Beggs AH - Search Results

1

Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.

Agrawal PB, Joshi M, Marinakis NS, Schmitz-Abe K, Ciarlini PD, Sargent JC, Markianos K, De Girolami U, Chad DA, Beggs AH. Agrawal PB, et al. Among authors: beggs ah. JAMA Neurol. 2014 Nov;71(11):1413-20. doi: 10.1001/jamaneurol.2014.1432. JAMA Neurol. 2014. PMID: 25264603 Free PMC article.

2

Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy.

Specht LA, Beggs AH, Korf B, Kunkel LM, Shapiro F. Specht LA, et al. Among authors: beggs ah. Pediatr Neurol. 1992 Nov-Dec;8(6):432-6. doi: 10.1016/0887-8994(92)90004-i. Pediatr Neurol. 1992. PMID: 1476571

3

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: beggs ah. Neurology. 1996 Feb;46(2):461-5. doi: 10.1212/wnl.46.2.461. Neurology. 1996. PMID: 8614513

4

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: beggs ah. Neurology. 2002 Aug 27;59(4):613-7. doi: 10.1212/wnl.59.4.613. Neurology. 2002. PMID: 12196661

5

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: beggs ah. Neurology. 2003 Feb 25;60(4):665-73. doi: 10.1212/01.wnl.0000046585.81304.bc. Neurology. 2003. PMID: 12601110

6

Multiple serotonergic brainstem abnormalities in sudden infant death syndrome.

Paterson DS, Trachtenberg FL, Thompson EG, Belliveau RA, Beggs AH, Darnall R, Chadwick AE, Krous HF, Kinney HC. Paterson DS, et al. Among authors: beggs ah. JAMA. 2006 Nov 1;296(17):2124-32. doi: 10.1001/jama.296.17.2124. JAMA. 2006. PMID: 17077377

7

Broadbelt KG, Barger MA, Paterson DS, Holm IA, Haas EA, Krous HF, Kinney HC, Markianos K, Beggs AH. Broadbelt KG, et al. Among authors: beggs ah. Pediatr Res. 2009 Dec;66(6):631-5. doi: 10.1203/PDR.0b013e3181bd5a31. Pediatr Res. 2009. PMID: 19707175 Free PMC article.

8

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.

Beggs AH, Böhm J, Snead E, Kozlowski M, Maurer M, Minor K, Childers MK, Taylor SM, Hitte C, Mickelson JR, Guo LT, Mizisin AP, Buj-Bello A, Tiret L, Laporte J, Shelton GD. Beggs AH, et al. Proc Natl Acad Sci U S A. 2010 Aug 17;107(33):14697-702. doi: 10.1073/pnas.1003677107. Epub 2010 Aug 3. Proc Natl Acad Sci U S A. 2010. PMID: 20682747 Free PMC article.

9

Congenital myopathy caused by a novel missense mutation in the CFL2 gene.

Ockeloen CW, Gilhuis HJ, Pfundt R, Kamsteeg EJ, Agrawal PB, Beggs AH, Dara Hama-Amin A, Diekstra A, Knoers NV, Lammens M, van Alfen N. Ockeloen CW, et al. Among authors: beggs ah. Neuromuscul Disord. 2012 Jul;22(7):632-9. doi: 10.1016/j.nmd.2012.03.008. Epub 2012 May 4. Neuromuscul Disord. 2012. PMID: 22560515 Free PMC article.

10

Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.

Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X, Joshi S, Xu J, Peng W, Beggs AH, Li JZ, Burmeister M, Dowling JJ. Majczenko K, et al. Among authors: beggs ah. Am J Hum Genet. 2012 Aug 10;91(2):365-71. doi: 10.1016/j.ajhg.2012.06.012. Epub 2012 Jul 19. Am J Hum Genet. 2012. PMID: 22818856 Free PMC article.

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