10.1016%252fj.mito.2009.08.001&partnerID=40&md5=a6f471d13587bc48536cc37ef7654419

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Belaiche C, Holt A, Saada A. Nonylphenol ethoxylate plastic additives inhibit mitochondrial respiratory chain complex I. Clinical Chemistry [Internet]. 2009;55(10):1883–4. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-70349659681&doi=10.1373%252fclinchem.2009.130054&partnerID=40&md5=988e043fe18f1355e4098984eda632c5

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Saada A. Fishing in the (deoxyribonucleotide) pool. Biochemical Journal [Internet]. 2009;422(3):e3–6. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-70249105044&doi=10.1042%252fBJ20091194&partnerID=40&md5=e35a59f35b01fe8caacc6933d60eef9b

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Zeharia A, Shaag A, Pappo O, Mager-Heckel AM, Saada A, Beinat M, et al. Acute Infantile Liver Failure Due to Mutations in the TRMU Gene. American Journal of Human Genetics [Internet]. 2009;85(3):401–7. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-69649100936&doi=10.1016%252fj.ajhg.2009.08.004&partnerID=40&md5=47f8c8201dfab8d3c82c87ffb363c07e

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Leshinsky-Silver E, Lebre AS, Minai L, Saada A, Steffann J, Cohen S, et al. NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. Molecular Genetics and Metabolism [Internet]. 2009;97(3):185–9. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-67349159760&doi=10.1016%252fj.ymgme.2009.03.002&partnerID=40&md5=622da6c81a02937d698a53da7c55e8bb

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Saada A, Vogel RO, Hoefs SJ, van den Brand MA, Wessels HJ, Willems PH, et al. Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease. American Journal of Human Genetics [Internet]. 2009;84(6):718–27. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-66749128531&doi=10.1016%252fj.ajhg.2009.04.020&partnerID=40&md5=dfa6c516b4ad8e219517393975cdb01b

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Ruvinsky I, Katz M, Dreazen A, Gielchinsky Y, Saada A, Freedman N, et al. Mice deficient in ribosomal protein S6 phosphorylation suffer from muscle weakness that reflects a growth defect and energy deficit. PLoS ONE [Internet]. 2009;4(5). Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-66049157014&doi=10.1371%252fjournal.pone.0005618&partnerID=40&md5=5d260ebe9c88d4324d77c77a6852bf54

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Shteyer E, Saada A, Shaag A, Al-Hijawi FA, Kidess R, Revel-Vilk S, et al. Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene. American Journal of Human Genetics [Internet]. 2009;84(3):412–7. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-61549103491&doi=10.1016%252fj.ajhg.2009.02.006&partnerID=40&md5=19ae924d7489c85ee47ab80c1d18e2f1

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Spiegel R, Shaag A, Mandel H, Reich D, Penyakov M, Hujeirat Y, et al. Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews. European Journal of Human Genetics [Internet]. 2009;17(9):1200–3. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-69249232275&doi=10.1038%252fejhg.2009.24&partnerID=40&md5=d003db1056ff819ad1ee66a84ca82a96

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Zeharia A, Shaag A, Houtkooper RH, Hindi T, de Lonlay P, Erez G, et al. Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood (DOI:10.1016/j.ajhg.2008.09.002). American Journal of Human Genetics [Internet]. 2009;84(1):95. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-58149103028&doi=10.1016%252fj.ajhg.2008.12.003&partnerID=40&md5=5ccfe3895dbe364acb68c1b20f182f3b

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Edvardson S, Hama H, Shaag A, Gomori JM, Berger I, Soffer D, et al. Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia. American Journal of Human Genetics [Internet]. 2008;83(5):643–8. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-55049092207&doi=10.1016%252fj.ajhg.2008.10.010&partnerID=40&md5=24783c691fd0814567b906c7f3f787cf

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Saada A. Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency. Molecular Genetics and Metabolism [Internet]. 2008;95(3):169–73. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-53849098899&doi=10.1016%252fj.ymgme.2008.07.007&partnerID=40&md5=025e8a72a0af6865cda570e9d4b364b3

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Ghezzi D, Saada A, D’Adamo P, Fernandez-Vizarra E, Gasparini P, Tiranti V, et al. FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency. American Journal of Human Genetics [Internet]. 2008;83(3):415–23. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-50949096038&doi=10.1016%252fj.ajhg.2008.08.009&partnerID=40&md5=cfdd7c88d7c922ff763abbaf56265d6f

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Kohler JJ, Hosseini SH, Green E, Hoying-Brandt A, Cucoranu I, Haase CP, et al. Cardiac-targeted transgenic mutant mitochondrial enzymes: mtDNA defects, antiretroviral toxicity and cardiomyopathy. Cardiovascular Toxicology [Internet]. 2008;8(2):57–69. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-51449101904&doi=10.1007%252fs12012-008-9015-1&partnerID=40&md5=f74209e81ee75e77d0c133c48d6efd4a

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Emdadul Haque Md, Grasso D, Miller C, Spremulli LL, Saada A. The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria. Mitochondrion [Internet]. 2008;8(3):254–61. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-45449099046&doi=10.1016%252fj.mito.2008.04.004&partnerID=40&md5=5db374c206b8f6fe119b1f7b112b7245

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Barel O, Shorer Z, Flusser H, Ofir R, Narkis G, Finer G, et al. Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ. American Journal of Human Genetics [Internet]. 2008;82(5):1211–6. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-42749083327&doi=10.1016%252fj.ajhg.2008.03.020&partnerID=40&md5=3e9a38b434fe2101ec54f55560cf0aa8

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Barghuti F, Elian K, Gomori JM, Shaag A, Edvardson S, Saada A, et al. The unique neuroradiology of complex I deficiency due to NDUFA12L defect. Molecular Genetics and Metabolism [Internet]. 2008;94(1):78–82. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-41949112549&doi=10.1016%252fj.ymgme.2007.11.013&partnerID=40&md5=03f894c807ec98eee41a1829577d3538

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Berger I, Hershkovitz E, Shaag A, Edvardson S, Saada A, Elpeleg O. Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. Annals of Neurology [Internet]. 2008;63(3):405–8. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-41849090449&doi=10.1002%252fana.21332&partnerID=40&md5=15c6b8e59922e5a1b429bb9516a4766e

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Saada A, Edvardson S, Rapoport M, Shaag A, Amry K, Miller C, et al. C6ORF66 Is an Assembly Factor of Mitochondrial Complex I. American Journal of Human Genetics [Internet]. 2008;82(1):32–8. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-38749144436&doi=10.1016%252fj.ajhg.2007.08.003&partnerID=40&md5=4de7a35bcec21561f896c4ceb99e1155

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Rapoport M, Saada A, Elpeleg O, Lorberboum-Galski H. TAT-mediated delivery of LAD restores pyruvate dehydrogenase complex activity in the mitochondria of patients with LAD deficiency. Molecular Therapy [Internet]. 2008;16(4):691–7. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-41149128339&doi=10.1038%252fmt.2008.4&partnerID=40&md5=74cae5c153f77f23e9310e79cab1af2b

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Saada A, Shaag A, Arnon S, Dolfin T, Miller C, Fuchs-Telem D, et al. Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. Journal of Medical Genetics [Internet]. 2007;44(12):784–6. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-37249071299&doi=10.1136%252fjmg.2007.053116&partnerID=40&md5=8741a61c4ed97df314ffcdc41e11d0c7

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Reisch AS, Elpeleg O. Biochemical Assays for Mitochondrial Activity: Assays of TCA Cycle Enzymes and PDHc. Methods in Cell Biology [Internet]. 2007;80:199–222. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-34147174836&doi=10.1016%2fS0091-679X%2806%2980010-5&partnerID=40&md5=bae823b0d27fda32a5fb59bc52e4e941

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Ciliberti N, Manfredini S, Angusti A, Durini E, Solaroli N, Vertuani S, et al. Novel selective human mitochondrial kinase inhibitors: Design, synthesis and enzymatic activity. Bioorganic and Medicinal Chemistry [Internet]. 2007;15(8):3065–81. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-33947285430&doi=10.1016%252fj.bmc.2007.01.049&partnerID=40&md5=fb3ebd3f15921bfc5bfb0d155ee16279

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Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, Einbinder T, et al. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. American Journal of Human Genetics [Internet]. 2007;81(4):857–62. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-35348983348&doi=10.1086%252f521227&partnerID=40&md5=7c050aeba98374da44f24fee808c47af

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Spiegel R, Shaag A, Gutman A, Korman SH, Saada A, Elpeleg O, et al. Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation. Journal of inherited metabolic disease [Internet]. 2007;30(2):266. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-34247586652&doi=10.1007%252fs10545-007-0536-8&partnerID=40&md5=088e83c3a4cbc85588d2dd92c20e4688

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Smeitink JAM, Elpeleg O, Antonicka H, Diepstra H, Saada A, Smits P, et al. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. American Journal of Human Genetics [Internet]. 2006;79(5):869–77. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-33751085653&doi=10.1086%252f508434&partnerID=40&md5=b1e882629641861ee96f525ef196afd0

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Leshinsky-Silver E, Lev D, Tzofi-Berman Z, Cohen S, Saada A, Yanoov-Sharav M, et al. Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene. Biochemical and Biophysical Research Communications [Internet]. 2005;334(2):582–7. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-22144483768&doi=10.1016%252fj.bbrc.2005.06.134&partnerID=40&md5=afe100e2435e44ad06bf38313dd6089c

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Bahat-Stroomza M, Gilgun-Sherki Y, Offen D, Panet H, Saada A, Krool-Galron N, et al. A novel thiol antioxidant that crosses the blood brain barrier protects dopaminergic neurons in experimental models of Parkinson’s disease. European Journal of Neuroscience [Internet]. 2005;21(3):637–46. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-14944376569&doi=10.1111%252fj.1460-9568.2005.03889.x&partnerID=40&md5=ec6a9489a8e8c2d0a890d0acd3f75772

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Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, et al. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. American Journal of Human Genetics [Internet]. 2005;76(6):1081–6. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-18944390365&doi=10.1086%252f430843&partnerID=40&md5=e0180ebb3f14a16b94ed7f346156efd7

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Saada-Reisch A. Deoxyribonucleoside kinases in mitochondrial DNA depletion. Nucleosides, Nucleotides and Nucleic Acids [Internet]. 2004;23(8–9):1205–15. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-10344250455&doi=10.1081%252fNCN-200027480&partnerID=40&md5=1e0650523d813c768648e772cb64261c

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Saada A, Bar-Meir M, Belaiche C, Miller C, Elpeleg O. Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency. Analytical Biochemistry [Internet]. 2004;335(1):66–72. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-7444261879&doi=10.1016%252fj.ab.2004.08.015&partnerID=40&md5=8d30500b9a5f0112da9ff9c7f66e55be

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Saada A. Deoxyribonucleotides and disorders of mitochondrial DNA integrity. DNA and Cell Biology [Internet]. 2004;23(12):797–806. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-10344253295&doi=10.1089%252fdna.2004.23.797&partnerID=40&md5=4c7bc1d528de16d3663005607b8aa357

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Miller C, Saada A, Shaul N, Shabtai N, Ben-Shalom E, Shaag A, et al. Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. Annals of Neurology [Internet]. 2004;56(5):734–8. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-9144268494&doi=10.1002%252fana.20282&partnerID=40&md5=e1baf02626b378438aae835c3d5f9c37

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Lamont PJ, Thorburn DR, Fabian V, Vajsar J, Hawkins C, Saada A, et al. Nemaline rods and complex I deficiency in three infants with hypotonia, motor delay and failure to thrive. Neuropediatrics [Internet]. 2004;35(5):302–6. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-8844243256&doi=10.1055%252fs-2004-821243&partnerID=40&md5=6d23d5397ea03e1f170f90d7d8389783

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Saada A, Ben-Shalom E, Zyslin R, Miller C, Mandel H, Elpeleg O. Mitochondrial deoxyribonucleoside triphosphate pools in thymidine kinase 2 deficiency. Biochemical and Biophysical Research Communications [Internet]. 2003;310(3):963–6. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0141534166&doi=10.1016%252fj.bbrc.2003.09.104&partnerID=40&md5=d169bc67bc20cfcaf182fd8faca84d03

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Saada A, Shaag A, Elpeleg O. mtDNA depletion myopathy: Elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency. Molecular Genetics and Metabolism [Internet]. 2003;79(1):1–5. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0038183839&doi=10.1016%2fS1096-7192%2803%2900063-5&partnerID=40&md5=04210ff0029333e5158110969ed852a9

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Wang L, Saada A, Eriksson S. Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy. Journal of Biological Chemistry [Internet]. 2003;278(9):6963–8. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0037470065&doi=10.1074%252fjbc.M206143200&partnerID=40&md5=09e43938a744a06f92276181f6076a2f

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Lev D, Gilad E, Leshinsky-Silver E, Houri S, Levine A, Saada A, et al. Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency. Journal of Inherited Metabolic Disease [Internet]. 2002;25(5):371–7. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0036746685&doi=10.1023%252fA%253a1020195616081&partnerID=40&md5=92920311fd7b7caf8a99552338553ba1

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Elpeleg O, Mandel H, Saada A. Depletion of the other genome-mitochondrial DNA depletion syndromes in humans. Journal of Molecular Medicine [Internet]. 2002;80(7):389–96. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0036019510&doi=10.1007%252fs00109-002-0343-5&partnerID=40&md5=27aad9f67f1221bdf40dbb8c59e333fd

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Nevo Y, Soffer D, Kutai M, Zelnik N, Saada A, Jossiphov J, et al. Clinical characteristics and muscle pathology in myopathic mitochondrial DNA depletion. Journal of Child Neurology [Internet]. 2002;17(7):499–504. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0036656706&doi=10.1177%252f088307380201700705&partnerID=40&md5=ab2b3626fab19969c6651842110fe2b8

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Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nature Genetics [Internet]. 2001;29(3):337–41. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0035183256&doi=10.1038%252fng746&partnerID=40&md5=8efdec1281b6bd52d1cab0bbd6bcca6e

158.

Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nature Genetics [Internet]. 2001;29(3):342–4. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0035179561&doi=10.1038%252fng751&partnerID=40&md5=fb11d3574b1755270df9823f4fb3022a

159.

Elpeleg ON, Hammerman C, Saada A, Shaag A, Golzand E. Antenatal presentation of carnitine palmitoyltransferase II deficiency. American Journal of Medical Genetics [Internet]. 2001;102(2):183–7. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0035425592&doi=10.1002%252fajmg.1457&partnerID=40&md5=0b23ab9ff311d0306965f61aeee229d8

160.

Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, et al. Erratum: The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA (Journal of Vascular Technology (2001) 29 (337-341)). Nature Genetics [Internet]. 2001;29(4):491. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-18344369705&doi=10.1038%252fng1201-491a&partnerID=40&md5=ddd314525beab25f006a3e3080fad14b

161.

Bar-Meir M, Elpeleg ON, Saada A. Effect of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency. Journal of Pediatrics [Internet]. 2001;139(6):868–70. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0035666573&doi=10.1067%252fmpd.2001.118885&partnerID=40&md5=d40d45de77a3aea5bcde7af810c0f79b

162.

Saada A, Aptowitzer I, Link G, Elpeleg ON. ATP synthesis in lipoamide dehydrogenase deficiency. Biochemical and Biophysical Research Communications [Internet]. 2000;269(2):382–6. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0034673557&doi=10.1006%252fbbrc.2000.2310&partnerID=40&md5=c48b4e9203e4f0f5ba0b8d8316d888da

163.

Shany E, Saada A, Landau D, Shaag A, Hershkovitz E, Elpeleg ON. Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain. Biochemical and Biophysical Research Communications [Internet]. 1999;262(1):163–6. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0033584455&doi=10.1006%252fbbrc.1999.1133&partnerID=40&md5=7c21a8abbc9bb8ca6bba21be29b3736b

164.

Shaag A, Saada A, Berger I, Mandel H, Joseph A, Feigenbaum A, et al. Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. American Journal of Medical Genetics [Internet]. 1999;82(2):177–82. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0033555479&doi=10.1002%2f%28SICI%291096-8628%2819990115%2982%3a2%3c177%3a%3aAID-AJMG15%3e3.0.CO%3b2-9&partnerID=40&md5=ae983f93d8a6d5327301adb4468ac7ad

165.

Be’eri H, Reichert F, Saada A, Rotshenker S. The cytokine network of Wallerian degeneration: IL-10 and GM-CSF. European Journal of Neuroscience [Internet]. 1998;10(8):2707–13. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0031901842&doi=10.1046%252fj.1460-9568.1998.00277.x&partnerID=40&md5=baf5c52abf57560d5477fde57db9f777

166.

Link G, Saada A, Pinson A, Konijn AM, Hershko C. Mitochondrial respiratory enzymes are a major target of iron toxicity in rat heart cells. Journal of Laboratory and Clinical Medicine [Internet]. 1998;131(5):466–74. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0032078224&doi=10.1016%2fS0022-2143%2898%2990148-2&partnerID=40&md5=7bb5a2a2db0e22e1ea0c21cb584a69b1

167.

Cohen O, Steiner I, Argov Z, Ashkenazi A, Diment J, Saada A, et al. Mitochondrial myopathy with atypical subacute presentation [6]. Journal of Neurology Neurosurgery and Psychiatry [Internet]. 1998;64(3):410–1. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0031942127&doi=10.1136%252fjnnp.64.3.410&partnerID=40&md5=c1ec3321a11f8c5dec131a7c8f0722e0

168.

Elpeleg ON, Shaag A, Glustein JZ, Anikster Y, Joseph A, Saada A. Lipoamide dehydrogenase deficiency in ashkenazi jews: An insertion mutation in the mitochondrial leader sequence. Human Mutation [Internet]. 1997;10(3):256–7. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0030769124&doi=10.1002%2f%28SICI%291098-1004%281997%2910%3a3%3c256%3a%3aAID-HUMU16%3e3.0.CO%3b2-Z&partnerID=40&md5=704f83b4685f381046ce49e12f919d61

169.

Aptowitzer I, Saada A, Faber J, Kleid D, Elpeleg ON. Liver disease in the Ashkenazi-Jewish lipoamide dehydrogenase deficiency. Journal of Pediatric Gastroenterology and Nutrition [Internet]. 1997;24(5):599–601. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0030926196&doi=10.1097%252f00005176-199705000-00019&partnerID=40&md5=eeff728ec628ad46333e97bae54e55b3

170.

Shaag A, Saada A, Steinberg A, Navon P, Elpeleg ON. Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu(UUR)) gene (A3243T). Biochemical and Biophysical Research Communications [Internet]. 1997;233(3):637–9. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0031589154&doi=10.1006%252fbbrc.1997.6496&partnerID=40&md5=9c45633bcfa988920babb9c59f329626

171.

Elpeleg ON, Saada AB, Shaag A, Glustein JZ, Ruitenbeek W, Tein I, et al. Lipoamide dehydrogenase deficiency: A new cause for recurrent myoglobinuria. Muscle and Nerve [Internet]. 1997;20(2):238–40. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0031046624&doi=10.1002%2f%28SICI%291097-4598%28199702%2920%3a2%3c238%3a%3aAID-MUS18%3e3.0.CO%3b2-Z&partnerID=40&md5=adbe8a99a0857bb4bbdd6359c6847261

172.

Berger I, Elpeleg ON, Saada A. Lipoamide dehydrogenase activity in lymphocytes. Clinica Chimica Acta [Internet]. 1996;256(2):197–201. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0030607699&doi=10.1016%2fS0009-8981%2896%2906420-0&partnerID=40&md5=bd4ccbd1bbfb2e7bd4eef1ca112eb571

173.

Saada A, Reichert F, Rotshenker S. Granulocyte macrophage colony stimulating factor produced in lesioned peripheral nerves induces the up-regulation of cell surface expression of MAC-2 by macrophages and Schwann cells. Journal of Cell Biology [Internet]. 1996;133(1):159–67. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0029929404&doi=10.1083%252fjcb.133.1.159&partnerID=40&md5=f74c3009f9d70d8bac5bc40c9d089b6f

174.

Saada A, Dunaevsky‐Hutt A, Aamar A, Reichert F, Rotshenker S. Fibroblasts that Reside in Mouse and Frog Injured Peripheral Nerves Produce Apolipoproteins. Journal of Neurochemistry [Internet]. 1995;64(5):1996–2003. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0028930810&doi=10.1046%252fj.1471-4159.1995.64051996.x&partnerID=40&md5=359eba21bf1e1de72456466a03344f5e

175.

Reichert F, Saada A, Rotshenker S. Peripheral nerve injury induces Schwann cells to express two macrophage phenotypes: Phagocytosis and the galactose-specific lectin MAC-2. Journal of Neuroscience [Internet]. 1994;14(5 II):3231–45. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0028334842&doi=10.1523%252fjneurosci.14-05-03231.1994&partnerID=40&md5=8550db01ebe1f44b787cb40443766a3f

176.

Aamar S, Saada A, Rotshenker S. Lesion‐Induced Changes in the Production of Newly Synthesized and Secreted Apo‐E and Other Molecules Are Independent of the Concomitant Recruitment of Blood‐Borne Macrophages into Injured Peripheral Nerves. Journal of Neurochemistry [Internet]. 1992;59(4):1287–92. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0026761485&doi=10.1111%252fj.1471-4159.1992.tb08439.x&partnerID=40&md5=7db44e1f7d6aea3acf7ad0c627988d89

177.

Saada AB, Terespolski Y, Adoni A, Kahane I. Adherence of Ureaplasma urealyticum to human erythrocytes. Infection and Immunity [Internet]. 1991;59(1):467–9. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0026011202&partnerID=40&md5=9a285a2d04e563fed5df8aaad3393122

178.

Kahane I, Reisch-Saada A, Almagor M, Abeliuck P, Yatziv S. Glycosidase Activities of Mycoplasmas. Zentralblatt fur Bakteriologie [Internet]. 1990;273(3):300–5. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0025125533&doi=10.1016%2fS0934-8840%2811%2980432-9&partnerID=40&md5=1f74c2d3ef8f2b6fd94c8e5ab15b83a4

179.

Saada AB, Deutsch V, Kahane I. Interaction of a monoclonal antibody with the urease of Ureaplasma urealyticum. FEMS Microbiology Letters [Internet]. 1988;55(2):187–90. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0023771044&doi=10.1111%252fj.1574-6968.1988.tb13931.x&partnerID=40&md5=cbe0fb5dae5109cc5d248f3c4f707d31

180.

Saada AB, Kahane I. Purification and characterization of urease from Ureaplasma urealyticum. Zentralblatt fur Bakteriologie Mikrobiologie und Hygiene - Abt 1 Orig A [Internet]. 1988;269(2):160–7. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0024063450&doi=10.1016%2fS0176-6724%2888%2980092-0&partnerID=40&md5=e5d08df8099a2ba100ec273055892e3b

181.

Kahane I, Granek J, Reisch-Saada A. The adhesins of Mycoplasma gallisepticum and M. Pneumoniae. Annales de l’Institut Pasteur Microbiology [Internet]. 1984;135(1):25–32. Available from: https://www.scopus.com/inward/record.uri?eid=2-s2.0-0021366833&doi=10.1016%2fS0769-2609%2884%2980055-1&partnerID=40&md5=8526daa88564f82dbac343de528cb723