Scherer SW - Search Results

1

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: scherer sw. 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

2

Refined localization and yeast artificial chromosome (YAC) contig--mapping of genes and DNA segments in the 7q21-q32 region.

Scherer SW, Rommens JM, Soder S, Wong E, Plavsic N, Tompkins BJ, Beattie A, Kim J, Tsui LC. Scherer SW, et al. Hum Mol Genet. 1993 Jun;2(6):751-60. doi: 10.1093/hmg/2.6.751. Hum Mol Genet. 1993. PMID: 8353494

3

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

4

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

5

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

6

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

7

Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual.

Vincent JB, Herbrick JA, Gurling HM, Bolton PF, Roberts W, Scherer SW. Vincent JB, et al. Among authors: scherer sw. Am J Hum Genet. 2000 Aug;67(2):510-4. doi: 10.1086/303005. Epub 2000 Jul 7. Am J Hum Genet. 2000. PMID: 10889047 Free PMC article.

8

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

9

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

10

Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32.

Nakabayashi K, Bentley L, Hitchins MP, Mitsuya K, Meguro M, Minagawa S, Bamforth JS, Stanier P, Preece M, Weksberg R, Oshimura M, Moore GE, Scherer SW. Nakabayashi K, et al. Among authors: scherer sw. Hum Mol Genet. 2002 Jul 15;11(15):1743-56. doi: 10.1093/hmg/11.15.1743. Hum Mol Genet. 2002. PMID: 12095916

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