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Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.

Journal of medical genetics

Nuovo S, Micalizzi A, Romaniello R, Arrigoni F, Ginevrino M, Casella A, Serpieri V, D'Arrigo S, Briguglio M, Salerno GG, Rossato S, Sartori S, Leuzzi V, Battini R, Ben-Zeev B, Graziano C, Mirabelli Badenier M, Brankovic V, Nardocci N, Spiegel R, Petković Ramadža D, Vento G, Marti I, Simonati A, Dipresa S, Freri E, Mazza T, Bassi MT, Bosco L, Travaglini L, Zanni G, Bertini ES, Vanacore N, Borgatti R, Valente EM.
PMID: 34085948
J Med Genet. 2021 Mar 05; doi: 10.1136/jmedgenet-2020-107497. Epub 2021 Mar 05.

No abstract available.

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Nuovo S, Micalizzi A, Romaniello R, et al. Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study. J Med Genet. 2021;doi: 10.1136/jmedgenet-2020-107497.
Nuovo, S., Micalizzi, A., Romaniello, R., Arrigoni, F., Ginevrino, M., Casella, A., Serpieri, V., D'Arrigo, S., Briguglio, M., Salerno, G. G., Rossato, S., Sartori, S., Leuzzi, V., Battini, R., Ben-Zeev, B., Graziano, C., Mirabelli Badenier, M., Brankovic, V., Nardocci, N., Spiegel, R., Petković Ramadža, D., Vento, G., Marti, I., Simonati, A., Dipresa, S., Freri, E., Mazza, T., Bassi, M. T., Bosco, L., Travaglini, L., Zanni, G., Bertini, E. S., Vanacore, N., Borgatti, R., & Valente, E. M. (2021). Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study. Journal of medical genetics, . https://doi.org/10.1136/jmedgenet-2020-107497
Nuovo, Sara, et al. "Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study." Journal of medical genetics vol. (2021). doi: https://doi.org/10.1136/jmedgenet-2020-107497
Nuovo S, Micalizzi A, Romaniello R, Arrigoni F, Ginevrino M, Casella A, Serpieri V, D'Arrigo S, Briguglio M, Salerno GG, Rossato S, Sartori S, Leuzzi V, Battini R, Ben-Zeev B, Graziano C, Mirabelli Badenier M, Brankovic V, Nardocci N, Spiegel R, Petković Ramadža D, Vento G, Marti I, Simonati A, Dipresa S, Freri E, Mazza T, Bassi MT, Bosco L, Travaglini L, Zanni G, Bertini ES, Vanacore N, Borgatti R, Valente EM. Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study. J Med Genet. 2021 Mar 05; doi: 10.1136/jmedgenet-2020-107497. Epub 2021 Mar 05. PMID: 34085948.
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Developing Fast, Red-Light Optogenetic Stimulation of Spiral Ganglion Neurons for Future Optical Cochlear Implants.

Frontiers in molecular neuroscience

Huet AT, Dombrowski T, Rankovic V, Thirumalai A, Moser T, Viera AJ.
PMID: 33776648
Front Mol Neurosci. 2021 Mar 11;14:635897. doi: 10.3389/fnmol.2021.635897. eCollection 2021.

Optogenetic stimulation of type I spiral ganglion neurons (SGNs) promises an alternative to the electrical stimulation by current cochlear implants (CIs) for improved hearing restoration by future optical CIs (oCIs). Most of the efforts in using optogenetic stimulation in...

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Huet AT, Dombrowski T, Rankovic V, et al. Developing Fast, Red-Light Optogenetic Stimulation of Spiral Ganglion Neurons for Future Optical Cochlear Implants. Front Mol Neurosci. 2021;14:635897doi: 10.3389/fnmol.2021.635897.
Huet, A. T., Dombrowski, T., Rankovic, V., Thirumalai, A., Moser, T., & Viera, A. J. (2021). Developing Fast, Red-Light Optogenetic Stimulation of Spiral Ganglion Neurons for Future Optical Cochlear Implants. Frontiers in molecular neuroscience, 14635897. https://doi.org/10.3389/fnmol.2021.635897
Huet, Antoine Tarquin, et al. "Developing Fast, Red-Light Optogenetic Stimulation of Spiral Ganglion Neurons for Future Optical Cochlear Implants." Frontiers in molecular neuroscience vol. 14 (2021): 635897. doi: https://doi.org/10.3389/fnmol.2021.635897
Huet AT, Dombrowski T, Rankovic V, Thirumalai A, Moser T, Viera AJ. Developing Fast, Red-Light Optogenetic Stimulation of Spiral Ganglion Neurons for Future Optical Cochlear Implants. Front Mol Neurosci. 2021 Mar 11;14:635897. doi: 10.3389/fnmol.2021.635897. eCollection 2021. PMID: 33776648; PMCID: PMC7991399.
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Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea.

Molecular genetics & genomic medicine

Liao J, Coffman KA, Locker J, Padiath QS, Nmezi B, Filipink RA, Hu J, Sathanoori M, Madan-Khetarpal S, McGuire M, Schreiber A, Moran R, Friedman N, Hoffner L, Rajkovic A, Yatsenko SA, Surti U.
PMID: 33666368
Mol Genet Genomic Med. 2021 Apr;9(4):e1647. doi: 10.1002/mgg3.1647. Epub 2021 Mar 05.

BACKGROUND: Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by early-onset non-progressive involuntary movements. Although NKX2-1 mutations or deletions are the cause of BHC, some BHC families do not have pathogenic alterations in the NKX2-1 gene, indicating...

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Liao J, Coffman KA, Locker J, et al. Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea. Mol Genet Genomic Med. 2021;9(4):e1647doi: 10.1002/mgg3.1647.
Liao, J., Coffman, K. A., Locker, J., Padiath, Q. S., Nmezi, B., Filipink, R. A., Hu, J., Sathanoori, M., Madan-Khetarpal, S., McGuire, M., Schreiber, A., Moran, R., Friedman, N., Hoffner, L., Rajkovic, A., Yatsenko, S. A., & Surti, U. (2021). Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea. Molecular genetics & genomic medicine, 9(4), e1647. https://doi.org/10.1002/mgg3.1647
Liao, Jun, et al. "Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea." Molecular genetics & genomic medicine vol. 9,4 (2021): e1647. doi: https://doi.org/10.1002/mgg3.1647
Liao J, Coffman KA, Locker J, Padiath QS, Nmezi B, Filipink RA, Hu J, Sathanoori M, Madan-Khetarpal S, McGuire M, Schreiber A, Moran R, Friedman N, Hoffner L, Rajkovic A, Yatsenko SA, Surti U. Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea. Mol Genet Genomic Med. 2021 Apr;9(4):e1647. doi: 10.1002/mgg3.1647. Epub 2021 Mar 05. PMID: 33666368; PMCID: PMC8123744.
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[No title available]

Frontiers in molecular neuroscience

Oestreicher D, Picher MM, Rankovic V, Moser T, Pangrsic T.
PMID: 34489639
Front Mol Neurosci. 2021 Aug 19;14:689415. doi: 10.3389/fnmol.2021.689415. eCollection 2021.

Clinical management of auditory synaptopathies like other genetic hearing disorders is currently limited to the use of hearing aids or cochlear implants. However, future gene therapy promises restoration of hearing in selected forms of monogenic hearing impairment, in which...

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Oestreicher D, Picher MM, Rankovic V, et al. . Front Mol Neurosci. 2021;14:689415doi: 10.3389/fnmol.2021.689415.
Oestreicher, D., Picher, M. M., Rankovic, V., Moser, T., & Pangrsic, T. (2021). . Frontiers in molecular neuroscience, 14689415. https://doi.org/10.3389/fnmol.2021.689415
Oestreicher, David, et al. "." Frontiers in molecular neuroscience vol. 14 (2021): 689415. doi: https://doi.org/10.3389/fnmol.2021.689415
Oestreicher D, Picher MM, Rankovic V, Moser T, Pangrsic T. . Front Mol Neurosci. 2021 Aug 19;14:689415. doi: 10.3389/fnmol.2021.689415. eCollection 2021. PMID: 34489639; PMCID: PMC8417311.
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Cyanotoxins and Food Contamination in Developing Countries: Review of Their Types, Toxicity, Analysis, Occurrence and Mitigation Strategies.

Toxins

Abdallah MF, Van Hassel WHR, Andjelkovic M, Wilmotte A, Rajkovic A.
PMID: 34822570
Toxins (Basel). 2021 Nov 06;13(11). doi: 10.3390/toxins13110786.

Cyanotoxins have gained global public interest due to their potential to bioaccumulate in food, which threatens human health. Bloom formation is usually enhanced under Mediterranean, subtropical and tropical climates which are the dominant climate types in developing countries. In...

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Abdallah MF, Van Hassel WHR, Andjelkovic M, et al. Cyanotoxins and Food Contamination in Developing Countries: Review of Their Types, Toxicity, Analysis, Occurrence and Mitigation Strategies. Toxins (Basel). 2021;13(11)doi: 10.3390/toxins13110786.
Abdallah, M. F., Van Hassel, W. H. R., Andjelkovic, M., Wilmotte, A., & Rajkovic, A. (2021). Cyanotoxins and Food Contamination in Developing Countries: Review of Their Types, Toxicity, Analysis, Occurrence and Mitigation Strategies. Toxins, 13(11), . https://doi.org/10.3390/toxins13110786
Abdallah, Mohamed F, et al. "Cyanotoxins and Food Contamination in Developing Countries: Review of Their Types, Toxicity, Analysis, Occurrence and Mitigation Strategies." Toxins vol. 13,11 (2021). doi: https://doi.org/10.3390/toxins13110786
Abdallah MF, Van Hassel WHR, Andjelkovic M, Wilmotte A, Rajkovic A. Cyanotoxins and Food Contamination in Developing Countries: Review of Their Types, Toxicity, Analysis, Occurrence and Mitigation Strategies. Toxins (Basel). 2021 Nov 06;13(11). doi: 10.3390/toxins13110786. PMID: 34822570; PMCID: PMC8619289.
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Publisher Correction: Resting state alpha oscillatory activity is a valid and reliable marker of schizotypy.

Scientific reports

Trajkovic J, Di Gregorio F, Ferri F, Marzi C, Diciotti S, Romei V.
PMID: 34162949
Sci Rep. 2021 Jun 23;11(1):13487. doi: 10.1038/s41598-021-92571-8.

No abstract available.

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Trajkovic J, Di Gregorio F, Ferri F, et al. Publisher Correction: Resting state alpha oscillatory activity is a valid and reliable marker of schizotypy. Sci Rep. 2021;11(1):13487doi: 10.1038/s41598-021-92571-8.
Trajkovic, J., Di Gregorio, F., Ferri, F., Marzi, C., Diciotti, S., & Romei, V. (2021). Publisher Correction: Resting state alpha oscillatory activity is a valid and reliable marker of schizotypy. Scientific reports, 11(1), 13487. https://doi.org/10.1038/s41598-021-92571-8
Trajkovic, Jelena, et al. "Publisher Correction: Resting state alpha oscillatory activity is a valid and reliable marker of schizotypy." Scientific reports vol. 11,1 (2021): 13487. doi: https://doi.org/10.1038/s41598-021-92571-8
Trajkovic J, Di Gregorio F, Ferri F, Marzi C, Diciotti S, Romei V. Publisher Correction: Resting state alpha oscillatory activity is a valid and reliable marker of schizotypy. Sci Rep. 2021 Jun 23;11(1):13487. doi: 10.1038/s41598-021-92571-8. PMID: 34162949; PMCID: PMC8222399.
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Performance of Drying Technologies to Ensure Microbial Safety of Dried Fruits and Vegetables.

Comprehensive reviews in food science and food safety

Bourdoux S, Li D, Rajkovic A, Devlieghere F, Uyttendaele M.
PMID: 33401832
Compr Rev Food Sci Food Saf. 2016 Nov;15(6):1056-1066. doi: 10.1111/1541-4337.12224. Epub 2016 Sep 07.

Dried fruits, vegetables, herbs, and spices are produced in and sourced from many countries worldwide, but they have been increasingly reported to be involved in outbreaks and alerts due to the presence of foodborne pathogens such as Salmonella. These...

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Bourdoux S, Li D, Rajkovic A, et al. Performance of Drying Technologies to Ensure Microbial Safety of Dried Fruits and Vegetables. Compr Rev Food Sci Food Saf. 2016;15(6):1056-1066doi: 10.1111/1541-4337.12224.
Bourdoux, S., Li, D., Rajkovic, A., Devlieghere, F., & Uyttendaele, M. (2016). Performance of Drying Technologies to Ensure Microbial Safety of Dried Fruits and Vegetables. Comprehensive reviews in food science and food safety, 15(6), 1056-1066. https://doi.org/10.1111/1541-4337.12224
Bourdoux, Siméon, et al. "Performance of Drying Technologies to Ensure Microbial Safety of Dried Fruits and Vegetables." Comprehensive reviews in food science and food safety vol. 15,6 (2016): 1056-1066. doi: https://doi.org/10.1111/1541-4337.12224
Bourdoux S, Li D, Rajkovic A, Devlieghere F, Uyttendaele M. Performance of Drying Technologies to Ensure Microbial Safety of Dried Fruits and Vegetables. Compr Rev Food Sci Food Saf. 2016 Nov;15(6):1056-1066. doi: 10.1111/1541-4337.12224. Epub 2016 Sep 07. PMID: 33401832.
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Effects of .

Insects

Glavinic U, Rajkovic M, Vunduk J, Vejnovic B, Stevanovic J, Milenkovic I, Stanimirovic Z.
PMID: 34680684
Insects. 2021 Oct 07;12(10). doi: 10.3390/insects12100915.

No abstract available.

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Glavinic U, Rajkovic M, Vunduk J, et al. Effects of . Insects. 2021;12(10)doi: 10.3390/insects12100915.
Glavinic, U., Rajkovic, M., Vunduk, J., Vejnovic, B., Stevanovic, J., Milenkovic, I., & Stanimirovic, Z. (2021). Effects of . Insects, 12(10), . https://doi.org/10.3390/insects12100915
Glavinic, Uros, et al. "Effects of ." Insects vol. 12,10 (2021). doi: https://doi.org/10.3390/insects12100915
Glavinic U, Rajkovic M, Vunduk J, Vejnovic B, Stevanovic J, Milenkovic I, Stanimirovic Z. Effects of . Insects. 2021 Oct 07;12(10). doi: 10.3390/insects12100915. PMID: 34680684; PMCID: PMC8541333.
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Versatile human in vitro triple coculture model coincubated with adhered gut microbes reproducibly mimics pro-inflammatory host-microbe interactions in the colon.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology

Beterams A, De Paepe K, Maes L, Wise IJ, De Keersmaecker H, Rajkovic A, Laukens D, Van de Wiele T, Calatayud Arroyo M.
PMID: 34719821
FASEB J. 2021 Dec;35(12):e21992. doi: 10.1096/fj.202101135R.

The colonic epithelial barrier is vital to preserve gut and host health by maintaining the immune homeostasis between host and microbes. The mechanisms underlying beneficial or harmful host-microbe interactions are poorly understood and impossible to study in vivo given...

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Beterams A, De Paepe K, Maes L, et al. Versatile human in vitro triple coculture model coincubated with adhered gut microbes reproducibly mimics pro-inflammatory host-microbe interactions in the colon. FASEB J. 2021;35(12):e21992doi: 10.1096/fj.202101135R.
Beterams, A., De Paepe, K., Maes, L., Wise, I. J., De Keersmaecker, H., Rajkovic, A., Laukens, D., Van de Wiele, T., & Calatayud Arroyo, M. (2021). Versatile human in vitro triple coculture model coincubated with adhered gut microbes reproducibly mimics pro-inflammatory host-microbe interactions in the colon. FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 35(12), e21992. https://doi.org/10.1096/fj.202101135R
Beterams, Annelore, et al. "Versatile human in vitro triple coculture model coincubated with adhered gut microbes reproducibly mimics pro-inflammatory host-microbe interactions in the colon." FASEB journal : official publication of the Federation of American Societies for Experimental Biology vol. 35,12 (2021): e21992. doi: https://doi.org/10.1096/fj.202101135R
Beterams A, De Paepe K, Maes L, Wise IJ, De Keersmaecker H, Rajkovic A, Laukens D, Van de Wiele T, Calatayud Arroyo M. Versatile human in vitro triple coculture model coincubated with adhered gut microbes reproducibly mimics pro-inflammatory host-microbe interactions in the colon. FASEB J. 2021 Dec;35(12):e21992. doi: 10.1096/fj.202101135R. PMID: 34719821.
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Comparison of Supercritical CO.

Foods (Basel, Switzerland)

Tomic N, Djekic I, Hofland G, Smigic N, Udovicki B, Rajkovic A.
PMID: 32878141
Foods. 2020 Aug 31;9(9). doi: 10.3390/foods9091201.

The aim of this study was to compare the sensory quality and acceptance of dried ready-to-eat beetroot snacks as a result of different drying methods applied: supercritical CO

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Tomic N, Djekic I, Hofland G, et al. Comparison of Supercritical CO. Foods. 2020;9(9)doi: 10.3390/foods9091201.
Tomic, N., Djekic, I., Hofland, G., Smigic, N., Udovicki, B., & Rajkovic, A. (2020). Comparison of Supercritical CO. Foods (Basel, Switzerland), 9(9), . https://doi.org/10.3390/foods9091201
Tomic, Nikola, et al. "Comparison of Supercritical CO." Foods (Basel, Switzerland) vol. 9,9 (2020). doi: https://doi.org/10.3390/foods9091201
Tomic N, Djekic I, Hofland G, Smigic N, Udovicki B, Rajkovic A. Comparison of Supercritical CO. Foods. 2020 Aug 31;9(9). doi: 10.3390/foods9091201. PMID: 32878141; PMCID: PMC7554778.
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Complex Syndrome of the Complete Occlusion of the End of the Superior Mesenteric Vein, Opposed with the Stable Gastric Pentadecapeptide BPC 157 in Rats.

Biomedicines

Knezevic M, Gojkovic S, Krezic I, Zizek H, Vranes H, Malekinusic D, Vrdoljak B, Knezevic T, Horvat Pavlov K, Drmic D, Staroveski M, Djuzel A, Rajkovic Z, Kolak T, Lovric E, Milavic M, Sikiric S, Barisic I, Tepes M, Tvrdeic A, Patrlj L, Strbe S, Sola M, Situm A, Kokot A, Boban Blagaic A, Skrtic A, Seiwerth S, Sikiric P.
PMID: 34440233
Biomedicines. 2021 Aug 17;9(8). doi: 10.3390/biomedicines9081029.

No abstract available.

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Knezevic M, Gojkovic S, Krezic I, et al. Complex Syndrome of the Complete Occlusion of the End of the Superior Mesenteric Vein, Opposed with the Stable Gastric Pentadecapeptide BPC 157 in Rats. Biomedicines. 2021;9(8)doi: 10.3390/biomedicines9081029.
Knezevic, M., Gojkovic, S., Krezic, I., Zizek, H., Vranes, H., Malekinusic, D., Vrdoljak, B., Knezevic, T., Horvat Pavlov, K., Drmic, D., Staroveski, M., Djuzel, A., Rajkovic, Z., Kolak, T., Lovric, E., Milavic, M., Sikiric, S., Barisic, I., Tepes, M., Tvrdeic, A., Patrlj, L., Strbe, S., Sola, M., Situm, A., Kokot, A., Boban Blagaic, A., Skrtic, A., Seiwerth, S., & Sikiric, P. (2021). Complex Syndrome of the Complete Occlusion of the End of the Superior Mesenteric Vein, Opposed with the Stable Gastric Pentadecapeptide BPC 157 in Rats. Biomedicines, 9(8), . https://doi.org/10.3390/biomedicines9081029
Knezevic, Mario, et al. "Complex Syndrome of the Complete Occlusion of the End of the Superior Mesenteric Vein, Opposed with the Stable Gastric Pentadecapeptide BPC 157 in Rats." Biomedicines vol. 9,8 (2021). doi: https://doi.org/10.3390/biomedicines9081029
Knezevic M, Gojkovic S, Krezic I, Zizek H, Vranes H, Malekinusic D, Vrdoljak B, Knezevic T, Horvat Pavlov K, Drmic D, Staroveski M, Djuzel A, Rajkovic Z, Kolak T, Lovric E, Milavic M, Sikiric S, Barisic I, Tepes M, Tvrdeic A, Patrlj L, Strbe S, Sola M, Situm A, Kokot A, Boban Blagaic A, Skrtic A, Seiwerth S, Sikiric P. Complex Syndrome of the Complete Occlusion of the End of the Superior Mesenteric Vein, Opposed with the Stable Gastric Pentadecapeptide BPC 157 in Rats. Biomedicines. 2021 Aug 17;9(8). doi: 10.3390/biomedicines9081029. PMID: 34440233; PMCID: PMC8394093.
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Predictive waves in the autism-schizophrenia continuum: A novel biobehavioral model.

Neuroscience and biobehavioral reviews

Tarasi L, Trajkovic J, Diciotti S, di Pellegrino G, Ferri F, Ursino M, Romei V.
PMID: 34774901
Neurosci Biobehav Rev. 2021 Nov 11;132:1-22. doi: 10.1016/j.neubiorev.2021.11.006. Epub 2021 Nov 11.

The brain is a predictive machine. Converging data suggests a diametric predictive strategy from autism spectrum disorders (ASD) to schizophrenic spectrum disorders (SSD). Whereas perceptual inference in ASD is rigidly shaped by incoming sensory information, the SSD population is...

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Tarasi L, Trajkovic J, Diciotti S, et al. Predictive waves in the autism-schizophrenia continuum: A novel biobehavioral model. Neurosci Biobehav Rev. 2021;132:1-22doi: 10.1016/j.neubiorev.2021.11.006.
Tarasi, L., Trajkovic, J., Diciotti, S., di Pellegrino, G., Ferri, F., Ursino, M., & Romei, V. (2021). Predictive waves in the autism-schizophrenia continuum: A novel biobehavioral model. Neuroscience and biobehavioral reviews, 1321-22. https://doi.org/10.1016/j.neubiorev.2021.11.006
Tarasi, Luca, et al. "Predictive waves in the autism-schizophrenia continuum: A novel biobehavioral model." Neuroscience and biobehavioral reviews vol. 132 (2021): 1-22. doi: https://doi.org/10.1016/j.neubiorev.2021.11.006
Tarasi L, Trajkovic J, Diciotti S, di Pellegrino G, Ferri F, Ursino M, Romei V. Predictive waves in the autism-schizophrenia continuum: A novel biobehavioral model. Neurosci Biobehav Rev. 2021 Nov 11;132:1-22. doi: 10.1016/j.neubiorev.2021.11.006. Epub 2021 Nov 11. PMID: 34774901.
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