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Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.

Genetics in medicine : official journal of the American College of Medical Genetics

Hikmat O, Tzoulis C, Chong WK, Chentouf L, Klingenberg C, Fratter C, Carr LJ, Prabhakar P, Kumaraguru N, Gissen P, Cross JH, Jacques TS, Taanman JW, Bindoff LA, Rahman S.
PMID: 30228318
Genet Med. 2019 Apr;21(4):1027. doi: 10.1038/s41436-018-0098-1.

Since the online publication of the article, the authors have noted errors with Table 2; this has now been corrected in both the HTML and the PDF.

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Hikmat O, Tzoulis C, Chong WK, et al. Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genet Med. 2019;21(4):1027doi: 10.1038/s41436-018-0098-1.
Hikmat, O., Tzoulis, C., Chong, W. K., Chentouf, L., Klingenberg, C., Fratter, C., Carr, L. J., Prabhakar, P., Kumaraguru, N., Gissen, P., Cross, J. H., Jacques, T. S., Taanman, J. W., Bindoff, L. A., & Rahman, S. (2019). Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genetics in medicine : official journal of the American College of Medical Genetics, 21(4), 1027. https://doi.org/10.1038/s41436-018-0098-1
Hikmat, Omar, et al. "Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations." Genetics in medicine : official journal of the American College of Medical Genetics vol. 21,4 (2019): 1027. doi: https://doi.org/10.1038/s41436-018-0098-1
Hikmat O, Tzoulis C, Chong WK, Chentouf L, Klingenberg C, Fratter C, Carr LJ, Prabhakar P, Kumaraguru N, Gissen P, Cross JH, Jacques TS, Taanman JW, Bindoff LA, Rahman S. Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genet Med. 2019 Apr;21(4):1027. doi: 10.1038/s41436-018-0098-1. PMID: 30228318.
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The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019.

Nucleic acids research

Buniello A, MacArthur JAL, Cerezo M, Harris LW, Hayhurst J, Malangone C, McMahon A, Morales J, Mountjoy E, Sollis E, Suveges D, Vrousgou O, Whetzel PL, Amode R, Guillen JA, Riat HS, Trevanion SJ, Hall P, Junkins H, Flicek P, Burdett T, Hindorff LA, Cunningham F, Parkinson H.
PMID: 30445434
Nucleic Acids Res. 2019 Jan 08;47:D1005-D1012. doi: 10.1093/nar/gky1120.

The GWAS Catalog delivers a high-quality curated collection of all published genome-wide association studies enabling investigations to identify causal variants, understand disease mechanisms, and establish targets for novel therapies. The scope of the Catalog has also expanded to targeted...

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Buniello A, MacArthur JAL, Cerezo M, et al. The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019. Nucleic Acids Res. 2019;47:D1005-D1012doi: 10.1093/nar/gky1120.
Buniello, A., MacArthur, J. A. L., Cerezo, M., Harris, L. W., Hayhurst, J., Malangone, C., McMahon, A., Morales, J., Mountjoy, E., Sollis, E., Suveges, D., Vrousgou, O., Whetzel, P. L., Amode, R., Guillen, J. A., Riat, H. S., Trevanion, S. J., Hall, P., Junkins, H., Flicek, P., Burdett, T., Hindorff, L. A., Cunningham, F., & Parkinson, H. (2019). The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019. Nucleic acids research, 47D1005-D1012. https://doi.org/10.1093/nar/gky1120
Buniello, Annalisa, et al. "The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019." Nucleic acids research vol. 47 (2019): D1005-D1012. doi: https://doi.org/10.1093/nar/gky1120
Buniello A, MacArthur JAL, Cerezo M, Harris LW, Hayhurst J, Malangone C, McMahon A, Morales J, Mountjoy E, Sollis E, Suveges D, Vrousgou O, Whetzel PL, Amode R, Guillen JA, Riat HS, Trevanion SJ, Hall P, Junkins H, Flicek P, Burdett T, Hindorff LA, Cunningham F, Parkinson H. The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019. Nucleic Acids Res. 2019 Jan 08;47:D1005-D1012. doi: 10.1093/nar/gky1120. PMID: 30445434; PMCID: PMC6323933.
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Consensus-based statements for the management of mitochondrial stroke-like episodes.

Wellcome open research

Ng YS, Bindoff LA, Gorman GS, Horvath R, Klopstock T, Mancuso M, Martikainen MH, Mcfarland R, Nesbitt V, Pitceathly RDS, Schaefer AM, Turnbull DM.
PMID: 32090171
Wellcome Open Res. 2019 Dec 13;4:201. doi: 10.12688/wellcomeopenres.15599.1. eCollection 2019.

No abstract available.

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Ng YS, Bindoff LA, Gorman GS, et al. Consensus-based statements for the management of mitochondrial stroke-like episodes. Wellcome Open Res. 2019;4:201doi: 10.12688/wellcomeopenres.15599.1.
Ng, Y. S., Bindoff, L. A., Gorman, G. S., Horvath, R., Klopstock, T., Mancuso, M., Martikainen, M. H., Mcfarland, R., Nesbitt, V., Pitceathly, R. D. S., Schaefer, A. M., & Turnbull, D. M. (2019). Consensus-based statements for the management of mitochondrial stroke-like episodes. Wellcome open research, 4201. https://doi.org/10.12688/wellcomeopenres.15599.1
Ng, Yi Shiau, et al. "Consensus-based statements for the management of mitochondrial stroke-like episodes." Wellcome open research vol. 4 (2019): 201. doi: https://doi.org/10.12688/wellcomeopenres.15599.1
Ng YS, Bindoff LA, Gorman GS, Horvath R, Klopstock T, Mancuso M, Martikainen MH, Mcfarland R, Nesbitt V, Pitceathly RDS, Schaefer AM, Turnbull DM. Consensus-based statements for the management of mitochondrial stroke-like episodes. Wellcome Open Res. 2019 Dec 13;4:201. doi: 10.12688/wellcomeopenres.15599.1. eCollection 2019. PMID: 32090171; PMCID: PMC7014928.
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Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome".

Journal of inherited metabolic disease

Bindoff LA, Brown DA, Gorman GS, Karaa A, Keshavan N, Lamperti C, Mancuso M, McFarland R, Ng YS, O'Callaghan M, Pitceathly RDS, Rahman S, Russel FGM, Schirris TJJ, Varhaug KN, De Vries MC.
PMID: 33159463
J Inherit Metab Dis. 2021 Jan;44(1):6-7. doi: 10.1002/jimd.12329. Epub 2020 Nov 18.

No abstract available.

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Bindoff LA, Brown DA, Gorman GS, et al. Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome". J Inherit Metab Dis. 2020;44(1):6-7doi: 10.1002/jimd.12329.
Bindoff, L. A., Brown, D. A., Gorman, G. S., Karaa, A., Keshavan, N., Lamperti, C., Mancuso, M., McFarland, R., Ng, Y. S., O'Callaghan, M., Pitceathly, R. D. S., Rahman, S., Russel, F. G. M., Schirris, T. J. J., Varhaug, K. N., & De Vries, M. C. (2021). Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome". Journal of inherited metabolic disease, 44(1), 6-7. https://doi.org/10.1002/jimd.12329
Bindoff, Laurence A, et al. "Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome"." Journal of inherited metabolic disease vol. 44,1 (2021): 6-7. doi: https://doi.org/10.1002/jimd.12329
Bindoff LA, Brown DA, Gorman GS, Karaa A, Keshavan N, Lamperti C, Mancuso M, McFarland R, Ng YS, O'Callaghan M, Pitceathly RDS, Rahman S, Russel FGM, Schirris TJJ, Varhaug KN, De Vries MC. Comment on "A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome". J Inherit Metab Dis. 2021 Jan;44(1):6-7. doi: 10.1002/jimd.12329. Epub 2020 Nov 18. PMID: 33159463.
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Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

Genome medicine

Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad UW, Brenman LM, Martinez-Agosto JA, Might M, Miller DT, Minks KQ, Moghaddam B, Nava C, Nelson SF, Parant JM, Prescott T, Rajabi F, Randrianaivo H, Reiter SF, Schuurs-Hoeijmakers J, Shieh PB, Slavotinek A, Smithson S, Stegmann APA, Tomczak K, Tveten K, Wang J, Whitlock JH, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo NC, Kreienkamp HJ, Lessel D.
PMID: 34020708
Genome Med. 2021 May 21;13(1):90. doi: 10.1186/s13073-021-00900-3.

BACKGROUND: We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder.METHODS: Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network...

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Mannucci I, Dang NDP, Huber H, et al. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome Med. 2021;13(1):90doi: 10.1186/s13073-021-00900-3.
Mannucci, I., Dang, N. D. P., Huber, H., Murry, J. B., Abramson, J., Althoff, T., Banka, S., Baynam, G., Bearden, D., Beleza-Meireles, A., Benke, P. J., Berland, S., Bierhals, T., Bilan, F., Bindoff, L. A., Braathen, G. J., Busk, �. �. L., Chenbhanich, J., Denecke, J., Escobar, L. F., Estes, C., Fleischer, J., Groepper, D., Haaxma, C. A., Hempel, M., Holler-Managan, Y., Houge, G., Jackson, A., Kellogg, L., Keren, B., Kiraly-Borri, C., Kraus, C., Kubisch, C., Le Guyader, G., Ljungblad, U. W., Brenman, L. M., Martinez-Agosto, J. A., Might, M., Miller, D. T., Minks, K. Q., Moghaddam, B., Nava, C., Nelson, S. F., Parant, J. M., Prescott, T., Rajabi, F., Randrianaivo, H., Reiter, S. F., Schuurs-Hoeijmakers, J., Shieh, P. B., Slavotinek, A., Smithson, S., Stegmann, A. P. A., Tomczak, K., Tveten, K., Wang, J., Whitlock, J. H., Zweier, C., McWalter, K., Juusola, J., Quintero-Rivera, F., Fischer, U., Yeo, N. C., Kreienkamp, H. J., & Lessel, D. (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome medicine, 13(1), 90. https://doi.org/10.1186/s13073-021-00900-3
Mannucci, Ilaria, et al. "Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders." Genome medicine vol. 13,1 (2021): 90. doi: https://doi.org/10.1186/s13073-021-00900-3
Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad UW, Brenman LM, Martinez-Agosto JA, Might M, Miller DT, Minks KQ, Moghaddam B, Nava C, Nelson SF, Parant JM, Prescott T, Rajabi F, Randrianaivo H, Reiter SF, Schuurs-Hoeijmakers J, Shieh PB, Slavotinek A, Smithson S, Stegmann APA, Tomczak K, Tveten K, Wang J, Whitlock JH, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo NC, Kreienkamp HJ, Lessel D. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome Med. 2021 May 21;13(1):90. doi: 10.1186/s13073-021-00900-3. PMID: 34020708; PMCID: PMC8140440.
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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

American journal of human genetics

Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH.
PMID: 27392080
Am J Hum Genet. 2016 Jul 07;99(1):246. doi: 10.1016/j.ajhg.2016.06.002.

No abstract available.

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Green RC, Goddard KA, Jarvik GP, et al. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016;99(1):246doi: 10.1016/j.ajhg.2016.06.002.
Green, R. C., Goddard, K. A., Jarvik, G. P., Amendola, L. M., Appelbaum, P. S., Berg, J. S., Bernhardt, B. A., Biesecker, L. G., Biswas, S., Blout, C. L., Bowling, K. M., Brothers, K. B., Burke, W., Caga-Anan, C. F., Chinnaiyan, A. M., Chung, W. K., Clayton, E. W., Cooper, G. M., East, K., Evans, J. P., Fullerton, S. M., Garraway, L. A., Garrett, J. R., Gray, S. W., Henderson, G. E., Hindorff, L. A., Holm, I. A., Lewis, M. H., Hutter, C. M., Janne, P. A., Joffe, S., Kaufman, D., Knoppers, B. M., Koenig, B. A., Krantz, I. D., Manolio, T. A., McCullough, L., McEwen, J., McGuire, A., Muzny, D., Myers, R. M., Nickerson, D. A., Ou, J., Parsons, D. W., Petersen, G. M., Plon, S. E., Rehm, H. L., Roberts, J. S., Robinson, D., Salama, J. S., Scollon, S., Sharp, R. R., Shirts, B., Spinner, N. B., Tabor, H. K., Tarczy-Hornoch, P., Veenstra, D. L., Wagle, N., Weck, K., Wilfond, B. S., Wilhelmsen, K., Wolf, S. M., Wynn, J., Yu, J. H. (2016). Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. American journal of human genetics, 99(1), 246. https://doi.org/10.1016/j.ajhg.2016.06.002
Green, Robert C, et al. "Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine." American journal of human genetics vol. 99,1 (2016): 246. doi: https://doi.org/10.1016/j.ajhg.2016.06.002
Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 Jul 07;99(1):246. doi: 10.1016/j.ajhg.2016.06.002. PMID: 27392080; PMCID: PMC5005464.
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Generalization and fine mapping of red blood cell trait genetic associations to multi-ethnic populations: The PAGE Study.

American journal of hematology

Jo Hodonsky C, Schurmann C, Schick UM, Kocarnik J, Tao R, van Rooij FJ, Wassel C, Buyske S, Fornage M, Hindorff LA, Floyd JS, Ganesh SK, Lin DY, North KE, Reiner AP, Loos RJ, Kooperberg C, Avery CL.
PMID: 29905378
Am J Hematol. 2018 Jun 15; doi: 10.1002/ajh.25161. Epub 2018 Jun 15.

Red blood cell (RBC) traits provide insight into a wide range of physiological states and exhibit moderate to high heritability, making them excellent candidates for genetic studies to inform underlying biologic mechanisms. Previous RBC trait genome-wide association studies were...

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Jo Hodonsky C, Schurmann C, Schick UM, et al. Generalization and fine mapping of red blood cell trait genetic associations to multi-ethnic populations: The PAGE Study. Am J Hematol. 2018;doi: 10.1002/ajh.25161.
Jo Hodonsky, C., Schurmann, C., Schick, U. M., Kocarnik, J., Tao, R., van Rooij, F. J., Wassel, C., Buyske, S., Fornage, M., Hindorff, L. A., Floyd, J. S., Ganesh, S. K., Lin, D. Y., North, K. E., Reiner, A. P., Loos, R. J., Kooperberg, C., & Avery, C. L. (2018). Generalization and fine mapping of red blood cell trait genetic associations to multi-ethnic populations: The PAGE Study. American journal of hematology, . https://doi.org/10.1002/ajh.25161
Jo Hodonsky, Chani, et al. "Generalization and fine mapping of red blood cell trait genetic associations to multi-ethnic populations: The PAGE Study." American journal of hematology vol. (2018). doi: https://doi.org/10.1002/ajh.25161
Jo Hodonsky C, Schurmann C, Schick UM, Kocarnik J, Tao R, van Rooij FJ, Wassel C, Buyske S, Fornage M, Hindorff LA, Floyd JS, Ganesh SK, Lin DY, North KE, Reiner AP, Loos RJ, Kooperberg C, Avery CL. Generalization and fine mapping of red blood cell trait genetic associations to multi-ethnic populations: The PAGE Study. Am J Hematol. 2018 Jun 15; doi: 10.1002/ajh.25161. Epub 2018 Jun 15. PMID: 29905378; PMCID: PMC6300146.
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Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish.

Frontiers in molecular neuroscience

Pakdaman Y, Denker E, Austad E, Norton WHJ, Rolfsnes HO, Bindoff LA, Tzoulis C, Aukrust I, Knappskog PM, Johansson S, Ellingsen S.
PMID: 34630034
Front Mol Neurosci. 2021 Sep 24;14:723912. doi: 10.3389/fnmol.2021.723912. eCollection 2021.

The ubiquitin ligase CHIP (C-terminus of Hsc70-interacting protein) is encoded by

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Pakdaman Y, Denker E, Austad E, et al. Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish. Front Mol Neurosci. 2021;14:723912doi: 10.3389/fnmol.2021.723912.
Pakdaman, Y., Denker, E., Austad, E., Norton, W. H. J., Rolfsnes, H. O., Bindoff, L. A., Tzoulis, C., Aukrust, I., Knappskog, P. M., Johansson, S., & Ellingsen, S. (2021). Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish. Frontiers in molecular neuroscience, 14723912. https://doi.org/10.3389/fnmol.2021.723912
Pakdaman, Yasaman, et al. "Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish." Frontiers in molecular neuroscience vol. 14 (2021): 723912. doi: https://doi.org/10.3389/fnmol.2021.723912
Pakdaman Y, Denker E, Austad E, Norton WHJ, Rolfsnes HO, Bindoff LA, Tzoulis C, Aukrust I, Knappskog PM, Johansson S, Ellingsen S. Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish. Front Mol Neurosci. 2021 Sep 24;14:723912. doi: 10.3389/fnmol.2021.723912. eCollection 2021. PMID: 34630034; PMCID: PMC8497888.
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Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.

Journal of medical genetics

Björkman K, Vissing J, Østergaard E, Bindoff LA, de Coo IFM, Engvall M, Hikmat O, Isohanni P, Kollberg G, Lindberg C, Majamaa K, Naess K, Uusimaa J, Tulinius M, Darin N.
PMID: 34872991
J Med Genet. 2021 Dec 06; doi: 10.1136/jmedgenet-2021-108006. Epub 2021 Dec 06.

BACKGROUND: Large-scale mitochondrial DNA deletions (LMD) are a common genetic cause of mitochondrial disease and give rise to a wide range of clinical features. Lack of longitudinal data means the natural history remains unclear. This study was undertaken to...

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Björkman K, Vissing J, Østergaard E, et al. Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study. J Med Genet. 2021;doi: 10.1136/jmedgenet-2021-108006.
Björkman, K., Vissing, J., Østergaard, E., Bindoff, L. A., de Coo, I. F. M., Engvall, M., Hikmat, O., Isohanni, P., Kollberg, G., Lindberg, C., Majamaa, K., Naess, K., Uusimaa, J., Tulinius, M., & Darin, N. (2021). Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study. Journal of medical genetics, . https://doi.org/10.1136/jmedgenet-2021-108006
Björkman, Kristoffer, et al. "Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study." Journal of medical genetics vol. (2021). doi: https://doi.org/10.1136/jmedgenet-2021-108006
Björkman K, Vissing J, Østergaard E, Bindoff LA, de Coo IFM, Engvall M, Hikmat O, Isohanni P, Kollberg G, Lindberg C, Majamaa K, Naess K, Uusimaa J, Tulinius M, Darin N. Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study. J Med Genet. 2021 Dec 06; doi: 10.1136/jmedgenet-2021-108006. Epub 2021 Dec 06. PMID: 34872991.
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Examining access to care in clinical genomic research and medicine: Experiences from the CSER Consortium.

Journal of clinical and translational science

Gutierrez AM, Robinson JO, Outram SM, Smith HS, Kraft SA, Donohue KE, Biesecker BB, Brothers KB, Chen F, Hailu B, Hindorff LA, Hoban H, Hsu RL, Knight SJ, Koenig BA, Lewis KL, Lich KH, O'Daniel JM, Okuyama S, Tomlinson GE, Waltz M, Wilfond BS, Ackerman SL, Majumder MA.
PMID: 34888063
J Clin Transl Sci. 2021 Sep 14;5(1):e193. doi: 10.1017/cts.2021.855. eCollection 2021.

INTRODUCTION: Ensuring equitable access to health care is a widely agreed-upon goal in medicine, yet access to care is a multidimensional concept that is difficult to measure. Although frameworks exist to evaluate access to care generally, the concept of...

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Gutierrez AM, Robinson JO, Outram SM, et al. Examining access to care in clinical genomic research and medicine: Experiences from the CSER Consortium. J Clin Transl Sci. 2021;5(1):e193doi: 10.1017/cts.2021.855.
Gutierrez, A. M., Robinson, J. O., Outram, S. M., Smith, H. S., Kraft, S. A., Donohue, K. E., Biesecker, B. B., Brothers, K. B., Chen, F., Hailu, B., Hindorff, L. A., Hoban, H., Hsu, R. L., Knight, S. J., Koenig, B. A., Lewis, K. L., Lich, K. H., O'Daniel, J. M., Okuyama, S., Tomlinson, G. E., Waltz, M., Wilfond, B. S., Ackerman, S. L., & Majumder, M. A. (2021). Examining access to care in clinical genomic research and medicine: Experiences from the CSER Consortium. Journal of clinical and translational science, 5(1), e193. https://doi.org/10.1017/cts.2021.855
Gutierrez, Amanda M, et al. "Examining access to care in clinical genomic research and medicine: Experiences from the CSER Consortium." Journal of clinical and translational science vol. 5,1 (2021): e193. doi: https://doi.org/10.1017/cts.2021.855
Gutierrez AM, Robinson JO, Outram SM, Smith HS, Kraft SA, Donohue KE, Biesecker BB, Brothers KB, Chen F, Hailu B, Hindorff LA, Hoban H, Hsu RL, Knight SJ, Koenig BA, Lewis KL, Lich KH, O'Daniel JM, Okuyama S, Tomlinson GE, Waltz M, Wilfond BS, Ackerman SL, Majumder MA. Examining access to care in clinical genomic research and medicine: Experiences from the CSER Consortium. J Clin Transl Sci. 2021 Sep 14;5(1):e193. doi: 10.1017/cts.2021.855. eCollection 2021. PMID: 34888063; PMCID: PMC8634302.
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Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration.

Biomedicines

Brunetti D, Catania A, Viscomi C, Deleidi M, Bindoff LA, Ghezzi D, Zeviani M.
PMID: 34356897
Biomedicines. 2021 Jul 17;9(7). doi: 10.3390/biomedicines9070833.

Mounting evidence shows a link between mitochondrial dysfunction and neurodegenerative disorders, including Alzheimer Disease. Increased oxidative stress, defective mitodynamics, and impaired oxidative phosphorylation leading to decreased ATP production, can determine synaptic dysfunction, apoptosis, and neurodegeneration. Furthermore, mitochondrial proteostasis and...

Cite
Brunetti D, Catania A, Viscomi C, et al. Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration. Biomedicines. 2021;9(7)doi: 10.3390/biomedicines9070833.
Brunetti, D., Catania, A., Viscomi, C., Deleidi, M., Bindoff, L. A., Ghezzi, D., & Zeviani, M. (2021). Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration. Biomedicines, 9(7), . https://doi.org/10.3390/biomedicines9070833
Brunetti, Dario, et al. "Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration." Biomedicines vol. 9,7 (2021). doi: https://doi.org/10.3390/biomedicines9070833
Brunetti D, Catania A, Viscomi C, Deleidi M, Bindoff LA, Ghezzi D, Zeviani M. Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration. Biomedicines. 2021 Jul 17;9(7). doi: 10.3390/biomedicines9070833. PMID: 34356897; PMCID: PMC8301332.
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Flow Cytometric Analysis of Multiple Mitochondrial Parameters in Human Induced Pluripotent Stem Cells and Their Neural and Glial Derivatives.

Journal of visualized experiments : JoVE

Liang KX, Chen A, Kristiansen CK, Bindoff LA.
PMID: 34806709
J Vis Exp. 2021 Nov 08;(177). doi: 10.3791/63116.

Mitochondria are important in the pathophysiology of many neurodegenerative diseases. Changes in mitochondrial volume, mitochondrial membrane potential (MMP), mitochondrial production of reactive oxygen species (ROS), and mitochondrial DNA (mtDNA) copy number are often features of these processes. This report...

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Liang KX, Chen A, Kristiansen CK, et al. Flow Cytometric Analysis of Multiple Mitochondrial Parameters in Human Induced Pluripotent Stem Cells and Their Neural and Glial Derivatives. J Vis Exp. 2021;(177)doi: 10.3791/63116.
Liang, K. X., Chen, A., Kristiansen, C. K., & Bindoff, L. A. (2021). Flow Cytometric Analysis of Multiple Mitochondrial Parameters in Human Induced Pluripotent Stem Cells and Their Neural and Glial Derivatives. Journal of visualized experiments : JoVE, (177), . https://doi.org/10.3791/63116
Liang, Kristina Xiao, et al. "Flow Cytometric Analysis of Multiple Mitochondrial Parameters in Human Induced Pluripotent Stem Cells and Their Neural and Glial Derivatives." Journal of visualized experiments : JoVE vol. ,177 (2021). doi: https://doi.org/10.3791/63116
Liang KX, Chen A, Kristiansen CK, Bindoff LA. Flow Cytometric Analysis of Multiple Mitochondrial Parameters in Human Induced Pluripotent Stem Cells and Their Neural and Glial Derivatives. J Vis Exp. 2021 Nov 08;(177). doi: 10.3791/63116. PMID: 34806709.
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