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Items: 1 to 50 of 233

1.

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction.

Lee RG, Sedghi M, Salari M, Shearwood AJ, Stentenbach M, Kariminejad A, Goullee H, Rackham O, Laing NG, Tajsharghi H, Filipovska A.

Neurol Genet. 2018 Oct 5;4(5):e276. doi: 10.1212/NXG.0000000000000276. eCollection 2018 Oct.

PMID:
30338296
2.

Bi-allelic mutations in MYL1 cause a severe congenital myopathy.

Ravenscroft G, Zaharieva I, Bortolotti CA, Lambrughi M, Pignataro M, Borsari M, Sewry CA, Phadke R, Haliloglu G, Ong R, Goullée H, Whyte T; UK10K Consortium, Manzur A, Talim B, Kaya U, Osborn DP, Forrest A, Laing NG, Muntoni F.

Hum Mol Genet. 2018 Sep 12. doi: 10.1093/hmg/ddy320. [Epub ahead of print]

PMID:
30215711
3.

STRetch: detecting and discovering pathogenic short tandem repeat expansions.

Dashnow H, Lek M, Phipson B, Halman A, Sadedin S, Lonsdale A, Davis M, Lamont P, Clayton JS, Laing NG, MacArthur DG, Oshlack A.

Genome Biol. 2018 Aug 21;19(1):121. doi: 10.1186/s13059-018-1505-2.

4.

Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening.

Ong R, Howting D, Rea A, Christian H, Charman P, Molster C, Ravenscroft G, Laing NG.

J Med Genet. 2018 Aug 1. pii: jmedgenet-2018-105362. doi: 10.1136/jmedgenet-2018-105362. [Epub ahead of print]

PMID:
30068663
5.

L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle α-actin nemaline myopathy.

Messineo AM, Gineste C, Sztal TE, McNamara EL, Vilmen C, Ogier AC, Hahne D, Bendahan D, Laing NG, Bryson-Richardson RJ, Gondin J, Nowak KJ.

Sci Rep. 2018 Jul 31;8(1):11490. doi: 10.1038/s41598-018-29437-z.

6.

Genetics of neuromuscular fetal akinesia in the genomics era.

Beecroft SJ, Lombard M, Mowat D, McLean C, Cairns A, Davis M, Laing NG, Ravenscroft G.

J Med Genet. 2018 Aug;55(8):505-514. doi: 10.1136/jmedgenet-2018-105266. Epub 2018 Jun 29.

PMID:
29959180
7.

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

Cabrera-Serrano M, Mavillard F, Biancalana V, Rivas E, Morar B, Hernández-Laín A, Olive M, Muelas N, Khan E, Carvajal A, Quiroga P, Diaz-Manera J, Davis M, Ávila R, Domínguez C, Romero NB, Vílchez JJ, Comas D, Laing NG, Laporte J, Kalaydjieva L, Paradas C.

Neurology. 2018 Jul 24;91(4):e339-e348. doi: 10.1212/WNL.0000000000005862. Epub 2018 Jun 27.

PMID:
29950440
8.

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.

Ravenscroft G, Pannell S, O'Grady G, Ong R, Ee HC, Faiz F, Marns L, Goel H, Kumarasinghe P, Sollis E, Sivadorai P, Wilson M, Magoffin A, Nightingale S, Freckmann ML, Kirk EP, Sachdev R, Lemberg DA, Delatycki MB, Kamm MA, Basnayake C, Lamont PJ, Amor DJ, Jones K, Schilperoort J, Davis MR, Laing NG.

Neurogastroenterol Motil. 2018 Sep;30(9):e13371. doi: 10.1111/nmo.13371. Epub 2018 May 21.

PMID:
29781137
9.

Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).

Coote DJ, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ.

Eur J Hum Genet. 2018 Jul;26(7):1072-1077. doi: 10.1038/s41431-017-0065-3. Epub 2018 Apr 26. No abstract available.

PMID:
29695755
10.

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.

PMID:
29691892
11.

Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.

Hobbelink SMR, Brockley CR, Kennedy RA, Carroll K, de Valle K, Rao P, Davis MR, Laing NG, Voermans NC, Ryan MM, Yiu EM.

Brain Behav. 2018 Feb 21;8(4):e00919. doi: 10.1002/brb3.919. eCollection 2018 Apr.

12.

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.

Lassuthova P, Rebelo AP, Ravenscroft G, Lamont PJ, Davis MR, Manganelli F, Feely SM, Bacon C, Brožková DŠ, Haberlova J, Mazanec R, Tao F, Saghira C, Abreu L, Courel S, Powell E, Buglo E, Bis DM, Baxter MF, Ong RW, Marns L, Lee YC, Bai Y, Isom DG, Barro-Soria R, Chung KW, Scherer SS, Larsson HP, Laing NG, Choi BO, Seeman P, Shy ME, Santoro L, Zuchner S.

Am J Hum Genet. 2018 Mar 1;102(3):505-514. doi: 10.1016/j.ajhg.2018.01.023.

13.

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies.

Nilipour Y, Nafissi S, Tjust AE, Ravenscroft G, Hossein Nejad Nedai H, Taylor RL, Varasteh V, Pedrosa Domellöf F, Zangi M, Tonekaboni SH, Olivé M, Kiiski K, Sagath L, Davis MR, Laing NG, Tajsharghi H.

Eur J Neurol. 2018 Jun;25(6):841-847. doi: 10.1111/ene.13607. Epub 2018 Mar 26.

PMID:
29498452
14.

Clinical Utility Gene Card for: Becker muscular dystrophy.

Coote D, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ.

Eur J Hum Genet. 2018 Jul;26(7):1065-1071. doi: 10.1038/s41431-017-0064-4. Epub 2018 Feb 21. No abstract available.

PMID:
29467387
15.

CUGC for Duchenne muscular dystrophy (DMD).

Coote DJ, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ.

Eur J Hum Genet. 2018 May;26(5):749-757. doi: 10.1038/s41431-017-0013-2. Epub 2018 Jan 12. No abstract available.

PMID:
29330543
16.

Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice.

Tinklenberg JA, Siebers EM, Beatka MJ, Meng H, Yang L, Zhang Z, Ross JA, Ochala J, Morris C, Owens JM, Laing NG, Nowak KJ, Lawlor MW.

Hum Mol Genet. 2018 Feb 15;27(4):638-648. doi: 10.1093/hmg/ddx431.

PMID:
29293963
17.

Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.

Sandaradura SA, Bournazos A, Mallawaarachchi A, Cummings BB, Waddell LB, Jones KJ, Troedson C, Sudarsanam A, Nash BM, Peters GB, Algar EM, MacArthur DG, North KN, Brammah S, Charlton A, Laing NG, Wilson MJ, Davis MR, Cooper ST.

Hum Mutat. 2018 Mar;39(3):383-388. doi: 10.1002/humu.23385. Epub 2018 Jan 13.

PMID:
29266598
18.

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.

Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS.

Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4. Review.

PMID:
29214566
19.

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.

20.

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.

Kariminejad A, Dahl-Halvarsson M, Ravenscroft G, Afroozan F, Keshavarz E, Goullée H, Davis MR, Faraji Zonooz M, Najmabadi H, Laing NG, Tajsharghi H.

Brain. 2017 Nov 1;140(11):2851-2859. doi: 10.1093/brain/awx230.

PMID:
29053766
21.

Variable cardiac α-actin (Actc1) expression in early adult skeletal muscle correlates with promoter methylation.

Boutilier JK, Taylor RL, Ram R, McNamara E, Nguyen Q, Goullée H, Chandler D, Mehta M, Balmer L, Laing NG, Morahan G, Nowak KJ.

Biochim Biophys Acta Gene Regul Mech. 2017 Oct;1860(10):1025-1036. doi: 10.1016/j.bbagrm.2017.08.004. Epub 2017 Aug 26.

PMID:
28847732
22.

Gene Expression Networks in the Murine Pulmonary Myocardium Provide Insight into the Pathobiology of Atrial Fibrillation.

Boutilier JK, Taylor RL, Mann T, McNamara E, Hoffman GJ, Kenny J, Dilley RJ, Henry P, Morahan G, Laing NG, Nowak KJ.

G3 (Bethesda). 2017 Sep 7;7(9):2999-3017. doi: 10.1534/g3.117.044651.

23.

Cystinosis distal myopathy, novel clinical, pathological and genetic features.

Cabrera-Serrano M, Junckerstorff RC, Alisheri A, Pestronk A, Laing NG, Weihl CC, Lamont PJ.

Neuromuscul Disord. 2017 Sep;27(9):873-878. doi: 10.1016/j.nmd.2017.05.010. Epub 2017 May 15.

PMID:
28629674
24.

Expanding the phenotypic spectrum associated with mutations of DYNC1H1.

Beecroft SJ, McLean CA, Delatycki MB, Koshy K, Yiu E, Haliloglu G, Orhan D, Lamont PJ, Davis MR, Laing NG, Ravenscroft G.

Neuromuscul Disord. 2017 Jul;27(7):607-615. doi: 10.1016/j.nmd.2017.04.011. Epub 2017 May 5.

PMID:
28554554
25.

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.

26.

Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene.

Abdalla E, Ravenscroft G, Zayed L, Beecroft SJ, Laing NG.

Neuromuscul Disord. 2017 Jun;27(6):537-541. doi: 10.1016/j.nmd.2017.01.013. Epub 2017 Jan 18.

PMID:
28336317
27.

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria.

Ravenscroft G, Di Donato N, Hahn G, Davis MR, Craven PD, Poke G, Neas KR, Neuhann TM, Dobyns WB, Laing NG.

Neuromuscul Disord. 2016 Nov;26(11):744-748. doi: 10.1016/j.nmd.2016.09.009. Epub 2016 Sep 19.

PMID:
27751653
28.

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.

29.

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

Guimier A, Gordon CT, Godard F, Ravenscroft G, Oufadem M, Vasnier C, Rambaud C, Nitschke P, Bole-Feysot C, Masson C, Dauger S, Longman C, Laing NG, Kugener B, Bonnet D, Bouvagnet P, Di Filippo S, Probst V, Redon R, Charron P, Rötig A, Lyonnet S, Dautant A, de Pontual L, di Rago JP, Delahodde A, Amiel J.

Am J Hum Genet. 2016 Sep 1;99(3):666-673. doi: 10.1016/j.ajhg.2016.06.021. Epub 2016 Aug 11.

30.

New era in genetics of early-onset muscle disease: Breakthroughs and challenges.

Ravenscroft G, Davis MR, Lamont P, Forrest A, Laing NG.

Semin Cell Dev Biol. 2017 Apr;64:160-170. doi: 10.1016/j.semcdb.2016.08.002. Epub 2016 Aug 9.

PMID:
27519468
31.

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.

Scalco RS, Gardiner AR, Pitceathly RD, Hilton-Jones D, Schapira AH, Turner C, Parton M, Desikan M, Barresi R, Marsh J, Manzur AY, Childs AM, Feng L, Murphy E, Lamont PJ, Ravenscroft G, Wallefeld W, Davis MR, Laing NG, Holton JL, Fialho D, Bushby K, Hanna MG, Phadke R, Jungbluth H, Houlden H, Quinlivan R.

Neuromuscul Disord. 2016 Aug;26(8):504-10. doi: 10.1016/j.nmd.2016.05.006. Epub 2016 May 11.

PMID:
27312022
32.

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
33.

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F.

Brain. 2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. Epub 2015 Dec 22.

34.

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.

35.

Health care utilization and costs for children and adults with duchenne muscular dystrophy.

Teoh LJ, Geelhoed EA, Bayley K, Leonard H, Laing NG.

Muscle Nerve. 2016 Jun;53(6):877-84. doi: 10.1002/mus.24965. Epub 2016 May 9.

PMID:
26562484
36.

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
37.

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.

38.

Complex sarcolemmal invaginations mimicking myotendinous junctions in a case of Laing early-onset distal myopathy.

Reis GF, de la Motte G, Gooding R, Laing NG, Margeta M.

Neuropathology. 2015 Dec;35(6):575-81. doi: 10.1111/neup.12220. Epub 2015 Jun 10.

39.

Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.

Ravenscroft G, Nolent F, Rajagopalan S, Meireles AM, Paavola KJ, Gaillard D, Alanio E, Buckland M, Arbuckle S, Krivanek M, Maluenda J, Pannell S, Gooding R, Ong RW, Allcock RJ, Carvalho ED, Carvalho MD, Kok F, Talbot WS, Melki J, Laing NG.

Am J Hum Genet. 2015 Jun 4;96(6):955-61. doi: 10.1016/j.ajhg.2015.04.014. Epub 2015 May 21.

40.

Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function.

Sztal TE, Zhao M, Williams C, Oorschot V, Parslow AC, Giousoh A, Yuen M, Hall TE, Costin A, Ramm G, Bird PI, Busch-Nentwich EM, Stemple DL, Currie PD, Cooper ST, Laing NG, Nowak KJ, Bryson-Richardson RJ.

Acta Neuropathol. 2015 Sep;130(3):389-406. doi: 10.1007/s00401-015-1430-3. Epub 2015 May 1.

41.

Laing Distal Myopathy.

Lamont P, Laing NG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Oct 17 [updated 2015 Mar 12].

42.

Clinical utility gene card for: Nemaline myopathy - update 2015.

Nowak KJ, Davis MR, Wallgren-Pettersson C, Lamont PJ, Laing NG.

Eur J Hum Genet. 2015 Nov;23(11). doi: 10.1038/ejhg.2015.12. Epub 2015 Feb 25. No abstract available.

43.

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
44.

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.

45.

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.

Ravenscroft G, Laing NG, Bönnemann CG.

Brain. 2015 Feb;138(Pt 2):246-68. doi: 10.1093/brain/awu368. Epub 2014 Dec 31. Review.

46.

Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2.

Cabrera-Serrano M, Fabian VA, Boutilier J, Wise C, Faiz F, Lamont PJ, Laing NG.

Clin Genet. 2015 Dec;88(6):573-8. doi: 10.1111/cge.12552. Epub 2015 Jan 20.

PMID:
25529940
47.

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.

48.

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.

49.

Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.

Cabrera-Serrano M, Junckerstorff RC, Atkinson V, Sivadorai P, Allcock RJ, Lamont P, Laing NG.

Muscle Nerve. 2015 Jan;51(1):140-3. doi: 10.1002/mus.24446. Epub 2014 Nov 22.

PMID:
25187204
50.

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloğlu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH.

Am J Hum Genet. 2014 Aug 7;95(2):218-26. doi: 10.1016/j.ajhg.2014.07.004. Epub 2014 Jul 31.

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