1.            Mitrani-Rosenbaum, S., Attali, R. & Argov, Z. GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors? Neuromuscul. Disord. 33, 762–768 (2023).

2.            Argov, Z. & Mitrani-Rosenbaum, S. GNE Myopathy. Current Clinical Neurology vol. Part F2297 147–158 (2023).

3.            Livne, H. et al. Generation and characterization of a novel gne Knockout Model in Zebrafish. Front. Cell Dev. Biol. 10, (2022).

4.            Grinbaum, R., Beglaibter, N., Mitrani-Rosenbaum, S., Kaplan, L. M. & Ben-Zvi, D. The Obesogenic and Glycemic Effect of Bariatric Surgery in a Family with a Melanocortin 4 Receptor Loss-of-Function Mutation. Metabolites 12, (2022).

5.            Ilouz, N. et al. In vivo and in vitro genome editing to explore GNE functions. Front. Genome Ed. 4, (2022).

6.            Mitrani-Rosenbaum, S. et al. Pre Clinical Assessment of AAVrh74.MCK.GNE Viral Vector Therapeutic Potential: Robust Activity Despite Lack of Consistent Animal Model for GNE Myopathy. J. Neuromuscul. Dis. 9, 179–192 (2022).

7.            Sela, I. et al. The glycomic sialylation profile of GNE Myopathy muscle cells does not point to consistent hyposialylation of individual glycoconjugates. Neuromuscul. Disord. 30, 621–630 (2020).

8.            Benyamini, H. et al. Upregulation of Hallmark Muscle Genes Protects GneM743T/M743T Mutated Knock-In Mice from Kidney and Muscle Phenotype. J. Neuromuscul. Dis. 7, 119–136 (2020).

9.            Yanay, N. et al. Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy2J/dy2J mouse model of Lama2-CMD. Hum. Mol. Genet. 28, 3369–3390 (2019).

10.          Pogoryelova, O. et al. 237th ENMC International Workshop: GNE myopathy – current and future research Hoofddorp, The Netherlands, 14–16 September 2018. Neuromuscul. Disord. 29, 401–410 (2019).

11.          Harazi, A. et al. The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant. Mol. Neurobiol. 54, 2928–2938 (2017).

12.          Harazi, A. et al. Survival-apoptosis associated signaling in GNE myopathy-cultured myoblasts. J. Recept. Signal Transduct. 35, 249–257 (2015).

13.          Rokach, O. et al. Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. Hum. Mol. Genet. 24, 4636–4647 (2015).

14.          Argov, Z. & Mitrani Rosenbaum, S. GNE Myopathy: Two Clusters with History and Several Founder Mutations. J. Neuromuscul. Dis. 2, S73–S76 (2015).

15.          Elbaz, M. et al. Life or death by NFκB, Losartan promotes survival in dy2J /dy2J mouse of MDC1A. Cell Death Dis. 6, (2015).

16.          Yanovsky-Dagan, S. et al. Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells. Stem Cell Reports 5, 221–231 (2015).

17.          Daya, A. et al. Gne depletion during zebrafish development impairs skeletal muscle structure and function. Hum. Mol. Genet. 23, 3350–3361 (2014).

18.          Tal-Goldberg, T., Lorain, S. & Mitrani-Rosenbaum, S. Correction of the Middle Eastern M712T mutation causing GNE myopathy by trans-splicing. NeuroMolecular Med. 16, 322–331 (2014).

19.          Huizing, M. et al. GNE myopathy: New name and new mutation nomenclature. Neuromuscul. Disord. 24, 387–389 (2014).

20.          Attali, R. et al. Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation. PLoS One 8, (2013).

21.          Sela, I. et al. Variable phenotypes of knockin mice carrying the M712T Gne mutation. NeuroMolecular Med. 15, 180–191 (2013).

22.          Mitrani-Rosenbaum, S. et al. Sustained expression and safety of human GNE in normal mice after gene transfer based on AAV8 systemic delivery. Neuromuscul. Disord. 22, 1015–1024 (2012).

23.          Yoshimura, T. et al. Detection of N-glycans on small amounts of glycoproteins in tissue samples and sodium dodecyl sulfate-polyacrylamide gels. Anal. Biochem. 423, 253–260 (2012).

24.          Nissan, A. et al. Colon cancer associated transcript-1: A novel RNA expressed in malignant and pre-malignant human tissues. Int. J. Cancer 130, 1598–1606 (2012).

25.          Milman Krentsis, I. et al. GNE is involved in the early development of skeletal and cardiac muscle. PLoS One 6, (2011).

26.          Sela, I. et al. The proteomic profile of hereditary inclusion body myopathy. PLoS One 6, (2011).

27.          Mazeh, H. et al. Development of a microRNA-based molecular assay for the detection of papillary thyroid carcinoma in aspiration biopsy samples. Thyroid 21, 111–118 (2011).

28.          Laing, N. G. et al. Mutations and polymorphisms of the skeletal muscle α-actin gene (ACTA1). Hum. Mutat. 30, 1267–1277 (2009).

29.          Agranat-Meged, A. et al. Attention deficit hyperactivity disorder in obese melanocortin-4-receptor (MC4R) deficient subjects: A newly described expression of MC4R deficiency. Am. J. Med. Genet. Part B Neuropsychiatr. Genet. 147, 1547–1553 (2008).

30.          Eisenberg, I. et al. Mitochondrial processes are impaired in hereditary inclusion body myopathy. Hum. Mol. Genet. 17, 3663–3674 (2008).

31.          Argov, Z. & Mitrani-Rosenbaum, S. The Hereditary Inclusion Body Myopathy Enigma and its Future Therapy. Neurotherapeutics 5, 633–637 (2008).

32.          Amsili, S. et al. UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: Novel pathways in skeletal muscle? PLoS One 3, (2008).

33.          Eisenberg, I. et al. Distinctive patterns of microRNA expression in primary muscular disorders (Proceedings of the National Academy of Sciences of the United States of America (2007) 104, 43, (17016-17021) DOI: 10.1073/pnas.0708115104). Proc. Natl. Acad. Sci. U. S. A. 105, 399 (2008).

34.          Argov, Z. & Mitrani-Rosenbaum, S. Hereditary inclusion body myopathy and other rimmed vacuolar myopathies. Handbook of Clinical Neurology vol. 86 243–253 (2007).

35.          Amsili, S. et al. Characterization of hereditary inclusion body myopathy myoblasts: Possible primary impairment of apoptotic events. Cell Death Differ. 14, 1916–1924 (2007).

36.          Eisenberg, I. et al. Distinctive patterns of microRNA expression in primary muscular disorders. Proc. Natl. Acad. Sci. U. S. A. 104, 17016–17021 (2007).

37.          Krause, S. et al. GNE protein expression and subcellular distribution are unaltered in HIBM. Neurology 69, 655–659 (2007).

38.          Nissan, A. & Mitrani-Rosenbaum, S. Reply: Specificity of RT-PCR for the detection of minimal residual disease in breast cancer patients [3]. Br. J. Cancer 94, 1762 (2006).

39.          Nissan, A. et al. Multimarker RT-PCR assay for the detection of minimal residual disease in sentinel lymph nodes of breast cancer patients. Br. J. Cancer 94, 681–685 (2006).

40.          Penner, J. et al. Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy. Biochemistry 45, 2968–2977 (2006).

41.          Krause, S. et al. Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells. Exp. Cell Res. 304, 365–379 (2005).

42.          Salama, I. et al. No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation. Biochem. Biophys. Res. Commun. 328, 221–226 (2005).

43.          Hinderlich, S. et al. The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy. FEBS Lett. 566, 105–109 (2004).

44.          Avidor, B. et al. Insight into the intrinsic sensitivity of the PCR assay used to detect CMV infection in amniotic fluid specimens. J. Clin. Virol. 29, 260–270 (2004).

45.          Hinderlich, S. et al. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy [3] (multiple letters). Neurology 61, 145 (2003).

46.          Argov, Z. et al. Hereditary inclusion body myopathy: The Middle Eastern genetic cluster. Neurology 60, 1519–1523 (2003).

47.          Eisenberg, I. et al. Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. Hum. Mutat. 21, 99 (2003).

48.          Eisenberg, I., Hochner, H., Sadeh, M., Argov, Z. & Mitrani-Rosenbaum, S. Establishment of the genomic structure and identification of thirteen single-nucleotide polymorphisms in the human RECK gene. Cytogenet. Genome Res. 97, 58–61 (2002).

49.          Eisenberg, I., Barash, M., Kahan, T. & Mitrani-Rosenbaum, S. Cloning and characterization of a human novel gene C9orf19 encoding a conserved putative protein with an SCP-like extracellular protein domain. Gene 293, 141–148 (2002).

50.          Eisenberg, I. et al. Cloning and characterization of a novel human gene RNF38 encoding a conserved putative protein with a RING finger domain. Biochem. Biophys. Res. Commun. 294, 1169–1176 (2002).

51.          Eisenberg, I. et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat. Genet. 29, 83–87 (2001).

52.          Amsalem, H. et al. Monopaternal superfecundation of quintuplets after transfer of two embryos in an in vitro fertilization cycle. Fertil. Steril. 76, 621–623 (2001).

53.          Eisenberg, I. et al. Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13. Eur. J. Hum. Genet. 9, 501–509 (2001).

54.          Argov, Z. et al. Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features. Brain 123, 1229–1237 (2000).

55.          Avner, R. et al. X inactivation-specific transcript expression in mouse oocytes and zygotes. Mol. Hum. Reprod. 6, 591–594 (2000).

56.          Ben-Bassat, H. et al. Tyrphostins that suppress the growth of human papilloma virus 16- immortalized human keratinocytes. J. Pharmacol. Exp. Ther. 290, 1442–1457 (1999).

57.          Eisenberg, I. et al. Fine-structure mapping of the hereditary inclusion body myopathy locus. Genomics 55, 43–48 (1999).

58.          Argov, Z., Eisenberg, I. & Mitrani-Rosenbaum, S. Genetics of inclusion body myopathies. Curr. Opin. Rheumatol. 10, 543–547 (1998).

59.          Lipitz, S. et al. Obstetric outcome after RhD and Kell testing. Hum. Reprod. 13, 1472–1475 (1998).

60.          Argov, Z., Sadeh, M., Eisenberg, I., Karpati, G. & Mitrani-Rosenbaum, S. Facial weakness in hereditary inclusion body myopathies. Neurology 50, 1925–1926 (1998).

61.          Mitrani-Rosenbaum, S. et al. Recessively-inherited inclusion body myopathies: Genetic studies. Acta Myol. 1, 27–30 (1997).

62.          Hodak, E. et al. Lupus miliaris disseminatus faciei - The DNA of Mycobacterium tuberculosis is not detectable in active lesions by polymerase chain reaction. Br. J. Dermatol. 137, 614–619 (1997).

63.          Ben-Bassat, H. et al. Inhibitors of epidermal growth factor receptor kinase and of cyclin- dependent kinase 2 activation induce growth arrest, differentiation, and apoptosis of human papilloma virus 16-immortalized human keratinocytes. Cancer Res. 57, 3741–3750 (1997).

64.          Argov, Z. et al. Various types of hereditary inclusion body myopathies map to chromosome 9p1-q1. Ann. Neurol. 41, 548–551 (1997).

65.          Mitrani-Rosenbaum, S., Argov, Z., Blumenfeld, A., Seidman, C. E. & Seidman, J. G. Hereditary inclusion body myopathy maps to chromosome 9p1-q1. Hum. Mol. Genet. 5, 159–163 (1996).

66.          Reubinoff, B. E. et al. RhD genotype determination by single sperm cell analysis. Am. J. Obstet. Gynecol. 174, 1300–1305 (1996).

67.          Avner, R. et al. Management of rhesus isoimmunization by preimplantation genetic diagnosis. Mol. Hum. Reprod. 2, 60–62 (1996).

68.          Smetana, Z. et al. Presence of human papilloma virus in transitional cell carcinoma in Jewish population in Israel. Cell. Mol. Biol. (Noisy-le-grand). 41, 1017–1023 (1995).

69.          Isacsohn, M. et al. The inter-relationship of herpes virus, papilloma 16/18 virus infection and PAP smear pathology in Israeli women. Isr. J. Med. Sci. 30, 383–387 (1994).

70.          Mitrani-Rosenbaum, S. Human papillomaviruses and the diagnosis of genital microorganisms. Isr. J. Med. Sci. 30, 443–447 (1994).

71.          Landau, Z., Gross, R., Sanilevich, A., Friedmann, A. & Mitrani‐Rosenbaum, S. Presence of infective Epstein‐Barr virus in the urine of patients with infectious mononucleosis. J. Med. Virol. 44, 229–233 (1994).

72.          Avner, R. et al. Genetics: Preimplantation diagnosis of cystic fibrosis by simultaneous detection of the W1282X and δf508 mutations. Hum. Reprod. 9, 1676–1680 (1994).

73.          Mitrani-Rosenbaum, S. et al. Simultaneous detection of three common sexually transmitted agents by polymerase chain reaction. Am. J. Obstet. Gynecol. 171, 784–790 (1994).

74.          Ho, L. et al. The genetic drift of human papillomavirus type 16 is a means of reconstructing prehistoric viral spread and the movement of ancient human populations. J. Virol. 67, 6413–6423 (1993).

75.          Sherman, L., Golan, Y., Mitrani-Rosenbaum, S. & Baram, A. Differential expression of HPV types 6 and 11 in condylomas and cervical preneoplastic lesions. Virus Res. 25, 23–36 (1992).

76.          Wolf, R., Tamir, A., Weinberg, M., Mitrani‐Rosenbaum, S. & Brenner, S. Eczema Herpeticum Induced by Sun Exposure. Int. J. Dermatol. 31, 298–299 (1992).

77.          Mitrani-Rosenbaum, S. & Tsvieli, R. Differential cooperation of a carcinogen with human papillomavirus type 6 and 16 DNAs in vitro oncogenic transformation. Intervirology 33, 76–85 (1992).

78.          Ezra, Y., Mitrani-Rosenbaum, S., Everhadani, P., Tsvieli, R. & Anteby, S. O. The incidence of human papillomavirus infection in student’s population. Cervix Low. Female Genital Tract 9, 131–133 (1991).

79.          Garlick, J. A., Calderon, S. & Mitrani-Rosenbaum, S. Focal epithelial hyperplasia. J. Am. Acad. Dermatol. 21, 1036–1037 (1989).

80.          Gal, D., Friedman, M. & Mitrani-Rosenbaum, S. Transmissibility and treatment failures of different types of human papillomavirus. Obstet. Gynecol. 73, 308–311 (1989).

81.          Mitrani-Rosenbaum, S., Tsvieli, R. & Tur-Kaspa, R. Oestrogen stimulates differential transcription of human papillomavirus type 16 in SiHa cervical carcinoma cells. J. Gen. Virol. 70, 2227–2232 (1989).

82.          Garlick, J. A., Calderon, S., Buchner, A. & Mitrani‐Rosenbaum, S. Detection of human papillomavirus (HPV) DNA in focal epithelial hyperplasia. J. Oral Pathol. Med. 18, 172–177 (1989).

83.          Mitrani-Rosenbaum, S. et al. Papillomaviruses in lesions of the lower genital tract in Israeli patients. Eur. J. Cancer Clin. Oncol. 24, 725–731 (1988).

84.          Mitrani-Rosenbaum, S. Use of a stable bovine papillomavirus vector to study inducible genes. Intervirology 29, 108–114 (1988).

85.          Garlick, J. A., Calderon, S. & Mitrani-Rosenbaum, S. Human papillomavirus (HPV) and its role in oral disease--an overview. Refu"at ha-shinayim (Tel Aviv, Isr.  1983) 5, 25–30 (1987).

86.          Mitrani-Rosenbaum, S. & Kitron, N. Integration and transcription of human papillomavirus type 6 recombinant DNA in mouse cells. Virus Res. 8, 335–347 (1987).

87.          Maroteaux, L., Chen, L., Mitrani-Rosenbaum, S., Howley, P. M. & Revel, M. Cycloheximide induces expression of the human interferon β1 gene in mouse cells transformed by bovine papillomavirus-interferon β1 recombinants. J. Virol. 47, 89–95 (1983).

88.          Mitrani-Rosenbaum, S., Maroteaux, L., Mory, Y., Revel, M. & Howley, P. M. Inducible expression of the human interferon β1 gene linked to a bovine papilloma virus DNA vector and maintained extrachromosomally in mouse cells. Mol. Cell. Biol. 3, 233–240 (1983).

89.          Mitrani‐Rosenbaum, S. et al. Hybridization between a human epithelial line, infectable by Epstein‐Barr virus, and burkitt lymphoma lines: Membrane properties, superinfectability, inducibility and tumorigenicity. Int. J. Cancer 30, 593–600 (1982).

90.          Ben-Bassat, H., Mitrani-Rosenbaum, S. & Goldblum, N. Induction of Epstein-Barr virus nuclear antigen and DNA synthesis in a human epithelial cell line after Epstein-Barr virus infection. J. Virol. 41, 703–708 (1982).

91.          Katz, E., Mitrani-Rosenbaum, S., Margalith, E. & Ben-Bassat, H. Interaction of herpes simplex virus with human cell lines at various stages of lymphoid differentiation. Intervirology 16, 33–42 (1981).

92.          Ben-Bassat, H. et al. Changes in the Con-A-induced redistribution pattern of lymphocytes: A possible aid in the differential diagnosis between malignant lymphoma and other diseases. Blood 55, 205–210 (1980).

93.          Ben‐Bassat, H. et al. Establishment in continuous culture of a T‐lymphoid cell line (HD‐Mar) from a patient with Hodgkin’s lymphoma. Int. J. Cancer 25, 583–590 (1980).

94.          Ben‐Bassat, H. et al. A comparative study of human cell lines derived from patients with lymphoma, leukemia and infectious mononucleosis. Membrane properties, ultrastructure, and surface morphology. Cancer 40, 1481–1491 (1977).

95.          Goldblum, N. et al. A case of an Epstein-Barr virus (EBV) genome-carrying lymphoma in an Israeli Arab child. Eur. J. Cancer 13, 693–698 (1977).

96.          Ben‐bassats, H. et al. Establishment in continuous culture of a new type of lymphocyte from a “burkitt‐like” malignant lymphoma (line d.g.‐75). Int. J. Cancer 19, 27–33 (1977).

97.          Ben‐Bassat, H., Goldblum, N., Mitrani, S., Klein, G. & Johansson, B. Concanavalin a receptors on the surface membrane of lymphocytes from patients with african Burkitt’s lymphoma and lymphoma cell lines. Int. J. Cancer 17, 448–454 (1976).

98.          Ben-Bassat, H., Goldblum, T., Mitrani, S., Bentwich, Z. & Goldblum, N. Concanavalin A receptors and other cell surface and antigenic characteristics of continuous lymphoblastoid cell lines derived from patients with Hodgkin’s disease and other malignant lymphomas. Prog. Med. Virol. 21, 177–187 (1975).