Durling HJ - Search Results

1

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG. Meredith C, et al. Among authors: durling hj. Am J Hum Genet. 2004 Oct;75(4):703-8. doi: 10.1086/424760. Epub 2004 Aug 20. Am J Hum Genet. 2004. PMID: 15322983 Free PMC article.

2

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

Ilkovski B, Cooper ST, Nowak K, Ryan MM, Yang N, Schnell C, Durling HJ, Roddick LG, Wilkinson I, Kornberg AJ, Collins KJ, Wallace G, Gunning P, Hardeman EC, Laing NG, North KN. Ilkovski B, et al. Among authors: durling hj. Am J Hum Genet. 2001 Jun;68(6):1333-43. doi: 10.1086/320605. Epub 2001 Apr 27. Am J Hum Genet. 2001. PMID: 11333380 Free PMC article.

3

De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy.

Durling HJ, Reilich P, Müller-Höcker J, Mendel B, Pongratz D, Wallgren-Pettersson C, Gunning P, Lochmüller H, Laing NG. Durling HJ, et al. Neuromuscul Disord. 2002 Dec;12(10):947-51. doi: 10.1016/s0960-8966(02)00182-7. Neuromuscul Disord. 2002. PMID: 12467750

4

Nemaline rods and complex I deficiency in three infants with hypotonia, motor delay and failure to thrive.

Lamont PJ, Thorburn DR, Fabian V, Vajsar J, Hawkins C, Saada Reisch A, Durling H, Laing NG, Nevo Y. Lamont PJ, et al. Neuropediatrics. 2004 Oct;35(5):302-6. doi: 10.1055/s-2004-821243. Neuropediatrics. 2004. PMID: 15534765

5

Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn).

Schröder JM, Durling H, Laing N. Schröder JM, et al. Acta Neuropathol. 2004 Sep;108(3):250-6. doi: 10.1007/s00401-004-0888-1. Epub 2004 Jun 24. Acta Neuropathol. 2004. PMID: 15221331

6

Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

Sparrow JC, Nowak KJ, Durling HJ, Beggs AH, Wallgren-Pettersson C, Romero N, Nonaka I, Laing NG. Sparrow JC, et al. Among authors: durling hj. Neuromuscul Disord. 2003 Sep;13(7-8):519-31. doi: 10.1016/s0960-8966(03)00101-9. Neuromuscul Disord. 2003. PMID: 12921789 Review.

7

Actin-related myopathy without any missense mutation in the ACTA1 gene.

Goebel HH, Brockmann K, Bönnemann CG, Warlo IA, Hanefeld F, Labeit S, Durling HJ, Laing NG. Goebel HH, et al. Among authors: durling hj. J Child Neurol. 2004 Feb;19(2):149-53. doi: 10.1177/08830738040190021201. J Child Neurol. 2004. PMID: 15072110

8

Predominantly upper limb weakness, enlarged cisterna magna, and borderline intelligence in a child with de novo mutation of the skeletal muscle alpha-actin gene.

Goez H, Sira LB, Jossiphov J, Borochowitz Z, Durling H, Laing NG, Nevo Y. Goez H, et al. J Child Neurol. 2005 Mar;20(3):236-9. J Child Neurol. 2005. PMID: 15832616

9

Patient with actin aggregate myopathy and not formerly identified ACTA1 mutation is heterozygous for the Gly15Arg mutation of ACTA1, which has previously been associated with actinopathy.

Goebel HH, Brockman K, Bönnemann CG, Warlo IA, Hanefeld F, Labeit S, Durling HJ, Laing NG. Goebel HH, et al. Among authors: durling hj. J Child Neurol. 2006 Jun;21(6):545. doi: 10.1177/08830738060210060103. J Child Neurol. 2006. PMID: 16948949 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

9 results

Search Page