Scherer SW - Search Results

1

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.

Vaags AK, Bowdin S, Smith ML, Gilbert-Dussardier B, Brocke-Holmefjord KS, Sinopoli K, Gilles C, Haaland TB, Vincent-Delorme C, Lagrue E, Harbuz R, Walker S, Marshall CR, Houge G, Kalscheuer VM, Scherer SW, Minassian BA. Vaags AK, et al. Among authors: scherer sw. Ann Neurol. 2014 Nov;76(5):758-64. doi: 10.1002/ana.24274. Epub 2014 Oct 4. Ann Neurol. 2014. PMID: 25223753

2

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.

Minassian BA, Lee JR, Herbrick JA, Huizenga J, Soder S, Mungall AJ, Dunham I, Gardner R, Fong CY, Carpenter S, Jardim L, Satishchandra P, Andermann E, Snead OC 3rd, Lopes-Cendes I, Tsui LC, Delgado-Escueta AV, Rouleau GA, Scherer SW. Minassian BA, et al. Among authors: scherer sw. Nat Genet. 1998 Oct;20(2):171-4. doi: 10.1038/2470. Nat Genet. 1998. PMID: 9771710

3

Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy.

Minassian BA, Sainz J, Serratosa JM, Gee M, Sakamoto LM, Bohlega S, Geoffroy G, Barr C, Scherer SW, Tomiyasu U, Carpenter S, Wigg K, Sanghvi AV, Delgado-Escueta AV. Minassian BA, et al. Among authors: scherer sw. Ann Neurol. 1999 Feb;45(2):262-5. doi: 10.1002/1531-8249(199902)45:2<262::aid-ana20>3.0.co;2-9. Ann Neurol. 1999. PMID: 9989632

4

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. Among authors: scherer sw. Neurology. 2000 Jan 25;54(2):488-90. doi: 10.1212/wnl.54.2.488. Neurology. 2000. PMID: 10668720

5

X-linked vacuolar myopathies: two separate loci and refined genetic mapping.

Auranen M, Villanova M, Muntoni F, Fardeau M, Scherer SW, Kalino H, Minassian BA. Auranen M, et al. Among authors: scherer sw. Ann Neurol. 2000 May;47(5):666-9. Ann Neurol. 2000. PMID: 10805342

6

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. Among authors: scherer sw. Neurology. 2000 Aug 8;55(3):341-6. doi: 10.1212/wnl.55.3.341. Neurology. 2000. PMID: 10932264

7

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. Among authors: scherer sw. Ann Neurol. 2001 Feb;49(2):271-5. Ann Neurol. 2001. PMID: 11220751

8

Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product.

Ianzano L, Zhao XC, Minassian BA, Scherer SW. Ianzano L, et al. Among authors: scherer sw. Genomics. 2003 Jun;81(6):579-87. doi: 10.1016/s0888-7543(03)00094-6. Genomics. 2003. PMID: 12782127

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

10

Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22.

Chan EM, Bulman DE, Paterson AD, Turnbull J, Andermann E, Andermann F, Rouleau GA, Delgado-Escueta AV, Scherer SW, Minassian BA. Chan EM, et al. Among authors: scherer sw. J Med Genet. 2003 Sep;40(9):671-5. doi: 10.1136/jmg.40.9.671. J Med Genet. 2003. PMID: 12960212 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

656 results

Search Page