Beggs AH - Search Results

1

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

Yuen M, Cooper ST, Marston SB, Nowak KJ, McNamara E, Mokbel N, Ilkovski B, Ravenscroft G, Rendu J, de Winter JM, Klinge L, Beggs AH, North KN, Ottenheijm CA, Clarke NF. Yuen M, et al. Among authors: beggs ah. Hum Mol Genet. 2015 Nov 15;24(22):6278-92. doi: 10.1093/hmg/ddv334. Epub 2015 Aug 24. Hum Mol Genet. 2015. PMID: 26307083 Free PMC article.

2

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

3

Congenital muscular dystrophy associated with merosin deficiency.

North KN, Specht LA, Sethi RK, Shapiro F, Beggs AH. North KN, et al. Among authors: beggs ah. J Child Neurol. 1996 Jul;11(4):291-5. doi: 10.1177/088307389601100406. J Child Neurol. 1996. PMID: 8807418

4

Deficiency of a skeletal muscle isoform of alpha-actinin (alpha-actinin-3) in merosin-positive congenital muscular dystrophy.

North KN, Beggs AH. North KN, et al. Among authors: beggs ah. Neuromuscul Disord. 1996 Aug;6(4):229-35. doi: 10.1016/0960-8966(96)00361-6. Neuromuscul Disord. 1996. PMID: 8887951

5

A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.

North KN, Yang N, Wattanasirichaigoon D, Mills M, Easteal S, Beggs AH. North KN, et al. Among authors: beggs ah. Nat Genet. 1999 Apr;21(4):353-4. doi: 10.1038/7675. Nat Genet. 1999. PMID: 10192379 No abstract available.

6

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: beggs ah. Nat Genet. 1999 Oct;23(2):208-12. doi: 10.1038/13837. Nat Genet. 1999. PMID: 10508519

7

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.

Kaplan JM, Kim SH, North KN, Rennke H, Correia LA, Tong HQ, Mathis BJ, Rodríguez-Pérez JC, Allen PG, Beggs AH, Pollak MR. Kaplan JM, et al. Among authors: beggs ah. Nat Genet. 2000 Mar;24(3):251-6. doi: 10.1038/73456. Nat Genet. 2000. PMID: 10700177

8

Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy.

Mills M, Yang N, Weinberger R, Vander Woude DL, Beggs AH, Easteal S, North K. Mills M, et al. Among authors: beggs ah. Hum Mol Genet. 2001 Jun 15;10(13):1335-46. doi: 10.1093/hmg/10.13.1335. Hum Mol Genet. 2001. PMID: 11440986

9

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: beggs ah. Ann Neurol. 2001 Sep;50(3):312-20. doi: 10.1002/ana.1080. Ann Neurol. 2001. PMID: 11558787 Review.

10

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

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