Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 69

1.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG.

Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241.

2.

Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).

Joureau B, de Winter JM, Conijn S, Bogaards SJP, Kovacevic I, Kalganov A, Persson M, Lindqvist J, Stienen GJM, Irving TC, Ma W, Yuen M, Clarke NF, Rassier DE, Malfatti E, Romero NB, Beggs AH, Ottenheijm CAC.

Ann Neurol. 2018 Feb;83(2):269-282. doi: 10.1002/ana.25144. Epub 2018 Feb 6.

3.

Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.

Schofield D, Alam K, Douglas L, Shrestha R, MacArthur DG, Davis M, Laing NG, Clarke NF, Burns J, Cooper ST, North KN, Sandaradura SA, O'Grady GL.

NPJ Genom Med. 2017;2. pii: 4. doi: 10.1038/s41525-017-0006-7. Epub 2017 Mar 3.

4.

A 'limb-girdle muscular dystrophy' responsive to asthma therapy.

Mulroy E, Ghaoui R, Hutchinson D, Rodrigues M, Lek M, MacArthur DG, Cooper ST, Clarke NF, Roxburgh R.

Pract Neurol. 2017 Aug;17(4):327-331. doi: 10.1136/practneurol-2017-001598. Epub 2017 Apr 22. No abstract available.

PMID:
28433973
5.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG.

Sci Transl Med. 2017 Apr 19;9(386). pii: eaal5209. doi: 10.1126/scitranslmed.aal5209.

6.

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

Punetha J, Kesari A, Uapinyoying P, Giri M, Clarke NF, Waddell LB, North KN, Ghaoui R, O'Grady GL, Oates EC, Sandaradura SA, Bönnemann CG, Donkervoort S, Plotz PH, Smith EC, Tesi-Rocha C, Bertorini TE, Tarnopolsky MA, Reitter B, Hausmanowa-Petrusewicz I, Hoffman EP.

J Neuromuscul Dis. 2016 May 27;3(2):209-225.

PMID:
27854218
7.

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.

O'Grady GL, Best HA, Sztal TE, Schartner V, Sanjuan-Vazquez M, Donkervoort S, Abath Neto O, Sutton RB, Ilkovski B, Romero NB, Stojkovic T, Dastgir J, Waddell LB, Boland A, Hu Y, Williams C, Ruparelia AA, Maisonobe T, Peduto AJ, Reddel SW, Lek M, Tukiainen T, Cummings BB, Joshi H, Nectoux J, Brammah S, Deleuze JF, Ing VO, Ramm G, Ardicli D, Nowak KJ, Talim B, Topaloglu H, Laing NG, North KN, MacArthur DG, Friant S, Clarke NF, Bryson-Richardson RJ, Bönnemann CG, Laporte J, Cooper ST.

Am J Hum Genet. 2016 Nov 3;99(5):1086-1105. doi: 10.1016/j.ajhg.2016.09.005. Epub 2016 Oct 13.

8.

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

O'Grady GL, Verschuuren C, Yuen M, Webster R, Menezes M, Fock JM, Pride N, Best HA, Benavides Damm T, Turner C, Lek M, Engel AG, North KN, Clarke NF, MacArthur DG, Kamsteeg EJ, Cooper ST.

Neurology. 2016 Oct 4;87(14):1442-1448. Epub 2016 Sep 2.

9.

TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.

Ghaoui R, Benavides T, Lek M, Waddell LB, Kaur S, North KN, MacArthur DG, Clarke NF, Cooper ST.

Neuromuscul Disord. 2016 Aug;26(8):500-3. doi: 10.1016/j.nmd.2016.05.013. Epub 2016 May 24.

PMID:
27342937
10.

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

O'Grady GL, Lek M, Lamande SR, Waddell L, Oates EC, Punetha J, Ghaoui R, Sandaradura SA, Best H, Kaur S, Davis M, Laing NG, Muntoni F, Hoffman E, MacArthur DG, Clarke NF, Cooper S, North K.

Ann Neurol. 2016 Jul;80(1):101-11. doi: 10.1002/ana.24687. Epub 2016 May 25.

PMID:
27159402
11.

Mutation-specific effects on thin filament length in thin filament myopathy.

Winter JM, Joureau B, Lee EJ, Kiss B, Yuen M, Gupta VA, Pappas CT, Gregorio CC, Stienen GJ, Edvardson S, Wallgren-Pettersson C, Lehtokari VL, Pelin K, Malfatti E, Romero NB, Engelen BG, Voermans NC, Donkervoort S, Bönnemann CG, Clarke NF, Beggs AH, Granzier H, Ottenheijm CA.

Ann Neurol. 2016 Jun;79(6):959-69. doi: 10.1002/ana.24654. Epub 2016 Apr 30.

12.

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.

O'Grady GL, Ma A, Sival D, Wong MT, Peduto T, Menezes MP, Young H, Waddell L, Ghaoui R, Needham M, Lek M, North KN, MacArthur DG, van Ravenswaaij-Arts CM, Clarke NF.

Eur J Hum Genet. 2016 Aug;24(8):1216-9. doi: 10.1038/ejhg.2015.276. Epub 2016 Jan 27.

13.

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.

Todd EJ, Yau KS, Ong R, Slee J, McGillivray G, Barnett CP, Haliloglu G, Talim B, Akcoren Z, Kariminejad A, Cairns A, Clarke NF, Freckmann ML, Romero NB, Williams D, Sewry CA, Colley A, Ryan MM, Kiraly-Borri C, Sivadorai P, Allcock RJ, Beeson D, Maxwell S, Davis MR, Laing NG, Ravenscroft G.

Orphanet J Rare Dis. 2015 Nov 17;10:148. doi: 10.1186/s13023-015-0364-0.

14.

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, Needham M, Liang C, Waddell LB, Nicholson G, O'Grady G, Kaur S, Ong R, Davis M, Sue CM, Laing NG, North KN, MacArthur DG, Clarke NF.

JAMA Neurol. 2015 Dec;72(12):1424-32. doi: 10.1001/jamaneurol.2015.2274.

PMID:
26436962
15.

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.

Donkervoort S, Papadaki M, de Winter JM, Neu MB, Kirschner J, Bolduc V, Yang ML, Gibbons MA, Hu Y, Dastgir J, Leach ME, Rutkowski A, Foley AR, Krüger M, Wartchow EP, McNamara E, Ong R, Nowak KJ, Laing NG, Clarke NF, Ottenheijm C, Marston SB, Bönnemann CG.

Ann Neurol. 2015 Dec;78(6):982-994. doi: 10.1002/ana.24535. Epub 2015 Nov 13.

16.

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.

Hum Mol Genet. 2015 Nov 15;24(22):6278-92. doi: 10.1093/hmg/ddv334. Epub 2015 Aug 24.

17.

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.

Ilkovski B, Pagnamenta AT, O'Grady GL, Kinoshita T, Howard MF, Lek M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ, Popitsch N, Keays DA, Anzilotti C, Goriely A, Waddell LB, Brilot F, North KN, Kanzawa N, Macarthur DG, Taylor JC, Kini U, Murakami Y, Clarke NF.

Hum Mol Genet. 2015 Nov 1;24(21):6146-59. doi: 10.1093/hmg/ddv331. Epub 2015 Aug 20.

18.

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzales MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN.

Brain. 2015 Nov;138(Pt 11):e392. doi: 10.1093/brain/awv160. Epub 2015 Jun 10. No abstract available.

19.

Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene.

de Winter JM, Joureau B, Sequeira V, Clarke NF, van der Velden J, Stienen GJ, Granzier H, Beggs AH, Ottenheijm CA.

Skelet Muscle. 2015 Apr 28;5:12. doi: 10.1186/s13395-015-0037-7. eCollection 2015.

20.

Expanding the phenotype of GMPPB mutations.

Cabrera-Serrano M, Ghaoui R, Ravenscroft G, Johnsen RD, Davis MR, Corbett A, Reddel S, Sue CM, Liang C, Waddell LB, Kaur S, Lek M, North KN, MacArthur DG, Lamont PJ, Clarke NF, Laing NG.

Brain. 2015 Apr;138(Pt 4):836-44. doi: 10.1093/brain/awv013. Epub 2015 Feb 12.

PMID:
25681410
21.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF.

J Clin Invest. 2015 Jan;125(1):456-7. doi: 10.1172/JCI80057. Epub 2015 Jan 2. No abstract available.

22.

Response.

Menezes MP, Waddell L, Lenk GM, Kaur S, MacArthur DG, Meisler MH, Clarke NF.

Neuromuscul Disord. 2015 Apr;25(4):360. doi: 10.1016/j.nmd.2014.12.008. Epub 2014 Dec 29. No abstract available.

PMID:
25617004
23.

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.

Guo Y, Menezes MJ, Menezes MP, Liang J, Li D, Riley LG, Clarke NF, Andrews PI, Tian L, Webster R, Wang F, Liu X, Shen Y, Thorburn DR, Keating BJ, Engel A, Hakonarson H, Christodoulou J, Xu X.

Neuromuscul Disord. 2015 Mar;25(3):257-61. doi: 10.1016/j.nmd.2014.11.017. Epub 2014 Dec 10.

24.

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Rossor AM, Oates EC, Salter HK, Liu Y, Murphy SM, Schule R, Gonzalez MA, Scoto M, Phadke R, Sewry CA, Houlden H, Jordanova A, Tournev I, Chamova T, Litvinenko I, Zuchner S, Herrmann DN, Blake J, Sowden JE, Acsadi G, Rodriguez ML, Menezes MP, Clarke NF, Auer Grumbach M, Bullock SL, Muntoni F, Reilly MM, North KN.

Brain. 2015 Feb;138(Pt 2):293-310. doi: 10.1093/brain/awu356. Epub 2014 Dec 14.

25.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF.

J Clin Invest. 2014 Nov;124(11):4693-708. doi: 10.1172/JCI75199. Epub 2014 Sep 24. Erratum in: J Clin Invest. 2015 Jan;125(1):456-7.

26.

Mutation update: the spectra of nebulin variants and associated myopathies.

Lehtokari VL, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs AH, Clarke NF, North KN, Laing NG, Romero NB, Winder TL, Pelin K, Wallgren-Pettersson C.

Hum Mutat. 2014 Dec;35(12):1418-26. doi: 10.1002/humu.22693.

27.

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.

O'Grady GL, Best HA, Oates EC, Kaur S, Charlton A, Brammah S, Punetha J, Kesari A, North KN, Ilkovski B, Hoffman EP, Clarke NF.

Eur J Hum Genet. 2015 Jun;23(6):883-6. doi: 10.1038/ejhg.2014.169. Epub 2014 Sep 3.

28.

Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues.

Inamori K, Willer T, Hara Y, Venzke D, Anderson ME, Clarke NF, Guicheney P, Bönnemann CG, Moore SA, Campbell KP.

J Biol Chem. 2014 Oct 10;289(41):28138-48. doi: 10.1074/jbc.M114.597831. Epub 2014 Aug 19.

29.

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

Menezes MP, Waddell L, Lenk GM, Kaur S, MacArthur DG, Meisler MH, Clarke NF.

Neuromuscul Disord. 2014 Aug;24(8):666-70. doi: 10.1016/j.nmd.2014.04.010. Epub 2014 May 4.

30.

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C.

Hum Mutat. 2014 Jul;35(7):779-90. doi: 10.1002/humu.22554. Epub 2014 May 1.

31.

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.

Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, Sandaradura SA, Nishino I, Hayashi YK, Sewry CA, Thompson EM, Yau KS, Brownstein CA, Yu TW, Allcock RJ, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH.

Am J Hum Genet. 2013 Dec 5;93(6):1108-17. doi: 10.1016/j.ajhg.2013.10.020. Epub 2013 Nov 21.

32.

Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.

Tajsharghi H, Hammans S, Lindberg C, Lossos A, Clarke NF, Mazanti I, Waddell LB, Fellig Y, Foulds N, Katifi H, Webster R, Raheem O, Udd B, Argov Z, Oldfors A.

Eur J Hum Genet. 2014 Jun;22(6):801-8. doi: 10.1038/ejhg.2013.250. Epub 2013 Nov 6.

33.

Recent advances in nemaline myopathy.

Romero NB, Sandaradura SA, Clarke NF.

Curr Opin Neurol. 2013 Oct;26(5):519-26. doi: 10.1097/WCO.0b013e328364d681. Review.

PMID:
23995272
34.

Genotype-phenotype correlations in recessive RYR1-related myopathies.

Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ.

Orphanet J Rare Dis. 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117.

35.

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG.

Am J Hum Genet. 2013 Jul 11;93(1):6-18. doi: 10.1016/j.ajhg.2013.05.004. Epub 2013 Jun 6.

36.

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.

Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, MacArthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, Strom TM, Schule R, Herrmann DN, Sowden JE, Acsadi G, Menezes MP, Clarke NF, Züchner S; UK10K, Muntoni F, North KN, Reilly MM.

Am J Hum Genet. 2013 Jun 6;92(6):965-73. doi: 10.1016/j.ajhg.2013.04.018. Epub 2013 May 9.

37.

Congenital myopathies.

Romero NB, Clarke NF.

Handb Clin Neurol. 2013;113:1321-36. doi: 10.1016/B978-0-444-59565-2.00004-6. Review.

PMID:
23622357
38.

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.

de Winter JM, Buck D, Hidalgo C, Jasper JR, Malik FI, Clarke NF, Stienen GJ, Lawlor MW, Beggs AH, Ottenheijm CA, Granzier H.

J Med Genet. 2013 Jun;50(6):383-92. doi: 10.1136/jmedgenet-2012-101470. Epub 2013 Apr 9.

39.

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.

Clarke NF, Amburgey K, Teener J, Camelo-Piragua S, Kesari A, Punetha J, Waddell LB, Davis M, Laing NG, Monnier N, North KN, Hoffman EP, Dowling JJ.

Neuromuscul Disord. 2013 May;23(5):432-6. doi: 10.1016/j.nmd.2013.02.009. Epub 2013 Mar 9.

40.

Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge.

Oates EC, Payne JM, Foster SL, Clarke NF, North KN.

Am J Med Genet A. 2013 Apr;161A(4):659-66. doi: 10.1002/ajmg.a.35840. Epub 2013 Feb 20.

PMID:
23427176
41.

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.

Mokbel N, Ilkovski B, Kreissl M, Memo M, Jeffries CM, Marttila M, Lehtokari VL, Lemola E, Grönholm M, Yang N, Menard D, Marcorelles P, Echaniz-Laguna A, Reimann J, Vainzof M, Monnier N, Ravenscroft G, McNamara E, Nowak KJ, Laing NG, Wallgren-Pettersson C, Trewhella J, Marston S, Ottenheijm C, North KN, Clarke NF.

Brain. 2013 Feb;136(Pt 2):494-507. doi: 10.1093/brain/aws348. Epub 2013 Jan 31.

42.

Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy.

Gibbs EM, Clarke NF, Rose K, Oates EC, Webster R, Feldman EL, Dowling JJ.

J Mol Med (Berl). 2013 Jun;91(6):727-37. doi: 10.1007/s00109-013-0994-4. Epub 2013 Jan 22.

PMID:
23338057
43.

Mapping domains and mutations on the skeletal muscle ryanodine receptor channel.

Hwang JH, Zorzato F, Clarke NF, Treves S.

Trends Mol Med. 2012 Nov;18(11):644-57. doi: 10.1016/j.molmed.2012.09.006. Epub 2012 Oct 12. Review.

PMID:
23069638
44.

Mutations in TPM2 and congenital fibre type disproportion.

Clarke NF, Waddell LB, Sie LT, van Bon BW, McLean C, Clark D, Kornberg A, Lammens M, North KN.

Neuromuscul Disord. 2012 Nov;22(11):955-8. doi: 10.1016/j.nmd.2012.06.002. Epub 2012 Jul 24.

PMID:
22832343
45.

Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.

Tasca G, Odgerel Z, Monforte M, Aurino S, Clarke NF, Waddell LB, Udd B, Ricci E, Goldfarb LG.

Muscle Nerve. 2012 Aug;46(2):275-82. doi: 10.1002/mus.23349.

46.

Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells.

Oates EC, Reddel S, Rodriguez ML, Gandolfo LC, Bahlo M, Hawke SH, Lamandé SR, Clarke NF, North KN.

Brain. 2012 Jun;135(Pt 6):1714-23. doi: 10.1093/brain/aws108.

PMID:
22628388
47.

Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy.

Menezes MP, Waddell LB, Evesson FJ, Cooper S, Webster R, Jones K, Mowat D, Kiernan MC, Johnston HM, Corbett A, Harbord M, North KN, Clarke NF.

Neurology. 2012 Apr 17;78(16):1258-63. doi: 10.1212/WNL.0b013e318250d839. Epub 2012 Apr 4.

PMID:
22491857
48.

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.

Penttilä S, Palmio J, Suominen T, Raheem O, Evilä A, Muelas Gomez N, Tasca G, Waddell LB, Clarke NF, Barboi A, Hackman P, Udd B.

Neurology. 2012 Mar 20;78(12):897-903. doi: 10.1212/WNL.0b013e31824c4682. Epub 2012 Mar 7. Erratum in: Neurology. 2013 Jan 8;80(2):226.

PMID:
22402862
49.

Congenital fiber-type disproportion.

Clarke NF.

Semin Pediatr Neurol. 2011 Dec;18(4):264-71. doi: 10.1016/j.spen.2011.10.008. Review.

PMID:
22172422
50.

Using complementary DNA from MyoD-transduced fibroblasts to sequence large muscle genes.

Waddell LB, Monnier N, Cooper ST, North KN, Clarke NF.

Muscle Nerve. 2011 Aug;44(2):280-2. doi: 10.1002/mus.22118.

PMID:
21755510

Supplemental Content

Loading ...
Support Center