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Validating the RedMIT/GFP-LC3 Mouse Model by Studying Mitophagy in Autosomal Dominant Optic Atrophy Due to the OPA1Q285STOP Mutation.

Frontiers in cell and developmental biology

Diot A, Agnew T, Sanderson J, Liao C, Carver J, Neves RPD, Gupta R, Guo Y, Waters C, Seto S, Daniels MJ, Dombi E, Lodge T, Morten K, Williams SA, Enver T, Iborra FJ, Votruba M, Poulton J.
PMID: 30283778
Front Cell Dev Biol. 2018 Sep 19;6:103. doi: 10.3389/fcell.2018.00103. eCollection 2018.

No abstract available.

Cite
Diot A, Agnew T, Sanderson J, et al. Validating the RedMIT/GFP-LC3 Mouse Model by Studying Mitophagy in Autosomal Dominant Optic Atrophy Due to the OPA1Q285STOP Mutation. Front Cell Dev Biol. 2018;6:103doi: 10.3389/fcell.2018.00103.
Diot, A., Agnew, T., Sanderson, J., Liao, C., Carver, J., Neves, R. P. D., Gupta, R., Guo, Y., Waters, C., Seto, S., Daniels, M. J., Dombi, E., Lodge, T., Morten, K., Williams, S. A., Enver, T., Iborra, F. J., Votruba, M., & Poulton, J. (2018). Validating the RedMIT/GFP-LC3 Mouse Model by Studying Mitophagy in Autosomal Dominant Optic Atrophy Due to the OPA1Q285STOP Mutation. Frontiers in cell and developmental biology, 6103. https://doi.org/10.3389/fcell.2018.00103
Diot, Alan, et al. "Validating the RedMIT/GFP-LC3 Mouse Model by Studying Mitophagy in Autosomal Dominant Optic Atrophy Due to the OPA1Q285STOP Mutation." Frontiers in cell and developmental biology vol. 6 (2018): 103. doi: https://doi.org/10.3389/fcell.2018.00103
Diot A, Agnew T, Sanderson J, Liao C, Carver J, Neves RPD, Gupta R, Guo Y, Waters C, Seto S, Daniels MJ, Dombi E, Lodge T, Morten K, Williams SA, Enver T, Iborra FJ, Votruba M, Poulton J. Validating the RedMIT/GFP-LC3 Mouse Model by Studying Mitophagy in Autosomal Dominant Optic Atrophy Due to the OPA1Q285STOP Mutation. Front Cell Dev Biol. 2018 Sep 19;6:103. doi: 10.3389/fcell.2018.00103. eCollection 2018. PMID: 30283778; PMCID: PMC6156146.
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Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.

Journal of inherited metabolic disease

Papandreou A, Rahman S, Fratter C, Ng J, Meyer E, Carr LJ, Champion M, Clarke A, Gissen P, Hemingway C, Hussain N, Jayawant S, King MD, Lynch BJ, Mewasingh L, Patel J, Prabhakar P, Neergheen V, Pope S, Heales SJR, Poulton J, Kurian MA.
PMID: 30456588
J Inherit Metab Dis. 2018 Nov;41(6):1299-1301. doi: 10.1007/s10545-018-0247-3.

Due to a typesetting error the wrong Table 2 was used. The correct Table 2 is shown here.

Cite
Papandreou A, Rahman S, Fratter C, et al. Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease. J Inherit Metab Dis. 2018;41(6):1299-1301doi: 10.1007/s10545-018-0247-3.
Papandreou, A., Rahman, S., Fratter, C., Ng, J., Meyer, E., Carr, L. J., Champion, M., Clarke, A., Gissen, P., Hemingway, C., Hussain, N., Jayawant, S., King, M. D., Lynch, B. J., Mewasingh, L., Patel, J., Prabhakar, P., Neergheen, V., Pope, S., Heales, S. J. R., Poulton, J., & Kurian, M. A. (2018). Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease. Journal of inherited metabolic disease, 41(6), 1299-1301. https://doi.org/10.1007/s10545-018-0247-3
Papandreou, A, et al. "Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease." Journal of inherited metabolic disease vol. 41,6 (2018): 1299-1301. doi: https://doi.org/10.1007/s10545-018-0247-3
Papandreou A, Rahman S, Fratter C, Ng J, Meyer E, Carr LJ, Champion M, Clarke A, Gissen P, Hemingway C, Hussain N, Jayawant S, King MD, Lynch BJ, Mewasingh L, Patel J, Prabhakar P, Neergheen V, Pope S, Heales SJR, Poulton J, Kurian MA. Correction to: Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease. J Inherit Metab Dis. 2018 Nov;41(6):1299-1301. doi: 10.1007/s10545-018-0247-3. PMID: 30456588; PMCID: PMC6828478.
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Very late-onset mitochondrial cytopathy featuring epilepsia partialis continua and bilateral deafness: A case report.

Seizure

Li MCH, Symmonds M, Pretorius PM, Sheerin F, Nithi K, Hofer M, Poulton J, Sen A.
PMID: 32088342
Seizure. 2020 Jan 28;76:153-155. doi: 10.1016/j.seizure.2020.01.020. Epub 2020 Jan 28.

No abstract available.

Cite
Li MCH, Symmonds M, Pretorius PM, et al. Very late-onset mitochondrial cytopathy featuring epilepsia partialis continua and bilateral deafness: A case report. Seizure. 2020;76:153-155doi: 10.1016/j.seizure.2020.01.020.
Li, M. C. H., Symmonds, M., Pretorius, P. M., Sheerin, F., Nithi, K., Hofer, M., Poulton, J., & Sen, A. (2020). Very late-onset mitochondrial cytopathy featuring epilepsia partialis continua and bilateral deafness: A case report. Seizure, 76153-155. https://doi.org/10.1016/j.seizure.2020.01.020
Li, Michael C H, et al. "Very late-onset mitochondrial cytopathy featuring epilepsia partialis continua and bilateral deafness: A case report." Seizure vol. 76 (2020): 153-155. doi: https://doi.org/10.1016/j.seizure.2020.01.020
Li MCH, Symmonds M, Pretorius PM, Sheerin F, Nithi K, Hofer M, Poulton J, Sen A. Very late-onset mitochondrial cytopathy featuring epilepsia partialis continua and bilateral deafness: A case report. Seizure. 2020 Jan 28;76:153-155. doi: 10.1016/j.seizure.2020.01.020. Epub 2020 Jan 28. PMID: 32088342.
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De novo .

Neurology. Genetics

Ladds E, Whitney A, Dombi E, Hofer M, Anand G, Harrison V, Fratter C, Carver J, Barbosa IA, Simpson M, Jayawant S, Poulton J.
PMID: 30109270
Neurol Genet. 2018 Aug 02;4(4):e258. doi: 10.1212/NXG.0000000000000258. eCollection 2018 Aug.

No abstract available.

Cite
Ladds E, Whitney A, Dombi E, et al. De novo . Neurol Genet. 2018;4(4):e258doi: 10.1212/NXG.0000000000000258.
Ladds, E., Whitney, A., Dombi, E., Hofer, M., Anand, G., Harrison, V., Fratter, C., Carver, J., Barbosa, I. A., Simpson, M., Jayawant, S., & Poulton, J. (2018). De novo . Neurology. Genetics, 4(4), e258. https://doi.org/10.1212/NXG.0000000000000258
Ladds, Emma, et al. "De novo ." Neurology. Genetics vol. 4,4 (2018): e258. doi: https://doi.org/10.1212/NXG.0000000000000258
Ladds E, Whitney A, Dombi E, Hofer M, Anand G, Harrison V, Fratter C, Carver J, Barbosa IA, Simpson M, Jayawant S, Poulton J. De novo . Neurol Genet. 2018 Aug 02;4(4):e258. doi: 10.1212/NXG.0000000000000258. eCollection 2018 Aug. PMID: 30109270; PMCID: PMC6089689.
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Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy.

Journal of clinical medicine

Levene M, Bain MD, Moran NF, Nirmalananthan N, Poulton J, Scarpelli M, Filosto M, Mandel H, MacKinnon AD, Fairbanks L, Pacitti D, Bax BE.
PMID: 30959750
J Clin Med. 2019 Apr 05;8(4). doi: 10.3390/jcm8040457.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare autosomal recessive disorder of nucleoside metabolism that is caused by mutations in the nuclear thymidine phosphorylase gene (

Cite
Levene M, Bain MD, Moran NF, et al. Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy. J Clin Med. 2019;8(4)doi: 10.3390/jcm8040457.
Levene, M., Bain, M. D., Moran, N. F., Nirmalananthan, N., Poulton, J., Scarpelli, M., Filosto, M., Mandel, H., MacKinnon, A. D., Fairbanks, L., Pacitti, D., & Bax, B. E. (2019). Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy. Journal of clinical medicine, 8(4), . https://doi.org/10.3390/jcm8040457
Levene, Michelle, et al. "Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy." Journal of clinical medicine vol. 8,4 (2019). doi: https://doi.org/10.3390/jcm8040457
Levene M, Bain MD, Moran NF, Nirmalananthan N, Poulton J, Scarpelli M, Filosto M, Mandel H, MacKinnon AD, Fairbanks L, Pacitti D, Bax BE. Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy. J Clin Med. 2019 Apr 05;8(4). doi: 10.3390/jcm8040457. PMID: 30959750; PMCID: PMC6517976.
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Showing 1 to 5 of 5 entries