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Page 1
Mild Lafora disease: clinical, neurophysiologic, and genetic findings.
Ferlazzo E, Canafoglia L, Michelucci R, Gambardella A, Gennaro E, Pasini E, Riguzzi P, Plasmati R, Volpi L, Labate A, Gasparini S, Villani F, Casazza M, Viri M, Zara F, Minassian BA, Turnbull J, Serratosa JM, Guerrero-López R, Franceschetti S, Aguglia U. Ferlazzo E, et al. Among authors: minassian ba. Epilepsia. 2014 Dec;55(12):e129-33. doi: 10.1111/epi.12806. Epub 2014 Sep 30. Epilepsia. 2014. PMID: 25270369 Free article.
Clinical and genetic findings in 26 Italian patients with Lafora disease.
Franceschetti S, Gambardella A, Canafoglia L, Striano P, Lohi H, Gennaro E, Ianzano L, Veggiotti P, Sofia V, Biondi R, Striano S, Gellera C, Annesi G, Madia F, Civitelli D, Rocca FE, Quattrone A, Avanzini G, Minassian B, Zara F. Franceschetti S, et al. Epilepsia. 2006 Mar;47(3):640-3. doi: 10.1111/j.1528-1167.2006.00479.x. Epilepsia. 2006. PMID: 16529633 Free article.
Lafora disease, seizures and sugars.
Andrade DM, Turnbull J, Minassian BA. Andrade DM, et al. Among authors: minassian ba. Acta Myol. 2007 Jul;26(1):83-6. Acta Myol. 2007. PMID: 17915579 Free PMC article. Review.
Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.
Tagliabracci VS, Turnbull J, Wang W, Girard JM, Zhao X, Skurat AV, Delgado-Escueta AV, Minassian BA, Depaoli-Roach AA, Roach PJ. Tagliabracci VS, et al. Among authors: minassian ba. Proc Natl Acad Sci U S A. 2007 Dec 4;104(49):19262-6. doi: 10.1073/pnas.0707952104. Epub 2007 Nov 26. Proc Natl Acad Sci U S A. 2007. PMID: 18040046 Free PMC article.
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. Among authors: minassian ba. Nat Clin Pract Neurol. 2008 Feb;4(2):106-11. doi: 10.1038/ncpneuro0706. Nat Clin Pract Neurol. 2008. PMID: 18256682
230 results