Neurogenetic diseases


2017 publications

  1. Kariminejad, A., M. Dahl-Halvarsson, G. Ravenscroft, F. Afroozan, E. Keshavarz, H. Goullee, M. R. Davis, M. Faraji Zonooz, H. Najmabadi, N. G. Laing and H. Tajsharghi (2017). "TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor." Brain 140: 2851-2859. [NCBI PubMed Entry]

  2. Boutilier, J.K., Taylor, R.L., Ram, R., McNamara, E., Nguyen, Q., Goullee, H., Chandler, D., Mehta, M., Balmer, L., Laing, N.G., et al. (2017). Variable cardiac alpha-actin (Actc1) expression in early adult skeletal muscle correlates with promoter methylation. Biochim Biophys Acta 1860, 1025-1036. [NCBI PubMed Entry]

  3. Abdalla, E., Ravenscroft, G., Zayed, L., Beecroft, S. J., and Laing, N. G. (2017) Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene. Neuromuscul Disord 27, 537-541 [NCBI PubMed Entry]

  4. Molster, C. M., Lister, K., Metternick-Jones, S., Baynam, G., Clarke, A. J., Straub, V., Dawkins, H. J., and Laing, N. (2017) Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments. Front Public Health 5, 25 [NCBI PubMed Entry]

  5. Ravenscroft, G., Davis, M. R., Lamont, P., Forrest, A., and Laing, N. G. (2017) New era in genetics of early-onset muscle disease: Breakthroughs and challenges. Semin Cell Dev Biol 64: 160-170 [NCBI PubMed Entry]

  6. Schofield, D., Alam, K., Douglas, L., Shrestha, R., MacArthur, D. G., Davis, M., Laing, N. G., Clarke, N. F., Burns, J., Cooper, S. T., North, K. N., Sandaradura, S. A., and O'Grady, G. L. (2017) Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases. NPJ Gen Med 2, 4 [Download PDF]

  7. Beecroft, S. J., McLean, C. A., Delatycki, M. B., Koshy, K., Yiu, E., Haliloglu, G., Orhan, D., Lamont, P. J., Davis, M. R., Laing, N. G., and Ravenscroft, G. (2017) Expanding the phenotypic spectrum associated with mutations of DYNC1H1. Neuromuscul Disord 27, 607-615 [NCBI PubMed Entry]

  8. Cummings, B. B., Marshall, J. L., Tukiainen, T., Lek, M., Donkervoort, S., Foley, A. R., Bolduc, V., Waddell, L. B., Sandaradura, S. A., O'Grady, G. L., Estrella, E., Reddy, H. M., Zhao, F., Weisburd, B., Karczewski, K. J., O'Donnell-Luria, A. H., Birnbaum, D., Sarkozy, A., Hu, Y., Gonorazky, H., Claeys, K., Joshi, H., Bournazos, A., Oates, E. C., Ghaoui, R., Davis, M. R., Laing, N. G., Topf, A., Genotype-Tissue Expression, C., Kang, P. B., Beggs, A. H., North, K. N., Straub, V., Dowling, J. J., Muntoni, F., Clarke, N. F., Cooper, S. T., Bonnemann, C. G., and MacArthur, D. G. (2017) Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med [NCBI PubMed Entry]

  9. Cabrera-Serrano, M., Junckerstorff, R.C., Alisheri, A., Pestronk, A., Laing, N.G., Weihl, C.C., and Lamont, P.J. (2017). Cystinosis distal myopathy, novel clinical, pathological and genetic features. Neuromuscul Discord. 27: 873-878. [NCBI PubMed Entry]

2016 publications

  1. O'Grady, G. L., H. A. Best, T. E. Sztal, V. Schartner, M. Sanjuan-Vazquez, S. Donkervoort, O. Abath Neto, R. B. Sutton, B. Ilkovski, N. B. Romero, T. Stojkovic, J. Dastgir, L. B. Waddell, A. Boland, Y. Hu, C. Williams, A. A. Ruparelia, T. Maisonobe, A. J. Peduto, S. W. Reddel, M. Lek, T. Tukiainen, B. B. Cummings, H. Joshi, J. Nectoux, S. Brammah, J. F. Deleuze, V. O. Ing, G. Ramm, D. Ardicli, K. J. Nowak, B. Talim, H. Topaloglu, N. G. Laing, K. N. North, D. G. MacArthur, S. Friant, N. F. Clarke, R. J. Bryson-Richardson, C. G. Bonnemann, J. Laporte and S. T. Cooper (2016). "Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization." Am J Hum Genet 99(5): 1086-1105. [NCBI PubMed Entry]

  2. Ravenscroft, G., N. Di Donato, G. Hahn, M. R. Davis, P. D. Craven, G. Poke, K. R. Neas, T. M. Neuhann, W. B. Dobyns and N. G. Laing (2016). "Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria." Neuromuscul Disord 26(11): 744-748. 

  3. Guimier, A., C.T. Gordon, F. Godard, G. Ravenscroft, M. Oufadem, C. Vasnier, C. Rambaud, P. Nitschke, C. Bole-Feysot, C. Masson, S. Dauger, C. Longman, N.G. Laing, B. Kugener, D. Bonnet, P. Bouvagnet, S. Di Filippo, V. Probst, R. Redon, P. Charron, A. Rotig, S. Lyonnet, A. Dautant, L. de Pontual, J.P. di Rago, A. Delahodde, and J. Amiel. 2016. Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy. Am J Hum Genet. 99:666-673.

  4. Zaharieva, I. T., M. G. Thor, E. C. Oates, C. van Karnebeek, G. Hendson, E. Blom, N. Witting, M. Rasmussen, M. T. Gabbett, G. Ravenscroft, M. Sframeli, K. Suetterlin, A. Sarkozy, L. D'Argenzio, L. Hartley, E. Matthews, M. Pitt, J. Vissing, M. Ballegaard, C. Krarup, A. Slordahl, H. Halvorsen, X. C. Ye, L. H. Zhang, N. Lokken, U. Werlauff, M. Abdelsayed, M. R. Davis, L. Feng, R. Phadke, C. A. Sewry, J. E. Morgan, N. G. Laing, H. Vallance, P. Ruben, M. G. Hanna, S. Lewis, E. J. Kamsteeg, R. Mannikko and F. Muntoni (2016). "Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy." Brain 139(Pt 3): 674-691.

  5. Teoh, L. J., E. A. Geelhoed, K. Bayley, H. Leonard and N. G. Laing (2016). "Health care utilization and costs for children and adults with duchenne muscular dystrophy." Muscle Nerve 53(6): 877-884. [NCBI PubMed Entry]

  6. Laing N. What is the role for preconception carrier screening in neurology? Advances in Clinical Neuroscience and Rehabilitation (ACNR) 2016;16(1):5-6. [Download PDF]

  7. Baynam, G., N. Pachter, F. McKenzie, S. Townshend, J. Slee, C. Kiraly-Borri, A. Vasudevan, A. Hawkins, S. Broley, L. Schofield, H. Verhoef, C. E. Walker, C. Molster, J. M. Blackwell, S. Jamieson, D. Tang, T. Lassmann, K. Mina, J. Beilby, M. Davis, N. Laing, L. Murphy, T. Weeramanthri, H. Dawkins and J. Goldblatt (2016). "The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service." Orphanet J Rare Dis 11(1): 77. [NCBI PubMed Entry]

  8. O'Grady, G. L., M. Lek, S. R. Lamande, L. Waddell, E. C. Oates, J. Punetha, R. Ghaoui, S. A. Sandaradura, H. Best, S. Kaur, M. Davis, N. G. Laing, F. Muntoni, E. Hoffman, D. G. MacArthur, N. F. Clarke, S. Cooper and K. North (2016). "Diagnosis and etiology of congenital muscular dystrophy: We are halfway there." Ann Neurol 80(1): 101-111. [NCBI PubMed Entry]

  9. Scalco, R.S., A.R. Gardiner, R.D. Pitceathly, D. Hilton-Jones, A.H. Schapira, C. Turner, M. Parton, M. Desikan, R. Barresi, J. Marsh, A.Y. Manzur, A.M. Childs, L. Feng, E. Murphy, P.J. Lamont, G. Ravenscroft, W. Wallefeld, M.R. Davis, N.G. Laing, J.L. Holton, D. Fialho, K. Bushby, M.G. Hanna, R. Phadke, H. Jungbluth, H. Houlden, and R. Quinlivan. 2016. CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies. Neuromuscul Disord. 26:504-510. [NCBI PubMed Entry]

2015 publications

  1. Donkervoort, S., M. Papadaki, J. M. de Winter, M. B. Neu, J. Kirschner, V. Bolduc, M. L. Yang, M. A. Gibbons, Y. Hu, J. Dastgir, M. E. Leach, A. Rutkowski, A. R. Foley, M. Kruger, E. P. Wartchow, E. McNamara, R. Ong, K. J. Nowak, N. G. Laing, N. F. Clarke, C. A. Ottenheijm, S. B. Marston and C. G. Bonnemann (2015). "TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype." Ann Neurol78(6): 982-994. [NCBI PubMed Entry]
  2. Ghaoui, R., S. T. Cooper, M. Lek, K. Jones, A. Corbett, S. W. Reddel, M. Needham, C. Liang, L. B. Waddell, G. Nicholson, G. O'Grady, S. Kaur, R. Ong, M. Davis, C. M. Sue, N. G. Laing, K. N. North, D. G. MacArthur and N. F. Clarke (2015). "Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned." JAMA Neurol 72(12): 1424-1432. [NCBI PubMed Entry]

  3. Nowak, K. J., M. R. Davis, C. Wallgren-Pettersson, P. J. Lamont and N. G. Laing (2015). "Clinical utility gene card for: Nemaline myopathy." Eur J Hum Genet 23(11). [NCBI PubMed Entry]

  4. Cabrera-Serrano, M., R.C. Junckerstorff, V. Atkinson, P. Sivadorai, R.J. Allcock, P. Lamont, and N.G. Laing. 2015. Novel CHKB mutation expands the megaconial muscular dystrophy phenotype. Muscle Nerve. 51:140-143. [NCBI PubMed Entry]

  5. Ravenscroft, G., N. G. Laing and C. G. Bonnemann (2015). "Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus." Brain 138(Pt 2): 246-268. [NCBI PubMed Entry]

  6. Cabrera-Serrano, M., R. Ghaoui, G. Ravenscroft, R. D. Johnsen, M. R. Davis, A. Corbett, S. Reddel, C. M. Sue, C. Liang, L. B. Waddell, S. Kaur, M. Lek, K. N. North, D. G. MacArthur, P. J. Lamont, N. F. Clarke and N. G. Laing (2015). "Expanding the phenotype of GMPPB mutations." Brain 138(Pt 4): 836-844. [NCBI PubMed Entry]

  7. Ravenscroft, G., F. Nolent, S. Rajagopalan, A. M. Meireles, K. J. Paavola, D. Gaillard, E. Alanio, M. Buckland, S. Arbuckle, M. Krivanek, J. Maluenda, S. Pannell, R. Gooding, R. W. Ong, R. J. Allcock, E. D. Carvalho, M. D. Carvalho, F. Kok, W. S. Talbot, J. Melki and N. G. Laing (2015). "Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita." Am J Hum Genet 96(6): 955-961. [NCBI PubMed Entry]

  8. Baynam G, OverkovA, Davis M, Mina K, Schofield L, Allcock R, Laing N, Cook M, Dawkins H, Goldblatt J. 2015. A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. Am J Med Genet Part A 167A:1659–1667. [PubMed Entry]

  9. Tamar E. Sztal, Mo Zhao, Caitlin Williams, Viola Oorschot, Adam C. Parslow, Aminah Giousoh, Michaela Yuen, Thomas E. Hall, Adam Costin, Georg Ramm, Phillip I. Bird, Elisabeth M. Busch-Nentwich, Derek L. Stemple, Peter D. Currie, Sandra T. Cooper, Nigel G. Laing, Kristen J. Nowak, and Robert J. Bryson-Richardson. 2015. Zebrafish models of nemaline myopathy. Acta Neuropathologica 130; 389-406[2]. [NCBI PubMed Entry]

  10. Cabrera-Serrano, M., V. A. Fabian, J. Boutilier, C. Wise, F. Faiz, P. J. Lamont and N. G. Laing (2015). "Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2." Clin Genet 88(6): 573-578. [NCBI PubMed Entry]

  11. Todd, E. J., K. S. Yau, R. Ong, J. Slee, G. McGillivray, C. P. Barnett, G. Haliloglu, B. Talim, Z. Akcoren, A. Kariminejad, A. Cairns, N. F. Clarke, M. L. Freckmann, N. B. Romero, D. Williams, C. A. Sewry, A. Colley, M. M. Ryan, C. Kiraly-Borri, P. Sivadorai, R. J. Allcock, D. Beeson, S. Maxwell, M. R. Davis, N. G. Laing and G. Ravenscroft (2015). "Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth." Orphanet J Rare Dis 10(1): 148. [NCBI PubMed Entry]

  12. 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 (2015). “Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.” Hum Mol Genet 15;24(22):6278-92. [NCBI PubMed Entry]

  13. Ochala J, Ravenscroft G, McNamara E, Nowak KJ, Iwamoto H (2015). "X-ray recordings reveal how a human disease-linked skeletal muscle α-actin mutation leads to contractile dysfunction." J Struct Biol. 192(3):331-5. [NCBI PubMed Entry] 

  14. Duff, R. M., A. M. Shearwood, J. Ermer, G. Rossetti, R. Gooding, T. R. Richman, S. Balasubramaniam, D. R. Thorburn, O. Rackham, P. J. Lamont and A. Filipovska (2015). "A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome." Mitochondrion 25: 113-119. [NCBI PubMed Entry]

  15. Reis, G. F., G. de la Motte, R. Gooding, N. G. Laing and M. Margeta (2015). "Complex sarcolemmal invaginations mimicking myotendinous junctions in a case of Laing early-onset distal myopathy." Neuropathology 35(6): 575-581. [NCBI PubMed Entry]

2014 publications

  1. North, K. N., C. H. Wang, N. Clarke, H. Jungbluth, M. Vainzof, J. J. Dowling, K. Amburgey, S. Quijano-Roy, A. H. Beggs, C. Sewry, N. G. Laing, C. G. Bonnemann and Members International Standard of Care Committee for Congenital Myopathies (2014). "Approach to the diagnosis of congenital myopathies." Neuromuscul Disord 24(2): 97-116. [NCBI PubMed Entry]
  2. Finsterer, J., Stollberger, C., Brandau, O., Laccone, F., Bichler, K., and Laing, N.G. (2014). Novel MYH7 mutation associated with mild myopathy but life-threatening ventricular arrhythmias and noncompaction. Int J Cardiol 173, 532-535. [NCBI PubMed Entry]
  3. Barnett CP, Todd EJ, Ong R, Davis MR, Atkinson V, Allcock R, Laing N, Ravenscroft G. 2014. Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1. Am J Med Genet Part A 164A:1846–1849. [Wiley Online Library]
  4. Finsterer, J., O. Brandau, C. Stollberger, W. Wallefeld, N. G. Laing and F. Laccone (2014). "Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation." Neuromuscul Disord 24(8): 721-725. [NCBI PubMed Entry]
  5. Ravenscroft, G., Clarke, N.F., and Laing, N.G. (2014). Congenital/ultrastructural myopathies. In Oxford Textbook of Neuromuscular Disorders, D. Hilton-Jones and M.R. Turner, eds. Oxford University Press, pp 277-287.
  6. Lamont, P. J., W. Wallefeld, D. Hilton-Jones, B. Udd, Z. Argov, A. C. Barboi, C. Bonneman, K. M. Boycott, K. Bushby, A. M. Connolly, N. Davies, A. H. Beggs, G. F. Cox, J. Dastgir, E. T. DeChene, R. Gooding, H. Jungbluth, N. Muelas, J. Palmio, S. Penttila, E. Schmedding, T. Suominen, V. Straub, C. Staples, P. Y. Van den Bergh, J. J. Vilchez, K. R. Wagner, P. G. Wheeler, E. Wraige and N. G. Laing (2014). "Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/beta-Cardiac Myosin (MYH7) Distal Myopathy." Hum Mutat 35(7): 868-879. [NCBI PubMed Entry]
  7. 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. (2014). "Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies". Hum Mutat. 35(7):779-90. [NCBI PubMed Entry]
  8. Garg, A., J. O'Rourke, C. Long, J. Doering, G. Ravenscroft, S. Bezprozvannaya, B. R. Nelson, N. Beetz, L. Li, S. Chen, N. G. Laing, R. W. Grange, R. Bassel-Duby and E. N. Olson (2014). "KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy." J Clin Invest 124(8): 3529-3539. [NCBI PubMed Entry]
  9. Ong, R. W., A. Alsaman, D. Selcen, A. Arabshahi, K. S. Yau, G. Ravenscroft, R. M. Duff, V. Atkinson, R. J. Allcock and N. G. Laing (2014). "Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy." J Neurol Neurosurg Psychiatry. 85:1058–1060. [NCBI PubMed Entry]
  10. Marttila M, Hanif M, Lemola E, Nowak KJ, Laitila J, Grönholm M, Wallgren-Pettersson C, Pelin K (2014). "Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations." Skeletal Muscle, 4 :15. [Skeletal Muscle]
  11. Agrawal, P. B., C. R. Pierson, M. Joshi, X. Liu, G. Ravenscroft, B. Moghadaszadeh, T. Talabere, M. Viola, L. C. Swanson, G. Haliloglu, B. Talim, K. S. Yau, R. J. Allcock, N. G. Laing, M. A. Perrella and A. H. Beggs (2014). "SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy." Am J Hum Genet 95(2): 218-226. [NCBI PubMed Entry]
  12. Yuen, M., S. A. Sandaradura, J. J. Dowling, A. S. Kostyukova, N. Moroz, K. G. Quinlan, V. L. Lehtokari, G. Ravenscroft, E. J. Todd, O. Ceyhan-Birsoy, D. S. Gokhin, J. Maluenda, M. Lek, F. Nolent, C. T. Pappas, S. M. Novak, A. D'Amico, E. Malfatti, B. P. Thomas, S. B. Gabriel, N. Gupta, M. J. Daly, B. Ilkovski, P. J. Houweling, A. E. Davidson, L. C. Swanson, C. A. Brownstein, V. A. Gupta, L. Medne, P. Shannon, N. Martin, D. P. Bick, A. Flisberg, E. Holmberg, P. Van den Bergh, P. Lapunzina, L. B. Waddell, D. D. Sloboda, E. Bertini, D. Chitayat, W. R. Telfer, A. Laquerriere, C. C. Gregorio, C. A. Ottenheijm, C. G. Bonnemann, K. Pelin, A. H. Beggs, Y. K. Hayashi, N. B. Romero, N. G. Laing, I. Nishino, C. Wallgren-Pettersson, J. Melki, V. M. Fowler, D. G. MacArthur, K. N. North and N. F. Clarke (2014). "Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy." J Clin Invest 124(11): 4693-4708. [NCBI PubMed Entry]
  13. Lehtokari, V. L., K. Kiiski, S. A. Sandaradura, J. Laporte, P. Repo, J. A. Frey, K. Donner, M. Marttila, C. Saunders, P. G. Barth, J. T. den Dunnen, A. Beggs, N. F. Clarke, K. N. North, N. G. Laing, N. B. Romero, T. L. Winder, K. Pelin and C. Wallgren-Pettersson (2014). "Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies." Hum Mutat 35(12): 1418-1426. [NCBI PubMed Entry]

2013 publications

  1. Gaignard, P., M. Menezes, M. Schiff, A. Bayot, M. Rak, H. Ogier de Baulny, C. H. Su, M. Gilleron, A. Lombes, H. Abida, A. Tzagoloff, L. Riley, S. T. Cooper, K. Mina, P. Sivadorai, M. R. Davis, R. J. Allcock, N. Kresoje, N. G. Laing, D. R. Thorburn, A. Slama, J. Christodoulou and P. Rustin (2013). "Mutations in CYC1, Encoding Cytochrome c Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia." Am J Hum Genet 93(2): 384-389. [NCBI PubMed Entry]
  2. Ravenscroft, G., S. Miyatake, V. L. Lehtokari, E. J. Todd, P. Vornanen, K. S. Yau, Y. K. Hayashi, N. Miyake, Y. Tsurusaki, H. Doi, H. Saitsu, H. Osaka, S. Yamashita, T. Ohya, Y. Sakamoto, E. Koshimizu, S. Imamura, M. Yamashita, K. Ogata, M. Shiina, R. J. Bryson-Richardson, R. Vaz, O. Ceyhan, C. A. Brownstein, L. C. Swanson, S. Monnot, N. B. Romero, H. Amthor, N. Kresoje, P. Sivadorai, C. Kiraly-Borri, G. Haliloglu, B. Talim, D. Orhan, G. Kale, A. K. Charles, V. A. Fabian, M. R. Davis, M. Lammens, C. A. Sewry, A. Manzur, F. Muntoni, N. F. Clarke, K. N. North, E. Bertini, Y. Nevo, E. Willichowski, I. E. Silberg, H. Topaloglu, A. H. Beggs, R. J. Allcock, I. Nishino, C. Wallgren-Pettersson, N. Matsumoto and N. G. Laing (2013). "Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy." Am J Hum Genet 93(1): 6-18. [NCBI PubMed Entry]
  3. Ravenscroft, G., E. McNamara, L. M. Griffiths, J. M. Papadimitriou, E. C. Hardeman, A. J. Bakker, K. E. Davies, N. G. Laing and K. J. Nowak (2013). "Cardiac alpha-actin over-expression therapy in dominant ACTA1 disease." Hum Mol Genet 22(19): 3987-3997. [NCBI PubMed Entry]
  4. Gupta, V. A., G. Ravenscroft, R. Shaheen, E. J. Todd, L. C. Swanson, M. Shiina, K. Ogata, C. Hsu, N. F. Clarke, B. T. Darras, M. A. Farrar, A. Hashem, N. D. Manton, F. Muntoni, K. N. North, S. A. Sandaradura, I. Nishino, Y. K. Hayashi, C. A. Sewry, E. M. Thompson, K. S. Yau, C. A. Brownstein, T. W. Yu, R. J. Allcock, M. R. Davis, C. Wallgren-Pettersson, N. Matsumoto, F. S. Alkuraya, N. G. Laing and A. H. Beggs (2013). "Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy." Am J Hum Genet 93(6): 1108-1117. [NCBI PubMed Entry]
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