Minassian BA - Search Results

1

Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.

Nitschke S, Sullivan MA, Mitra S, Marchioni CR, Lee JPY, Smith BH, Ahonen S, Wu J, Chown EE, Wang P, Petković S, Zhao X, DiGiovanni LF, Perri AM, Israelian L, Grossman TR, Kordasiewicz H, Vilaplana F, Iwai K, Nitschke F, Minassian BA. Nitschke S, et al. Among authors: minassian ba. Brain. 2022 Jul 29;145(7):2361-2377. doi: 10.1093/brain/awac017. Brain. 2022. PMID: 35084461 Free PMC article.

2

Identification of new and common mutations in the EPM2A gene in Lafora disease.

Minassian BA, Ianzano L, Delgado-Escueta AV, Scherer SW. Minassian BA, et al. Neurology. 2000 Jan 25;54(2):488-90. doi: 10.1212/wnl.54.2.488. Neurology. 2000. PMID: 10668720

3

Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.

Minassian BA, Ianzano L, Meloche M, Andermann E, Rouleau GA, Delgado-Escueta AV, Scherer SW. Minassian BA, et al. Neurology. 2000 Aug 8;55(3):341-6. doi: 10.1212/wnl.55.3.341. Neurology. 2000. PMID: 10932264

4

Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase.

Minassian BA, Andrade DM, Ianzano L, Young EJ, Chan E, Ackerley CA, Scherer SW. Minassian BA, et al. Ann Neurol. 2001 Feb;49(2):271-5. Ann Neurol. 2001. PMID: 11220751

5

Lafora's disease: towards a clinical, pathologic, and molecular synthesis.

Minassian BA. Minassian BA. Pediatr Neurol. 2001 Jul;25(1):21-9. doi: 10.1016/s0887-8994(00)00276-9. Pediatr Neurol. 2001. PMID: 11483392 Review.

6

Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease.

Minassian BA. Minassian BA. Adv Neurol. 2002;89:199-210. Adv Neurol. 2002. PMID: 11968446 Review. No abstract available.

7

Unusual presentation of Lafora's disease.

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

8

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: minassian ba. Nat Genet. 2003 Oct;35(2):125-7. doi: 10.1038/ng1238. Epub 2003 Sep 7. Nat Genet. 2003. PMID: 12958597

9

Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.

Andrade DM, Ackerley CA, Minett TS, Teive HA, Bohlega S, Scherer SW, Minassian BA. Andrade DM, et al. Among authors: minassian ba. Neurology. 2003 Dec 9;61(11):1611-4. doi: 10.1212/01.wnl.0000096017.19978.cb. Neurology. 2003. PMID: 14663053

10

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. Among authors: minassian ba. 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

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