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Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.

Archives of medical science : AMS

Perrot A, Tomasov P, Villard E, Faludi R, Melacini P, Lossie J, Lohmann N, Richard P, De Bortoli M, Angelini A, Varga-Szemes A, Sperling SR, Simor T, Veselka J, Özcelik C, Charron P.
PMID: 27186169
Arch Med Sci. 2016 Apr 01;12(2):263-78. doi: 10.5114/aoms.2016.59250. Epub 2016 Apr 11.

INTRODUCTION: Transgenic mice overexpressing mutated NEBL, encoding the cardiac-specific Z-disk protein nebulette, develop severe cardiac phenotypes. Since cardiomyopathies are commonly familial and because mutations in a single gene may result in variable phenotypes, we tested the hypothesis that NEBL...

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Perrot A, Tomasov P, Villard E, et al. Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies. Arch Med Sci. 2016;12(2):263-78doi: 10.5114/aoms.2016.59250.
Perrot, A., Tomasov, P., Villard, E., Faludi, R., Melacini, P., Lossie, J., Lohmann, N., Richard, P., De Bortoli, M., Angelini, A., Varga-Szemes, A., Sperling, S. R., Simor, T., Veselka, J., Özcelik, C., & Charron, P. (2016). Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies. Archives of medical science : AMS, 12(2), 263-78. https://doi.org/10.5114/aoms.2016.59250
Perrot, Andreas, et al. "Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies." Archives of medical science : AMS vol. 12,2 (2016): 263-78. doi: https://doi.org/10.5114/aoms.2016.59250
Perrot A, Tomasov P, Villard E, Faludi R, Melacini P, Lossie J, Lohmann N, Richard P, De Bortoli M, Angelini A, Varga-Szemes A, Sperling SR, Simor T, Veselka J, Özcelik C, Charron P. Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies. Arch Med Sci. 2016 Apr 01;12(2):263-78. doi: 10.5114/aoms.2016.59250. Epub 2016 Apr 11. PMID: 27186169; PMCID: PMC4848357.
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Experimental strain analysis on the entire bony leg compared with FE analysis.

Journal of orthopaedics

Filardi V, Milardi D.
PMID: 27833359
J Orthop. 2016 Nov 02;14(1):115-122. doi: 10.1016/j.jor.2016.10.009. eCollection 2017 Mar.

The present study addresses the question of evaluating, by combining both experimental and numerical approaches, the stress/strain distribution within a complete model of the entire lower bony chain. With this purpose an experimental model and a complete 3D finite...

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Filardi V, Milardi D. Experimental strain analysis on the entire bony leg compared with FE analysis. J Orthop. 2016;14(1):115-122doi: 10.1016/j.jor.2016.10.009.
Filardi, V., & Milardi, D. (2017). Experimental strain analysis on the entire bony leg compared with FE analysis. Journal of orthopaedics, 14(1), 115-122. https://doi.org/10.1016/j.jor.2016.10.009
Filardi, V, and Milardi, D. "Experimental strain analysis on the entire bony leg compared with FE analysis." Journal of orthopaedics vol. 14,1 (2017): 115-122. doi: https://doi.org/10.1016/j.jor.2016.10.009
Filardi V, Milardi D. Experimental strain analysis on the entire bony leg compared with FE analysis. J Orthop. 2016 Nov 02;14(1):115-122. doi: 10.1016/j.jor.2016.10.009. eCollection 2017 Mar. PMID: 27833359; PMCID: PMC5096599.
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Nanotechnology's Impact on Medicinal Chemistry.

Mini reviews in medicinal chemistry

Hamilton W, Modi T, Waghwani HK, Tockstein S, Payne J, Filani O, Badwaik V, Shah M, Webb C, Lawrenz MB, Dakshinamurthy R.
PMID: 25963566
Mini Rev Med Chem. 2015 May 11; Epub 2015 May 11.

Nanotechnology has intrigued a large number of researchers the world over owing to its unique properties as compared to bulk materials, and the novelty of applications made possible across many fields of science. Researchers, taking advantage of the unique...

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Hamilton W, Modi T, Waghwani HK, et al. Nanotechnology's Impact on Medicinal Chemistry. Mini Rev Med Chem. 2015;
Hamilton, W., Modi, T., Waghwani, H. K., Tockstein, S., Payne, J., Filani, O., Badwaik, V., Shah, M., Webb, C., Lawrenz, M. B., & Dakshinamurthy, R. (2015). Nanotechnology's Impact on Medicinal Chemistry. Mini reviews in medicinal chemistry, .
Hamilton, William, et al. "Nanotechnology's Impact on Medicinal Chemistry." Mini reviews in medicinal chemistry vol. (2015).
Hamilton W, Modi T, Waghwani HK, Tockstein S, Payne J, Filani O, Badwaik V, Shah M, Webb C, Lawrenz MB, Dakshinamurthy R. Nanotechnology's Impact on Medicinal Chemistry. Mini Rev Med Chem. 2015 May 11; Epub 2015 May 11. PMID: 25963566.
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An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models.

Molecular therapy. Methods & clinical development

Gérard C, Xiao X, Filali M, Coulombe Z, Arsenault M, Couet J, Li J, Drolet MC, Chapdelaine P, Chikh A, Tremblay JP.
PMID: 26015982
Mol Ther Methods Clin Dev. 2014 Oct 08;1:14044. doi: 10.1038/mtm.2014.44. eCollection 2014.

Friedreich ataxia (FRDA) is a genetic disease due to increased repeats of the GAA trinucleotide in intron 1 of the frataxin gene. This mutation leads to a reduced expression of frataxin. We have produced an adeno-associated virus (AAV)9 coding...

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Gérard C, Xiao X, Filali M, et al. An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models. Mol Ther Methods Clin Dev. 2014;1:14044doi: 10.1038/mtm.2014.44.
Gérard, C., Xiao, X., Filali, M., Coulombe, Z., Arsenault, M., Couet, J., Li, J., Drolet, M. C., Chapdelaine, P., Chikh, A., & Tremblay, J. P. (2014). An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models. Molecular therapy. Methods & clinical development, 114044. https://doi.org/10.1038/mtm.2014.44
Gérard, Catherine, et al. "An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models." Molecular therapy. Methods & clinical development vol. 1 (2014): 14044. doi: https://doi.org/10.1038/mtm.2014.44
Gérard C, Xiao X, Filali M, Coulombe Z, Arsenault M, Couet J, Li J, Drolet MC, Chapdelaine P, Chikh A, Tremblay JP. An AAV9 coding for frataxin clearly improved the symptoms and prolonged the life of Friedreich ataxia mouse models. Mol Ther Methods Clin Dev. 2014 Oct 08;1:14044. doi: 10.1038/mtm.2014.44. eCollection 2014. PMID: 26015982; PMCID: PMC4362356.
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Erratum: Single-cell spatial reconstruction reveals global division of labour in the mammalian liver.

Nature

Halpern KB, Shenhav R, Matcovitch-Natan O, Tóth B, Lemze D, Golan M, Massasa EE, Baydatch S, Landen S, Moor AE, Brandis A, Giladi A, Stokar-Avihail A, David E, Amit I, Itzkovitz S.
PMID: 28297709
Nature. 2017 Mar 30;543(7647):742. doi: 10.1038/nature21729. Epub 2017 Mar 15.

No abstract available.

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Halpern KB, Shenhav R, Matcovitch-Natan O, et al. Erratum: Single-cell spatial reconstruction reveals global division of labour in the mammalian liver. Nature. 2017;543(7647):742doi: 10.1038/nature21729.
Halpern, K. B., Shenhav, R., Matcovitch-Natan, O., Tóth, B., Lemze, D., Golan, M., Massasa, E. E., Baydatch, S., Landen, S., Moor, A. E., Brandis, A., Giladi, A., Stokar-Avihail, A., David, E., Amit, I., & Itzkovitz, S. (2017). Erratum: Single-cell spatial reconstruction reveals global division of labour in the mammalian liver. Nature, 543(7647), 742. https://doi.org/10.1038/nature21729
Halpern, Keren Bahar, et al. "Erratum: Single-cell spatial reconstruction reveals global division of labour in the mammalian liver." Nature vol. 543,7647 (2017): 742. doi: https://doi.org/10.1038/nature21729
Halpern KB, Shenhav R, Matcovitch-Natan O, Tóth B, Lemze D, Golan M, Massasa EE, Baydatch S, Landen S, Moor AE, Brandis A, Giladi A, Stokar-Avihail A, David E, Amit I, Itzkovitz S. Erratum: Single-cell spatial reconstruction reveals global division of labour in the mammalian liver. Nature. 2017 Mar 30;543(7647):742. doi: 10.1038/nature21729. Epub 2017 Mar 15. PMID: 28297709.
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Peritoneal amyloidosis: unusual localization of gastrointestinal amyloidosis.

Clinical journal of gastroenterology

Karoui S, Haddad W, Serghini M, Ghorbel IB, Chebbi F, Azzouz H, Haouet S, Houmen H, Safta ZB, Boubaker J, Filali A.
PMID: 26189519
Clin J Gastroenterol. 2011 Aug;4(4):198-201. doi: 10.1007/s12328-011-0222-0. Epub 2011 May 28.

Amyloidosis is a rare disease that results from the extracellular deposition of amorphous fibrillar protein. It is usually observed in a systemic form. Gastrointestinal involvement is frequent but peritoneal localization is unusual. A 43-year-old male was investigated for nephritic...

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Karoui S, Haddad W, Serghini M, et al. Peritoneal amyloidosis: unusual localization of gastrointestinal amyloidosis. Clin J Gastroenterol. 2011;4(4):198-201doi: 10.1007/s12328-011-0222-0.
Karoui, S., Haddad, W., Serghini, M., Ghorbel, I. B., Chebbi, F., Azzouz, H., Haouet, S., Houmen, H., Safta, Z. B., Boubaker, J., & Filali, A. (2011). Peritoneal amyloidosis: unusual localization of gastrointestinal amyloidosis. Clinical journal of gastroenterology, 4(4), 198-201. https://doi.org/10.1007/s12328-011-0222-0
Karoui, Sami, et al. "Peritoneal amyloidosis: unusual localization of gastrointestinal amyloidosis." Clinical journal of gastroenterology vol. 4,4 (2011): 198-201. doi: https://doi.org/10.1007/s12328-011-0222-0
Karoui S, Haddad W, Serghini M, Ghorbel IB, Chebbi F, Azzouz H, Haouet S, Houmen H, Safta ZB, Boubaker J, Filali A. Peritoneal amyloidosis: unusual localization of gastrointestinal amyloidosis. Clin J Gastroenterol. 2011 Aug;4(4):198-201. doi: 10.1007/s12328-011-0222-0. Epub 2011 May 28. PMID: 26189519.
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The Dinitramide Anion, N(NO(2))(2)(-).

Inorganic chemistry

Christe KO, Wilson WW, Petrie MA, Michels HH, Bottaro JC, Gilardi R.
PMID: 11666716
Inorg Chem. 1996 Aug 14;35(17):5068-5071. doi: 10.1021/ic9601697.

The infrared and Raman spectra of the NH(4)(+), K(+), and Cs(+) salts of N(NO(2))(2)(-) in the solid state and in solution have been measured and are assigned with the help of ab initio calculations at the HF/6-31G and MP2/6-31+G...

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Christe KO, Wilson WW, Petrie MA, et al. The Dinitramide Anion, N(NO(2))(2)(-). Inorg Chem. 1996;35(17):5068-5071doi: 10.1021/ic9601697.
Christe, K. O., Wilson, W. W., Petrie, M. A., Michels, H. H., Bottaro, J. C., & Gilardi, R. (1996). The Dinitramide Anion, N(NO(2))(2)(-). Inorganic chemistry, 35(17), 5068-5071. https://doi.org/10.1021/ic9601697
Christe, Karl O., et al. "The Dinitramide Anion, N(NO(2))(2)(-)." Inorganic chemistry vol. 35,17 (1996): 5068-5071. doi: https://doi.org/10.1021/ic9601697
Christe KO, Wilson WW, Petrie MA, Michels HH, Bottaro JC, Gilardi R. The Dinitramide Anion, N(NO(2))(2)(-). Inorg Chem. 1996 Aug 14;35(17):5068-5071. doi: 10.1021/ic9601697. PMID: 11666716.
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Reactions of Benzotriazolo[2,1-a]benzotriazole Derivatives. 2. An Unusual Hydrolysis-Oxidation Reaction.

The Journal of organic chemistry

Subramanian G, Boyer JH, Trudell ML, Koppes WM, Sitzmann ME, Nock LA, Gilardi R, Russell TP.
PMID: 11667075
J Org Chem. 1996 Mar 08;61(5):1898-1900. doi: 10.1021/jo951889i.

No abstract available.

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Subramanian G, Boyer JH, Trudell ML, et al. Reactions of Benzotriazolo[2,1-a]benzotriazole Derivatives. 2. An Unusual Hydrolysis-Oxidation Reaction. J Org Chem. 1996;61(5):1898-1900doi: 10.1021/jo951889i.
Subramanian, G., Boyer, J. H., Trudell, M. L., Koppes, W. M., Sitzmann, M. E., Nock, L. A., Gilardi, R., & Russell, T. P. (1996). Reactions of Benzotriazolo[2,1-a]benzotriazole Derivatives. 2. An Unusual Hydrolysis-Oxidation Reaction. The Journal of organic chemistry, 61(5), 1898-1900. https://doi.org/10.1021/jo951889i
Subramanian, Ganesan, et al. "Reactions of Benzotriazolo[2,1-a]benzotriazole Derivatives. 2. An Unusual Hydrolysis-Oxidation Reaction." The Journal of organic chemistry vol. 61,5 (1996): 1898-1900. doi: https://doi.org/10.1021/jo951889i
Subramanian G, Boyer JH, Trudell ML, Koppes WM, Sitzmann ME, Nock LA, Gilardi R, Russell TP. Reactions of Benzotriazolo[2,1-a]benzotriazole Derivatives. 2. An Unusual Hydrolysis-Oxidation Reaction. J Org Chem. 1996 Mar 08;61(5):1898-1900. doi: 10.1021/jo951889i. PMID: 11667075.
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Failure to find mutations in ubiquitin carboxy-terminal hydrolase L1 gene in familial Parkinson's disease.

Parkinsonism & related disorders

Zhang J, Hattori N, Giladi N, Mizuno Y.
PMID: 10900393
Parkinsonism Relat Disord. 2000 Oct 01;6(4):199-200. doi: 10.1016/s1353-8020(00)00022-5.

Recently, a missense mutation (Ile93Met) of exon 4 in the ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene was identified in a German family with autosomal dominant Parkinson's disease (ADPD). To determine whether this mutation is responsible for familial Parkinson's disease...

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Zhang J, Hattori N, Giladi N, et al. Failure to find mutations in ubiquitin carboxy-terminal hydrolase L1 gene in familial Parkinson's disease. Parkinsonism Relat Disord. 2000;6(4):199-200doi: 10.1016/s1353-8020(00)00022-5.
Zhang, J., Hattori, N., Giladi, N., & Mizuno, Y. (2000). Failure to find mutations in ubiquitin carboxy-terminal hydrolase L1 gene in familial Parkinson's disease. Parkinsonism & related disorders, 6(4), 199-200. https://doi.org/10.1016/s1353-8020(00)00022-5
Zhang, et al. "Failure to find mutations in ubiquitin carboxy-terminal hydrolase L1 gene in familial Parkinson's disease." Parkinsonism & related disorders vol. 6,4 (2000): 199-200. doi: https://doi.org/10.1016/s1353-8020(00)00022-5
Zhang J, Hattori N, Giladi N, Mizuno Y. Failure to find mutations in ubiquitin carboxy-terminal hydrolase L1 gene in familial Parkinson's disease. Parkinsonism Relat Disord. 2000 Oct 01;6(4):199-200. doi: 10.1016/s1353-8020(00)00022-5. PMID: 10900393.
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Direct evidence for an intrinsic square vortex lattice in the overdoped high- T(c) superconductor La(1.83)Sr(0.17)CuO(4+delta).

Physical review letters

Gilardi R, Mesot J, Drew A, Divakar U, Lee SL, Forgan EM, Zaharko O, Conder K, Aswal VK, Dewhurst CD, Cubitt R, Momono N, Oda M.
PMID: 12059495
Phys Rev Lett. 2002 May 27;88(21):217003. doi: 10.1103/PhysRevLett.88.217003. Epub 2002 May 10.

We report here the first direct observations of a well ordered vortex lattice in the bulk of a La(2-x)Sr(x)CuO(4+delta) single crystal (slightly overdoped, x = 0.17). Our small angle neutron scattering investigation of the mixed phase reveals a crossover...

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Gilardi R, Mesot J, Drew A, et al. Direct evidence for an intrinsic square vortex lattice in the overdoped high- T(c) superconductor La(1.83)Sr(0.17)CuO(4+delta). Phys Rev Lett. 2002;88(21):217003doi: 10.1103/PhysRevLett.88.217003.
Gilardi, R., Mesot, J., Drew, A., Divakar, U., Lee, S. L., Forgan, E. M., Zaharko, O., Conder, K., Aswal, V. K., Dewhurst, C. D., Cubitt, R., Momono, N., & Oda, M. (2002). Direct evidence for an intrinsic square vortex lattice in the overdoped high- T(c) superconductor La(1.83)Sr(0.17)CuO(4+delta). Physical review letters, 88(21), 217003. https://doi.org/10.1103/PhysRevLett.88.217003
Gilardi, R, et al. "Direct evidence for an intrinsic square vortex lattice in the overdoped high- T(c) superconductor La(1.83)Sr(0.17)CuO(4+delta)." Physical review letters vol. 88,21 (2002): 217003. doi: https://doi.org/10.1103/PhysRevLett.88.217003
Gilardi R, Mesot J, Drew A, Divakar U, Lee SL, Forgan EM, Zaharko O, Conder K, Aswal VK, Dewhurst CD, Cubitt R, Momono N, Oda M. Direct evidence for an intrinsic square vortex lattice in the overdoped high- T(c) superconductor La(1.83)Sr(0.17)CuO(4+delta). Phys Rev Lett. 2002 May 27;88(21):217003. doi: 10.1103/PhysRevLett.88.217003. Epub 2002 May 10. PMID: 12059495.
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Muons as local probes of three-body correlations in the mixed state of type-II superconductors.

Physical review letters

Menon GI, Drew A, Divakar UK, Lee SL, Gilardi R, Mesot J, Ogrin FY, Charalambous D, Forgan EM, Momono N, Oda M, Dewhurst C, Baines C.
PMID: 17155499
Phys Rev Lett. 2006 Oct 27;97(17):177004. doi: 10.1103/PhysRevLett.97.177004. Epub 2006 Oct 27.

The vortex glass state formed by magnetic flux lines in a type-II superconductor is shown to possess nontrivial three-body correlations. While such correlations are usually difficult to measure in glassy systems, the magnetic fields associated with the flux vortices...

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Menon GI, Drew A, Divakar UK, et al. Muons as local probes of three-body correlations in the mixed state of type-II superconductors. Phys Rev Lett. 2006;97(17):177004doi: 10.1103/PhysRevLett.97.177004.
Menon, G. I., Drew, A., Divakar, U. K., Lee, S. L., Gilardi, R., Mesot, J., Ogrin, F. Y., Charalambous, D., Forgan, E. M., Momono, N., Oda, M., Dewhurst, C., & Baines, C. (2006). Muons as local probes of three-body correlations in the mixed state of type-II superconductors. Physical review letters, 97(17), 177004. https://doi.org/10.1103/PhysRevLett.97.177004
Menon, G I, et al. "Muons as local probes of three-body correlations in the mixed state of type-II superconductors." Physical review letters vol. 97,17 (2006): 177004. doi: https://doi.org/10.1103/PhysRevLett.97.177004
Menon GI, Drew A, Divakar UK, Lee SL, Gilardi R, Mesot J, Ogrin FY, Charalambous D, Forgan EM, Momono N, Oda M, Dewhurst C, Baines C. Muons as local probes of three-body correlations in the mixed state of type-II superconductors. Phys Rev Lett. 2006 Oct 27;97(17):177004. doi: 10.1103/PhysRevLett.97.177004. Epub 2006 Oct 27. PMID: 17155499.
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3,6-Di(azido)-1,2,4,5-tetrazine: a precursor for the preparation of carbon nanospheres and nitrogen-rich carbon nitrides.

Angewandte Chemie (International ed. in English)

Huynh MH, Hiskey MA, Archuleta JG, Roemer EL, Gilardi R.
PMID: 15495210
Angew Chem Int Ed Engl. 2004 Oct 25;43(42):5658-61. doi: 10.1002/anie.200460708.

No abstract available.

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Huynh MH, Hiskey MA, Archuleta JG, et al. 3,6-Di(azido)-1,2,4,5-tetrazine: a precursor for the preparation of carbon nanospheres and nitrogen-rich carbon nitrides. Angew Chem Int Ed Engl. 2004;43(42):5658-61doi: 10.1002/anie.200460708.
Huynh, M. H., Hiskey, M. A., Archuleta, J. G., Roemer, E. L., & Gilardi, R. (2004). 3,6-Di(azido)-1,2,4,5-tetrazine: a precursor for the preparation of carbon nanospheres and nitrogen-rich carbon nitrides. Angewandte Chemie (International ed. in English), 43(42), 5658-61. https://doi.org/10.1002/anie.200460708
Huynh, My Hang V, et al. "3,6-Di(azido)-1,2,4,5-tetrazine: a precursor for the preparation of carbon nanospheres and nitrogen-rich carbon nitrides." Angewandte Chemie (International ed. in English) vol. 43,42 (2004): 5658-61. doi: https://doi.org/10.1002/anie.200460708
Huynh MH, Hiskey MA, Archuleta JG, Roemer EL, Gilardi R. 3,6-Di(azido)-1,2,4,5-tetrazine: a precursor for the preparation of carbon nanospheres and nitrogen-rich carbon nitrides. Angew Chem Int Ed Engl. 2004 Oct 25;43(42):5658-61. doi: 10.1002/anie.200460708. PMID: 15495210.
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Showing 1 to 12 of 299 entries