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Page 1
Fetal gene therapy for neurodegenerative disease of infants.
Massaro G, Mattar CNZ, Wong AMS, Sirka E, Buckley SMK, Herbert BR, Karlsson S, Perocheau DP, Burke D, Heales S, Richard-Londt A, Brandner S, Huebecker M, Priestman DA, Platt FM, Mills K, Biswas A, Cooper JD, Chan JKY, Cheng SH, Waddington SN, Rahim AA. Massaro G, et al. Among authors: heales s. Nat Med. 2018 Sep;24(9):1317-1323. doi: 10.1038/s41591-018-0106-7. Epub 2018 Jul 16. Nat Med. 2018. PMID: 30013199 Free PMC article.
Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer.
Baruteau J, Perocheau DP, Hanley J, Lorvellec M, Rocha-Ferreira E, Karda R, Ng J, Suff N, Diaz JA, Rahim AA, Hughes MP, Banushi B, Prunty H, Hristova M, Ridout DA, Virasami A, Heales S, Howe SJ, Buckley SMK, Mills PB, Gissen P, Waddington SN. Baruteau J, et al. Among authors: heales s. Nat Commun. 2018 Aug 29;9(1):3505. doi: 10.1038/s41467-018-05972-1. Nat Commun. 2018. PMID: 30158522 Free PMC article.
Cerebellar and Midbrain Lysosomal Enzyme Deficiency in Isolated Dystonia.
Schreglmann SR, Burke D, Batla A, Kresojevic N, Wood N, Heales S, Bhatia KP. Schreglmann SR, et al. Among authors: heales s. Mov Disord. 2022 Apr;37(4):875-877. doi: 10.1002/mds.28937. Epub 2022 Jan 25. Mov Disord. 2022. PMID: 35080042 No abstract available.
Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: case report and literature review.
Alonso-Canovas A, Katschnig P, Tucci A, Carecchio M, Wood NW, Edwards M, Martínez Castrillo JC, Burke D, Heales S, Bhatia KP. Alonso-Canovas A, et al. Among authors: heales s. Mov Disord. 2010 Jul 30;25(10):1506-9. doi: 10.1002/mds.23109. Mov Disord. 2010. PMID: 20629148 Review. No abstract available.
Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI.
Heywood WE, Camuzeaux S, Doykov I, Patel N, Preece RL, Footitt E, Cleary M, Clayton P, Grunewald S, Abulhoul L, Chakrapani A, Sebire NJ, Hindmarsh P, de Koning TJ, Heales S, Burke D, Gissen P, Mills K. Heywood WE, et al. Among authors: heales s. Anal Chem. 2015 Dec 15;87(24):12238-44. doi: 10.1021/acs.analchem.5b03232. Epub 2015 Nov 20. Anal Chem. 2015. PMID: 26537538
270 results