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270 results

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Page 1
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.
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.
Erratum to: Identification of novel CSF biomarkers for neurodegeneration and their validation by a high-throughput multiplexed targeted proteomic assay.
Heywood WE, Galimberti D, Bliss E, Sirka E, Paterson RW, Magdalinou NK, Carecchio M, Reid E, Heslegrave A, Fenoglio C, Scarpini E, Schott JM, Fox NC, Hardy J, Bhatia KP, Heales S, Sebire NJ, Zetterberg H, Mills K. Heywood WE, et al. Among authors: heales s. Mol Neurodegener. 2016 Feb 23;11:20. doi: 10.1186/s13024-016-0086-3. Mol Neurodegener. 2016. PMID: 26907468 Free PMC article. No abstract available.
Endothelial, sympathetic, and cardiac function in inherited (6R)-L-erythro-5,6,7,8-tetrahydro-L-biopterin deficiency.
Mayahi L, Mason L, Bleasdale-Barr K, Donald A, Trender-Gerhard I, Sweeney MG, Davis MB, Wood N, Mathias CJ, Watson L, Pellerin D, Heales S, Deanfield JE, Bhatia K, Murray-Rust J, Hingorani AD. Mayahi L, et al. Among authors: heales s. Circ Cardiovasc Genet. 2010 Dec;3(6):513-22. doi: 10.1161/CIRCGENETICS.110.957605. Epub 2010 Oct 11. Circ Cardiovasc Genet. 2010. PMID: 20937667
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Meyer E, Carss KJ, Rankin J, Nichols JM, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJ, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium; Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA. Meyer E, et al. Among authors: heales sj. Nat Genet. 2017 Feb;49(2):223-237. doi: 10.1038/ng.3740. Epub 2016 Dec 19. Nat Genet. 2017. PMID: 27992417 Free article.
Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.
Meyer E, Carss KJ, Rankin J, Nichols JME, Grozeva D, Joseph AP, Mencacci NE, Papandreou A, Ng J, Barral S, Ngoh A, Ben-Pazi H, Willemsen MA, Arkadir D, Barnicoat A, Bergman H, Bhate S, Boys A, Darin N, Foulds N, Gutowski N, Hills A, Houlden H, Hurst JA, Israel Z, Kaminska M, Limousin P, Lumsden D, McKee S, Misra S, Mohammed SS, Nakou V, Nicolai J, Nilsson M, Pall H, Peall KJ, Peters GB, Prabhakar P, Reuter MS, Rump P, Segel R, Sinnema M, Smith M, Turnpenny P, White SM, Wieczorek D, Wiethoff S, Wilson BT, Winter G, Wragg C, Pope S, Heales SJH, Morrogh D; UK10K Consortium; Deciphering Developmental Disorders Study; NIHR BioResource Rare Diseases Consortium; Pittman A, Carr LJ, Perez-Dueñas B, Lin JP, Reis A, Gahl WA, Toro C, Bhatia KP, Wood NW, Kamsteeg EJ, Chong WK, Gissen P, Topf M, Dale RC, Chubb JR, Raymond FL, Kurian MA. Meyer E, et al. Among authors: heales sjh. Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969b. Nat Genet. 2017. PMID: 28546572 No abstract available.
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.
270 results