Snyder PJ - Search Results

1

Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.

Iyadurai S, Arnold WD, Kissel JT, Ruhno C, Mcgovern VL, Snyder PJ, Prior TW, Roggenbuck J, Burghes AH, Kolb SJ. Iyadurai S, et al. Among authors: snyder pj. Muscle Nerve. 2017 Aug;56(2):341-345. doi: 10.1002/mus.25491. Epub 2017 Feb 20. Muscle Nerve. 2017. PMID: 27875632 Free PMC article.

2

Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.

Ruhno C, McGovern VL, Avenarius MR, Snyder PJ, Prior TW, Nery FC, Muhtaseb A, Roggenbuck JS, Kissel JT, Sansone VA, Siranosian JJ, Johnstone AJ, Nwe PH, Zhang RZ, Swoboda KJ, Burghes AHM. Ruhno C, et al. Among authors: snyder pj. Hum Genet. 2019 Mar;138(3):241-256. doi: 10.1007/s00439-019-01983-0. Epub 2019 Feb 20. Hum Genet. 2019. PMID: 30788592 Free PMC article.

3

Case of the month: germline mosaicism in carriers of Duchenne muscular dystrophy.

Prior TW, Papp AC, Snyder PJ, Mendell JR. Prior TW, et al. Among authors: snyder pj. Muscle Nerve. 1992 Aug;15(8):960-3. doi: 10.1002/mus.880150815. Muscle Nerve. 1992. PMID: 1353862

4

Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach.

Kolb SJ, Snyder PJ, Poi EJ, Renard EA, Bartlett A, Gu S, Sutton S, Arnold WD, Freimer ML, Lawson VH, Kissel JT, Prior TW. Kolb SJ, et al. Among authors: snyder pj. Neurology. 2010 Feb 9;74(6):502-6. doi: 10.1212/WNL.0b013e3181cef84a. Neurology. 2010. PMID: 20142617

5

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

Mailman MD, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Wirth B, Burghes AH, Prior TW. Mailman MD, et al. Among authors: snyder pj. Genet Med. 2002 Jan-Feb;4(1):20-6. doi: 10.1097/00125817-200201000-00004. Genet Med. 2002. PMID: 11839954 Free article.

6

Dystrophin expression in a Duchenne muscular dystrophy patient with a frame shift deletion.

Prior TW, Bartolo C, Papp AC, Snyder PJ, Sedra MS, Burghes AH, Kissel JT, Luquette MH, Tsao CY, Mendell JR. Prior TW, et al. Among authors: snyder pj. Neurology. 1997 Feb;48(2):486-8. doi: 10.1212/wnl.48.2.486. Neurology. 1997. PMID: 9040743

7

Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation.

Manickam K, Donoghue DJ, Meyer AN, Snyder PJ, Prior TW. Manickam K, et al. Among authors: snyder pj. Am J Med Genet A. 2014 Jan;164A(1):243-50. doi: 10.1002/ajmg.a.36236. Epub 2013 Oct 29. Am J Med Genet A. 2014. PMID: 24352917

8

A HindIII/BglII dystrophin gene polymorphism in the African-American population.

Prior TW, Papp AC, Snyder PJ, Burghes AH, Wallace BH. Prior TW, et al. Among authors: snyder pj. Hum Genet. 1992 Aug;89(6):687-8. doi: 10.1007/BF00221965. Hum Genet. 1992. PMID: 1355070

9

Spectrum of small mutations in the dystrophin coding region.

Prior TW, Bartolo C, Pearl DK, Papp AC, Snyder PJ, Sedra MS, Burghes AH, Mendell JR. Prior TW, et al. Among authors: snyder pj. Am J Hum Genet. 1995 Jul;57(1):22-33. Am J Hum Genet. 1995. PMID: 7611292 Free PMC article.

10

A molecular protocol for diagnosing myotonic dystrophy.

Guida M, Marger RS, Papp AC, Snyder PJ, Sedra MS, Kissel JT, Mendell JR, Prior TW. Guida M, et al. Among authors: snyder pj. Clin Chem. 1995 Jan;41(1):69-72. Clin Chem. 1995. PMID: 7813083

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