Ackerley C - Search Results

1

Substrate reduction therapy in juvenile GM2 gangliosidosis.

Maegawa GH, Banwell BL, Blaser S, Sorge G, Toplak M, Ackerley C, Hawkins C, Hayes J, Clarke JT. Maegawa GH, et al. Among authors: ackerley c. Mol Genet Metab. 2009 Sep-Oct;98(1-2):215-24. doi: 10.1016/j.ymgme.2009.06.005. Epub 2009 Jun 12. Mol Genet Metab. 2009. PMID: 19595619 Clinical Trial.

2

Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.

Siriwardena K, Mackay N, Levandovskiy V, Blaser S, Raiman J, Kantor PF, Ackerley C, Robinson BH, Schulze A, Cameron JM. Siriwardena K, et al. Among authors: ackerley c. Mol Genet Metab. 2013 Jan;108(1):40-50. doi: 10.1016/j.ymgme.2012.11.282. Epub 2012 Dec 3. Mol Genet Metab. 2013. PMID: 23266196

3

A novel mitochondrial DNA mutation in COX1 leads to strokes, seizures, and lactic acidosis.

Tam EW, Feigenbaum A, Addis JB, Blaser S, Mackay N, Al-Dosary M, Taylor RW, Ackerley C, Cameron JM, Robinson BH. Tam EW, et al. Among authors: ackerley c. Neuropediatrics. 2008 Dec;39(6):328-34. doi: 10.1055/s-0029-1202287. Epub 2009 Jun 30. Neuropediatrics. 2008. PMID: 19568996

4

Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts.

Cameron JM, Levandovskiy V, MacKay N, Utgikar R, Ackerley C, Chiasson D, Halliday W, Raiman J, Robinson BH. Cameron JM, et al. Among authors: ackerley c. Mol Genet Metab. 2009 Dec;98(4):378-82. doi: 10.1016/j.ymgme.2009.07.012. Epub 2009 Jul 26. Mol Genet Metab. 2009. PMID: 19699667

5

Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy.

Chan EM, Ackerley CA, Lohi H, Ianzano L, Cortez MA, Shannon P, Scherer SW, Minassian BA. Chan EM, et al. Hum Mol Genet. 2004 Jun 1;13(11):1117-29. doi: 10.1093/hmg/ddh130. Epub 2004 Apr 21. Hum Mol Genet. 2004. PMID: 15102711

6

Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy.

Lohi H, Ianzano L, Zhao XC, Chan EM, Turnbull J, Scherer SW, Ackerley CA, Minassian BA. Lohi H, et al. Hum Mol Genet. 2005 Sep 15;14(18):2727-36. doi: 10.1093/hmg/ddi306. Epub 2005 Aug 22. Hum Mol Genet. 2005. PMID: 16115820

7

Typical progression of myoclonic epilepsy of the Lafora type: a case report.

Striano P, Zara F, Turnbull J, Girard JM, Ackerley CA, Cervasio M, De Rosa G, Del Basso-De Caro ML, Striano S, Minassian BA. Striano P, et al. Nat Clin Pract Neurol. 2008 Feb;4(2):106-11. doi: 10.1038/ncpneuro0706. Nat Clin Pract Neurol. 2008. PMID: 18256682

8

Aberrant lung lipids cause respiratory impairment in a Mecp2-deficient mouse model of Rett syndrome.

Vashi N, Ackerley C, Post M, Justice MJ. Vashi N, et al. Among authors: ackerley c. Hum Mol Genet. 2021 Nov 1;30(22):2161-2176. doi: 10.1093/hmg/ddab182. Hum Mol Genet. 2021. PMID: 34230964 Free PMC article.

9

Mutations in NHLRC1 cause progressive myoclonus epilepsy.

Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, Scherer SW. Chan EM, et al. Among authors: ackerley ca. Nat Genet. 2003 Oct;35(2):125-7. doi: 10.1038/ng1238. Epub 2003 Sep 7. Nat Genet. 2003. PMID: 12958597

10

Unusual presentation of Lafora's disease.

Al Otaibi SF, Minassian BA, Ackerley CA, Logan WJ, Weiss S. Al Otaibi SF, et al. J Child Neurol. 2003 Jul;18(7):499-501. doi: 10.1177/08830738030180070901. J Child Neurol. 2003. PMID: 12940657

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