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Items: 34

1.

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.

Servián-Morilla E, Cabrera-Serrano M, Rivas-Infante E, Carvajal A, Lamont PJ, Pelayo-Negro AL, Ravenscroft G, Junckerstorff R, Dyke JM, Fletcher S, Adams AM, Mavillard F, Fernández-García MA, Nieto-González JL, Laing NG, Paradas C.

Acta Neuropathol Commun. 2019 Mar 1;7(1):30. doi: 10.1186/s40478-019-0683-9.

2.

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
3.

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
4.

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.

5.

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
6.

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
7.

Response to Comment on Crews et al. Role and Determinants of Adherence to Off-loading in Diabetic Foot Ulcer Healing: A Prospective Investigation. Diabetes Care 2016;39:1371-1377.

Crews RT, Shen BJ, Campbell L, Lamont PJ, Hardman M, Boulton AJ, Peyrot M, Kirsner RS, Vileikyte L.

Diabetes Care. 2016 Dec;39(12):e222-e223. No abstract available.

PMID:
27879362
8.

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
9.

Role and Determinants of Adherence to Off-loading in Diabetic Foot Ulcer Healing: A Prospective Investigation.

Crews RT, Shen BJ, Campbell L, Lamont PJ, Boulton AJ, Peyrot M, Kirsner RS, Vileikyte L.

Diabetes Care. 2016 Aug;39(8):1371-7. doi: 10.2337/dc15-2373. Epub 2016 Jun 6.

10.

A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome.

Duff RM, Shearwood AM, Ermer J, Rossetti G, Gooding R, Richman TR, Balasubramaniam S, Thorburn DR, Rackham O, Lamont PJ, Filipovska A.

Mitochondrion. 2015 Nov;25:113-9. doi: 10.1016/j.mito.2015.10.008. Epub 2015 Oct 30.

PMID:
26524491
11.

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.

12.

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
13.

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
14.

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG.

Hum Mutat. 2014 Jul;35(7):868-79. doi: 10.1002/humu.22553. Epub 2014 May 21.

15.

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.

Cullup T, Lamont PJ, Cirak S, Damian MS, Wallefeld W, Gooding R, Tan SV, Sheehan J, Muntoni F, Abbs S, Sewry CA, Dubowitz V, Laing NG, Jungbluth H.

Neuromuscul Disord. 2012 Dec;22(12):1096-104. doi: 10.1016/j.nmd.2012.06.007. Epub 2012 Jul 10.

PMID:
22784669
16.

Clinical utility gene card for: nemaline myopathy.

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

Eur J Hum Genet. 2012 Jun;20(6). doi: 10.1038/ejhg.2012.70. Epub 2012 Apr 18. No abstract available.

17.

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.

Swalwell H, Kirby DM, Blakely EL, Mitchell A, Salemi R, Sugiana C, Compton AG, Tucker EJ, Ke BX, Lamont PJ, Turnbull DM, McFarland R, Taylor RW, Thorburn DR.

Eur J Hum Genet. 2011 Jul;19(7):769-75. doi: 10.1038/ejhg.2011.18. Epub 2011 Mar 2.

18.

Thick filament diseases.

Oldfors A, Lamont PJ.

Adv Exp Med Biol. 2008;642:78-91. Review.

PMID:
19181095
19.

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.

Pace RA, Peat RA, Baker NL, Zamurs L, Mörgelin M, Irving M, Adams NE, Bateman JF, Mowat D, Smith NJ, Lamont PJ, Moore SA, Mathews KD, North KN, Lamandé SR.

Ann Neurol. 2008 Sep;64(3):294-303. doi: 10.1002/ana.21439.

20.

Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.

Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, Patton MA, Hentati A, Lamont PJ, Siddique T, Crosby AH.

Am J Hum Genet. 2008 Feb;82(2):510-5. doi: 10.1016/j.ajhg.2007.10.001. Epub 2008 Jan 18.

21.

Quality of life in Friedreich ataxia: what clinical, social and demographic factors are important?

Wilson CL, Fahey MC, Corben LA, Collins VR, Churchyard AJ, Lamont PJ, Delatycki MB.

Eur J Neurol. 2007 Sep;14(9):1040-7.

PMID:
17718698
22.

Distal myopathies.

Mastaglia FL, Lamont PJ, Laing NG.

Curr Opin Neurol. 2005 Oct;18(5):504-10. Review.

PMID:
16155432
23.

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy.

Lamont PJ, Udd B, Mastaglia FL, de Visser M, Hedera P, Voit T, Bridges LR, Fabian V, Rozemuller A, Laing NG.

J Neurol Neurosurg Psychiatry. 2006 Feb;77(2):208-15. Epub 2005 Aug 15.

24.

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.

Neuropediatrics. 2004 Oct;35(5):302-6.

PMID:
15534765
25.

An expansion in the ZNF9 gene causes PROMM in a previously described family with an incidental CLCN1 mutation.

Lamont PJ, Jacob RL, Mastaglia FL, Laing NG.

J Neurol Neurosurg Psychiatry. 2004 Feb;75(2):343. No abstract available.

26.

Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions.

Brooks WS, Kwok JB, Kril JJ, Broe GA, Blumbergs PC, Tannenberg AE, Lamont PJ, Hedges P, Schofield PR.

Brain. 2003 Apr;126(Pt 4):783-91.

PMID:
12615638
27.

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.

Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers ZM, Andrews RM, Nelson IP, Wood NW, Lamont PJ, Hanna MG, Lightowlers RN, Turnbull DM.

Am J Hum Genet. 1999 May;64(5):1330-9.

28.

Clinical and laboratory findings in referrals for mitochondrial DNA analysis.

Lamont PJ, Surtees R, Woodward CE, Leonard JV, Wood NW, Harding AE.

Arch Dis Child. 1998 Jul;79(1):22-7.

29.

Fifty year follow-up of a patient with central core disease shows slow but definite progression.

Lamont PJ, Dubowitz V, Landon DN, Davis M, Morgan-Hughes JA.

Neuromuscul Disord. 1998 Aug;8(6):385-91.

PMID:
9713855
30.

A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome.

Chalmers RM, Lamont PJ, Nelson I, Ellison DW, Thomas NH, Harding AE, Hammans SR.

Neurology. 1997 Aug;49(2):589-92.

PMID:
9270602
31.

Pearson's syndrome without marrow involvement.

Morris AA, Lamont PJ, Clayton PT.

Arch Dis Child. 1997 Jul;77(1):56-7.

33.

Recurrent lymphomatoid granulomatosis and isolated CNS involvement.

Sekhon LH, Morgan MK, Salisbury EL, Grace J, Lamont PJ.

J Clin Neurosci. 1995 Apr;2(2):163-6.

PMID:
18638804
34.

Plasmapheresis in children with Guillain-Barré syndrome.

Lamont PJ, Johnston HM, Berdoukas VA.

Neurology. 1991 Dec;41(12):1928-31.

PMID:
1745351

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