Iannaccone S - Search Results

1

Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.

Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA, Govindraj P, Hassell JR, Devaney JM, Spranger J, Stevenson RE, Iannaccone S, Dalakas MC, Yamada Y. Arikawa-Hirasawa E, et al. Among authors: iannaccone s. Am J Hum Genet. 2002 May;70(5):1368-75. doi: 10.1086/340390. Epub 2002 Apr 8. Am J Hum Genet. 2002. PMID: 11941538 Free PMC article.

2

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

Parsons DW, McAndrew PE, Iannaccone ST, Mendell JR, Burghes AH, Prior TW. Parsons DW, et al. Among authors: iannaccone st. Am J Hum Genet. 1998 Dec;63(6):1712-23. doi: 10.1086/302160. Am J Hum Genet. 1998. PMID: 9837824 Free PMC article.

3

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG. Nowak KJ, et al. Among authors: iannaccone st. Nat Genet. 1999 Oct;23(2):208-12. doi: 10.1038/13837. Nat Genet. 1999. PMID: 10508519

4

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Lehtokari VL, Pelin K, Sandbacka M, Ranta S, Donner K, Muntoni F, Sewry C, Angelini C, Bushby K, Van den Bergh P, Iannaccone S, Laing NG, Wallgren-Pettersson C. Lehtokari VL, et al. Among authors: iannaccone s. Hum Mutat. 2006 Sep;27(9):946-56. doi: 10.1002/humu.20370. Hum Mutat. 2006. PMID: 16917880

5

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.

Potocki L, Chen KS, Koeuth T, Killian J, Iannaccone ST, Shapira SK, Kashork CD, Spikes AS, Shaffer LG, Lupski JR. Potocki L, et al. Among authors: iannaccone st. Am J Hum Genet. 1999 Feb;64(2):471-8. doi: 10.1086/302240. Am J Hum Genet. 1999. PMID: 9973284 Free PMC article.

6

Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy.

Wattanasirichaigoon D, Swoboda KJ, Takada F, Tong HQ, Lip V, Iannaccone ST, Wallgren-Pettersson C, Laing NG, Beggs AH. Wattanasirichaigoon D, et al. Among authors: iannaccone st. Neurology. 2002 Aug 27;59(4):613-7. doi: 10.1212/wnl.59.4.613. Neurology. 2002. PMID: 12196661

7

Nemaline myopathy: a clinical study of 143 cases.

Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST, Laing NG, Beggs AH, North KN. Ryan MM, et al. Among authors: iannaccone st. Ann Neurol. 2001 Sep;50(3):312-20. doi: 10.1002/ana.1080. Ann Neurol. 2001. PMID: 11558787 Review.

8

An analysis of disease severity based on SMN2 copy number in adults with spinal muscular atrophy.

Elsheikh B, Prior T, Zhang X, Miller R, Kolb SJ, Moore D, Bradley W, Barohn R, Bryan W, Gelinas D, Iannaccone S, Leshner R, Mendell JR, Mendoza M, Russman B, Smith S, King W, Kissel JT. Elsheikh B, et al. Among authors: iannaccone s. Muscle Nerve. 2009 Oct;40(4):652-6. doi: 10.1002/mus.21350. Muscle Nerve. 2009. PMID: 19760790

9

Clinical course correlates poorly with muscle pathology in nemaline myopathy.

Ryan MM, Ilkovski B, Strickland CD, Schnell C, Sanoudou D, Midgett C, Houston R, Muirhead D, Dennett X, Shield LK, De Girolami U, Iannaccone ST, Laing NG, North KN, Beggs AH. Ryan MM, et al. Among authors: iannaccone st. Neurology. 2003 Feb 25;60(4):665-73. doi: 10.1212/01.wnl.0000046585.81304.bc. Neurology. 2003. PMID: 12601110

10

Cognitive dysfunction as the major presenting feature of Becker's muscular dystrophy.

North KN, Miller G, Iannaccone ST, Clemens PR, Chad DA, Bella I, Smith TW, Beggs AH, Specht LA. North KN, et al. Among authors: iannaccone st. Neurology. 1996 Feb;46(2):461-5. doi: 10.1212/wnl.46.2.461. Neurology. 1996. PMID: 8614513

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