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WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.

Parkinsonism & related disorders

Skorvanek M, Rektorova I, Mandemakers W, Wagner M, Steinfeld R, Orec L, Han V, Pavelekova P, Lackova A, Kulcsarova K, Ostrozovicova M, Gdovinova Z, Plecko B, Brunet T, Berutti R, Kuipers DJS, Boumeester V, Havrankova P, Tijssen MAJ, Kaiyrzhanov R, Rizig M, Houlden H, Winkelmann J, Bonifati V, Zech M, Jech R.
PMID: 34890876
Parkinsonism Relat Disord. 2021 Dec 02;94:54-61. doi: 10.1016/j.parkreldis.2021.11.030. Epub 2021 Dec 02.

INTRODUCTION: Sixteen subjects with biallelic WARS2 variants encoding the tryptophanyl mitochondrial aminoacyl-tRNA synthetase, presenting with a neonatal- or infantile-onset mitochondrial disease, have been reported to date. Here we present six novel cases with WARS2-related diseases and expand the spectrum...

Cite
Skorvanek M, Rektorova I, Mandemakers W, et al. WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia. Parkinsonism Relat Disord. 2021;94:54-61doi: 10.1016/j.parkreldis.2021.11.030.
Skorvanek, M., Rektorova, I., Mandemakers, W., Wagner, M., Steinfeld, R., Orec, L., Han, V., Pavelekova, P., Lackova, A., Kulcsarova, K., Ostrozovicova, M., Gdovinova, Z., Plecko, B., Brunet, T., Berutti, R., Kuipers, D. J. S., Boumeester, V., Havrankova, P., Tijssen, M. A. J., Kaiyrzhanov, R., Rizig, M., Houlden, H., Winkelmann, J., Bonifati, V., Zech, M., & Jech, R. (2021). WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia. Parkinsonism & related disorders, 9454-61. https://doi.org/10.1016/j.parkreldis.2021.11.030
Skorvanek, Matej, et al. "WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia." Parkinsonism & related disorders vol. 94 (2021): 54-61. doi: https://doi.org/10.1016/j.parkreldis.2021.11.030
Skorvanek M, Rektorova I, Mandemakers W, Wagner M, Steinfeld R, Orec L, Han V, Pavelekova P, Lackova A, Kulcsarova K, Ostrozovicova M, Gdovinova Z, Plecko B, Brunet T, Berutti R, Kuipers DJS, Boumeester V, Havrankova P, Tijssen MAJ, Kaiyrzhanov R, Rizig M, Houlden H, Winkelmann J, Bonifati V, Zech M, Jech R. WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia. Parkinsonism Relat Disord. 2021 Dec 02;94:54-61. doi: 10.1016/j.parkreldis.2021.11.030. Epub 2021 Dec 02. PMID: 34890876.
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Transmission Kikuchi diffraction: The impact of the signal-to-noise ratio.

Ultramicroscopy

Tokarski T, Nolze G, Winkelmann A, Rychłowski Ł, Bała P, Cios G.
PMID: 34479040
Ultramicroscopy. 2021 Nov;230:113372. doi: 10.1016/j.ultramic.2021.113372. Epub 2021 Aug 14.

Signal optimization for transmission Kikuchi diffraction (TKD) measurements in the scanning electron microscope is investigated by a comparison of different sample holder designs. An optimized design is presented, which uses a metal shield to efficiently trap the electron beam...

Cite
Tokarski T, Nolze G, Winkelmann A, et al. Transmission Kikuchi diffraction: The impact of the signal-to-noise ratio. Ultramicroscopy. 2021;230:113372doi: 10.1016/j.ultramic.2021.113372.
Tokarski, T., Nolze, G., Winkelmann, A., Rychłowski, �. �., Bała, P., & Cios, G. (2021). Transmission Kikuchi diffraction: The impact of the signal-to-noise ratio. Ultramicroscopy, 230113372. https://doi.org/10.1016/j.ultramic.2021.113372
Tokarski, Tomasz, et al. "Transmission Kikuchi diffraction: The impact of the signal-to-noise ratio." Ultramicroscopy vol. 230 (2021): 113372. doi: https://doi.org/10.1016/j.ultramic.2021.113372
Tokarski T, Nolze G, Winkelmann A, Rychłowski Ł, Bała P, Cios G. Transmission Kikuchi diffraction: The impact of the signal-to-noise ratio. Ultramicroscopy. 2021 Nov;230:113372. doi: 10.1016/j.ultramic.2021.113372. Epub 2021 Aug 14. PMID: 34479040.
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Stochastic pH Oscillations in a Model of the Urea-Urease Reaction Confined to Lipid Vesicles.

The journal of physical chemistry letters

Straube AV, Winkelmann S, Schütte C, Höfling F.
PMID: 34609862
J Phys Chem Lett. 2021 Oct 14;12(40):9888-9893. doi: 10.1021/acs.jpclett.1c03016. Epub 2021 Oct 05.

The urea-urease clock reaction is a pH switch from acid to basic that can turn into a pH oscillator if it occurs inside a suitable open reactor. We numerically study the confinement of the reaction to lipid vesicles, which...

Cite
Straube AV, Winkelmann S, Schütte C, et al. Stochastic pH Oscillations in a Model of the Urea-Urease Reaction Confined to Lipid Vesicles. J Phys Chem Lett. 2021;12(40):9888-9893doi: 10.1021/acs.jpclett.1c03016.
Straube, A. V., Winkelmann, S., Schütte, C., & Höfling, F. (2021). Stochastic pH Oscillations in a Model of the Urea-Urease Reaction Confined to Lipid Vesicles. The journal of physical chemistry letters, 12(40), 9888-9893. https://doi.org/10.1021/acs.jpclett.1c03016
Straube, Arthur V, et al. "Stochastic pH Oscillations in a Model of the Urea-Urease Reaction Confined to Lipid Vesicles." The journal of physical chemistry letters vol. 12,40 (2021): 9888-9893. doi: https://doi.org/10.1021/acs.jpclett.1c03016
Straube AV, Winkelmann S, Schütte C, Höfling F. Stochastic pH Oscillations in a Model of the Urea-Urease Reaction Confined to Lipid Vesicles. J Phys Chem Lett. 2021 Oct 14;12(40):9888-9893. doi: 10.1021/acs.jpclett.1c03016. Epub 2021 Oct 05. PMID: 34609862.
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WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia.

Parkinsonism & related disorders

Skorvanek M, Rektorova I, Mandemakers W, Wagner M, Steinfeld R, Orec L, Han V, Pavelekova P, Lackova A, Kulcsarova K, Ostrozovicova M, Gdovinova Z, Plecko B, Brunet T, Berutti R, Kuipers DJS, Boumeester V, Havrankova P, Tijssen MAJ, Kaiyrzhanov R, Rizig M, Houlden H, Winkelmann J, Bonifati V, Zech M, Jech R.
PMID: 34890876
Parkinsonism Relat Disord. 2021 Dec 02;94:54-61. doi: 10.1016/j.parkreldis.2021.11.030. Epub 2021 Dec 02.

INTRODUCTION: Sixteen subjects with biallelic WARS2 variants encoding the tryptophanyl mitochondrial aminoacyl-tRNA synthetase, presenting with a neonatal- or infantile-onset mitochondrial disease, have been reported to date. Here we present six novel cases with WARS2-related diseases and expand the spectrum...

Cite
Skorvanek M, Rektorova I, Mandemakers W, et al. WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia. Parkinsonism Relat Disord. 2021;94:54-61doi: 10.1016/j.parkreldis.2021.11.030.
Skorvanek, M., Rektorova, I., Mandemakers, W., Wagner, M., Steinfeld, R., Orec, L., Han, V., Pavelekova, P., Lackova, A., Kulcsarova, K., Ostrozovicova, M., Gdovinova, Z., Plecko, B., Brunet, T., Berutti, R., Kuipers, D. J. S., Boumeester, V., Havrankova, P., Tijssen, M. A. J., Kaiyrzhanov, R., Rizig, M., Houlden, H., Winkelmann, J., Bonifati, V., Zech, M., & Jech, R. (2021). WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia. Parkinsonism & related disorders, 9454-61. https://doi.org/10.1016/j.parkreldis.2021.11.030
Skorvanek, Matej, et al. "WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia." Parkinsonism & related disorders vol. 94 (2021): 54-61. doi: https://doi.org/10.1016/j.parkreldis.2021.11.030
Skorvanek M, Rektorova I, Mandemakers W, Wagner M, Steinfeld R, Orec L, Han V, Pavelekova P, Lackova A, Kulcsarova K, Ostrozovicova M, Gdovinova Z, Plecko B, Brunet T, Berutti R, Kuipers DJS, Boumeester V, Havrankova P, Tijssen MAJ, Kaiyrzhanov R, Rizig M, Houlden H, Winkelmann J, Bonifati V, Zech M, Jech R. WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia. Parkinsonism Relat Disord. 2021 Dec 02;94:54-61. doi: 10.1016/j.parkreldis.2021.11.030. Epub 2021 Dec 02. PMID: 34890876.
Copy Download .nbib Format: NLM
Showing 385 to 388 of 388 entries