Speer MC - Search Results

1

myotilin Mutation found in second pedigree with LGMD1A.

Hauser MA, Conde CB, Kowaljow V, Zeppa G, Taratuto AL, Torian UM, Vance J, Pericak-Vance MA, Speer MC, Rosa AL. Hauser MA, et al. Among authors: speer mc. Am J Hum Genet. 2002 Dec;71(6):1428-32. doi: 10.1086/344532. Epub 2002 Nov 11. Am J Hum Genet. 2002. PMID: 12428213 Free PMC article.

2

Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7.

Speer MC, Vance JM, Grubber JM, Lennon Graham F, Stajich JM, Viles KD, Rogala A, McMichael R, Chutkow J, Goldsmith C, Tim RW, Pericak-Vance MA. Speer MC, et al. Am J Hum Genet. 1999 Feb;64(2):556-62. doi: 10.1086/302252. Am J Hum Genet. 1999. PMID: 9973293 Free PMC article.

3

Myotilin is mutated in limb girdle muscular dystrophy 1A.

Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, Tim RW, Taivainen A, Bartoloni L, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC. Hauser MA, et al. Among authors: speer mc. Hum Mol Genet. 2000 Sep 1;9(14):2141-7. doi: 10.1093/hmg/9.14.2141. Hum Mol Genet. 2000. PMID: 10958653

4

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.

Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, Vance JM. Züchner S, et al. Among authors: speer mc. Nat Genet. 2005 Mar;37(3):289-94. doi: 10.1038/ng1514. Epub 2005 Jan 30. Nat Genet. 2005. PMID: 15731758

5

Genetic linkage mapping of chromosome 17 markers and neurofibromatosis type I.

Vance JM, Pericak-Vance MA, Yamaoka LH, Speer MC, Rosenwasser GO, Small K, Gaskell PC Jr, Hung WY, Alberts MJ, Haynes CS, et al. Vance JM, et al. Among authors: speer mc. Am J Hum Genet. 1989 Jan;44(1):25-9. Am J Hum Genet. 1989. PMID: 2491777 Free PMC article.

6

Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9.

Yamaoka LH, Westbrook CA, Speer MC, Gilchrist JM, Jabs EW, Schweins EG, Stajich JM, Gaskell PC, Roses AD, Pericak-Vance MA. Yamaoka LH, et al. Among authors: speer mc. Neuromuscul Disord. 1994 Sep-Nov;4(5-6):471-5. doi: 10.1016/0960-8966(94)90086-8. Neuromuscul Disord. 1994. PMID: 7881291

7

Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD).

Gilbert JR, Stajich JM, Wall S, Carter SC, Qiu H, Vance JM, Stewart CS, Speer MC, Pufky J, Yamaoka LH, et al. Gilbert JR, et al. Among authors: speer mc. Am J Hum Genet. 1993 Aug;53(2):401-8. Am J Hum Genet. 1993. PMID: 8328457 Free PMC article.

8

Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37.

Speer MC, Tandan R, Rao PN, Fries T, Stajich JM, Bolhuis PA, Jöbsis GJ, Vance JM, Viles KD, Sheffield K, James C, Kahler SG, Pettenati M, Gilbert JR, Denton PH, Yamaoka LH, Pericak-Vance MA. Speer MC, et al. Hum Mol Genet. 1996 Jul;5(7):1043-6. doi: 10.1093/hmg/5.7.1043. Hum Mol Genet. 1996. PMID: 8817344

9

Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.

Messina DN, Speer MC, Pericak-Vance MA, McNally EM. Messina DN, et al. Among authors: speer mc. Am J Hum Genet. 1997 Oct;61(4):909-17. doi: 10.1086/514896. Am J Hum Genet. 1997. PMID: 9382102 Free PMC article.

10

Using neural networks as an aid in the determination of disease status: comparison of clinical diagnosis to neural-network predictions in a pedigree with autosomal dominant limb-girdle muscular dystrophy.

Falk CT, Gilchrist JM, Pericak-Vance MA, Speer MC. Falk CT, et al. Among authors: speer mc. Am J Hum Genet. 1998 Apr;62(4):941-9. doi: 10.1086/301780. Am J Hum Genet. 1998. PMID: 9529338 Free PMC article.

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