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MOLECULAR GENETICS AND METABOLISM, 1096-7192

Journal

  1. Testing combinatorial therapies for juvenile Batten disease: Lysosome (2018)

    Cooper, J., Tarczyluk, M., Najafi, A., Salzlechner, C., Lim, M., Pearce, D., Smith, D., Platt, F. & Williams, B., Feb 2018, In : MOLECULAR GENETICS AND METABOLISM. 123, 2, p. S33

    Research output: Contribution to journalMeeting abstract

  2. Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders

    Bigger, B. W., Begley, D. J., Virgintino, D. & Pshezhetsky, A. V., 1 Jan 2018, (Accepted/In press) In : MOLECULAR GENETICS AND METABOLISM.

    Research output: Contribution to journalArticle

  3. Partial rescue of neuropathology in the murine model of PKU following administration of recombinant phenylalanine ammonia lyase (pegvaliase)

    Goldfinger, M., Zeile, W. L., Corado, C. R., O'Neill, C. A., Tsuruda, L. S., Laipis, P. J. & Cooper, J. D., 29 Apr 2017, In : MOLECULAR GENETICS AND METABOLISM.

    Research output: Contribution to journalArticle

  4. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

    Fietz, M., AlSayed, M., Burke, D., Cohen-Pfeffer, J., Cooper, J. D., Dvořáková, L., Giugliani, R., Izzo, E., Jahnová, H., Lukacs, Z., Mole, S. E., de Halac, I. N., Pearce, D. A., Poupetova, H., Schulz, A., Specchio, N., Xin, W. & Miller, N., 25 Jul 2016, In : MOLECULAR GENETICS AND METABOLISM.

    Research output: Contribution to journalArticle

  5. Intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis

    Lu, J. Y., Nelvagal, H. R., Wang, L., Birnbaum, S. G., Cooper, J. & Hofmann, S. L., 1 Sep 2015, In : MOLECULAR GENETICS AND METABOLISM. 116, 1-2, p. 98-105 8 p.

    Research output: Contribution to journalArticle

  6. Nonclinical evaluation of CNS-administered TPP1 enzyme replacement in canine CLN2 neuronal ceroid lipofuscinosis

    Vuillemenot, B. R., Kennedy, D., Cooper, J. D., Wong, A. M. S., Sri, S., Doeleman, T., Katz, M. L., Coates, J. R., Johnson, G. C., Reed, R. P., Adams, E. L., Butt, M. T., Musson, D. G., Henshaw, J., Keve, S., Cahayag, R., Tsuruda, L. S. & O'Neill, C. A., 1 Feb 2015, In : MOLECULAR GENETICS AND METABOLISM. 114, 2, p. 281-293 13 p.

    Research output: Contribution to journalArticle

  7. Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl-protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis

    Hu, J., Lu, J-Y., Wong, A. M. S., Hynan, L. S., Birnbaum, S. G., Yilmaz, D. S., Streit, B. M., Lenartowicz, E., Thompson, T. C. M., Cooper, J. D. & Hofmann, S. L., Sep 2012, In : MOLECULAR GENETICS AND METABOLISM. 107, 1-2, p. 213-221 9 p., N/A.

    Research output: Contribution to journalArticle

  8. Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease

    Meyer, E., Kurian, M. A., Morgan, N. V., McNeill, A., Pasha, S., Tee, L., Younis, R., Norman, A., van der Knaap, M. S., Wassmer, E., Trembath, R. C., Brueton, L. & Maher, E. R., Dec 2011, In : MOLECULAR GENETICS AND METABOLISM. 104, 4, p. 637 - 643 7 p.

    Research output: Contribution to journalArticle

  9. Behavioural aspects of Gaucher's disease - An explorative study

    McPartlan, L., Ahmed, R., Vellodi, A. & Santosh, P., Feb 2011, In : MOLECULAR GENETICS AND METABOLISM. 102, 2, p. S28-S29 2 p.

    Research output: Contribution to journalMeeting abstract

  10. Therapeutic approaches for the treatment of Infantile Neuronal Ceroid Lipofuscinosis (INCL)

    Macauley, S., Roberts, M., Hohms, S., Reddy, A., Cooper, J. & Sands, M., 2011, In : MOLECULAR GENETICS AND METABOLISM. 102, 2, p. S27 - S27

    Research output: Contribution to journalMeeting abstract

  11. A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption

    Meyer, E., Kurian, M. A., Pasha, S., Trembath, R. C., Cole, T. & Maher, E. R., Mar 2010, In : MOLECULAR GENETICS AND METABOLISM. 99, 3, p. 325 - 328 4 p.

    Research output: Contribution to journalArticle

  12. Viral vector and neural stem cell therapies for Batten disease

    Wong, A., Rahim, A., Ahmadi, S., Uwanogho, D., Waddington, S., Price, J. & Cooper, J., 2010, In : MOLECULAR GENETICS AND METABOLISM. 99, 2, p. S40 - S40

    Research output: Contribution to journalMeeting abstract

  13. Immunosuppression as a novel therapeutic target in Batten disease?

    Cooper, J., Castaneda, J., Wong, A., Horak, M., Seehafer, S., Benedict, J., Weimer, J., Curran, T., Lim, M. & Pearce, D., 2008, In : MOLECULAR GENETICS AND METABOLISM. 93, 2, p. S18 - S18

    Research output: Contribution to journalMeeting abstract

  14. Reactive and synaptic changes precede neuronal loss in mouse models of NCL

    Kielar, C., Gillingwater, T., Tyynela, J., Sands, M. & Cooper, J., 2008, In : MOLECULAR GENETICS AND METABOLISM. 93, 2, p. 51 1 p.

    Research output: Contribution to journalMeeting abstract

  15. Clinical significance of oxidation from phytol to phytanic acid in man

    Wierzbicki, A. S., Dec 2004, In : MOLECULAR GENETICS AND METABOLISM. 83, 4, p. 347 - 347 1 p.

    Research output: Contribution to journalLetter

  16. Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations

    Huizing, M., Rakocevic, G., Sparks, S. E., Mamali, I., Shatunov, A., Goldfarb, L., Krasnewich, D., Gahl, W. A. & Dalakas, M. C., Mar 2004, In : MOLECULAR GENETICS AND METABOLISM. 81, 3, p. 196-202 7 p.

    Research output: Contribution to journalArticle

  17. Amino acid homologies between human biotinidase and bacterial aliphatic amidases: Putative identification of the active site of biotinidase

    Swango, K. L., Hymes, J., Brown, P. & Wolf, B., Feb 2000, In : MOLECULAR GENETICS AND METABOLISM. 69, 2, p. 111 - 115 5 p.

    Research output: Contribution to journalArticle

  18. Celiac disease: Strongly heritable, oligogenic, but genetically complex

    King, A. L. & Ciclitira, P. J., 2000, In : MOLECULAR GENETICS AND METABOLISM. 71, 1-2, p. 70 - 75 6 p.

    Research output: Contribution to journalLiterature review

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