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Author

  • Nigel Laing
Review article

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

Cabrera-Serrano, M., Fabian, V. A., Boutilier, J., Wise, C., Faiz, F., Lamont, P. & Laing, N., Dec 2015, In : Clinical Genetics. 88, 6, p. 573–578

Research output: Contribution to journalReview article

Open Access
File
6 Citations (Scopus)
232 Downloads (Pure)

A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance

Ravenscroft, G., Wilmshurst, J. M., Pillay, K., Sivadori, P., Wallefeld, W., Nowak, K. & Laing, N., 2011, In : Neuromuscular Disorders. 21, p. 31-36

Research output: Contribution to journalReview article

17 Citations (Scopus)

Clinical utility gene card for: Laing distal myopathy

Lamont, P., Wallefeld, W., Davis, M., Udd, B. & Laing, N., 2011, In : European Journal of Human Genetics. 8 December 2010, p. 3 pages

Research output: Contribution to journalReview article

2 Citations (Scopus)

Genetics of neuromuscular fetal akinesia in the genomics era

Beecroft, S. J., Lombard, M., Mowat, D., McLean, C., Cairns, A., Davis, M., Laing, N. G. & Ravenscroft, G., 1 Aug 2018, In : Journal of Medical Genetics. 55, 8, p. 505-514 10 p.

Research output: Contribution to journalReview article

10 Citations (Scopus)

International perspectives on the implementation of reproductive carrier screening

Delatycki, M. B., Alkuraya, F., Archibald, A., Castellani, C., Cornel, M., Grody, W. W., Henneman, L., Ioannides, A. S., Kirk, E., Laing, N., Lucassen, A., Massie, J., Schuurmans, J., Thong, M-K., van Langen, I. & Zlotogora, J., 29 Nov 2019, In : Prenatal Diagnosis. 10 p.

Research output: Contribution to journalReview article

2 Citations (Scopus)

Nemaline Myopathy with Stiffness and Hypertonia associated with an ACTA1 Mutation

Jain, R. K., Jayawant, S., Squier, W., Muntoni, F., Sewry, C. A., Manzur, A., Quinlivan, R., Lillis, S., Jungbluth, H., Sparrow, J. C., Ravenscroft, G., Nowak, K., Memo, M., Marston, S. B. & Laing, N., 2012, In : Neurology. 78, p. 1100-1103

Research output: Contribution to journalReview article

30 Citations (Scopus)

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

Ravenscroft, G., Davis, M. R., Lamont, P., Forrest, A. & Laing, N. G., Apr 2017, In : Seminars in Cell and Developmental Biology. 64, p. 160-170 11 p.

Research output: Contribution to journalReview article

12 Citations (Scopus)

Skeletal muscle α-actin diseases (actinopathies): Pathology and mechanisms

Nowak, K., Ravenscroft, G. & Laing, N., 2013, In : Acta Neuropathologica. 125, 1, p. 19-32

Research output: Contribution to journalReview article

Open Access
File
62 Citations (Scopus)
468 Downloads (Pure)
Other chapter contribution

Kelch Proteins

Yau, K., Olivé, M., Lamont, P. & Laing, N., 2013, MUSCLE DISEASE Pathology and Genetics. Grobel, H. H., Sewry, C. A. & Weller, R. O. (eds.). Second Edition ed. United Kingdom: John Wiley & Sons, p. 375

Research output: Chapter in Book/Conference paperOther chapter contribution

Letter

Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1

Barnett, C. P., Todd, E. J., Ong, R., Davis, M. R., Atkinson, V., Allcock, R., Laing, N. & Ravenscroft, G., 2014, In : American Journal of Medical Genetics, Part A. 164, 7, p. 1846-1849

Research output: Contribution to journalLetter

9 Citations (Scopus)

Novel cofilin-2 (CFL2) four base pair deletion causing nemaline myopathy

Ong, R., Alsaman, A. S., Selcen, D., Arabshahi, A., Yau, K., Ravenscroft, G., Duff, R., Atkinson, V., Allcock, R. & Laing, N., 2014, In : Journal of Neurology, Neurosurgery and Psychiatry. 85, 9, p. 1058-1060

Research output: Contribution to journalLetter

11 Citations (Scopus)

Novel MYH7 mutation associated with mild myopathy but life-threatening ventricular arrhythmias and noncompaction

Finsterer, J. H., Stöllberger, C., Brandau, O., Laccone, F. A., Bichler, K. & Laing, N., 2014, In : International Journal of Cardiology. 173, 3, p. 532-535

Research output: Contribution to journalLetter

12 Citations (Scopus)
Editorial

Expanded reproductive carrier screening-how can we do the most good and cause the least harm?

Delatycki, M. B., Laing, N. & Kirk, E., May 2019, In : European Journal of Human Genetics. 27, 5, p. 669-670 2 p.

Research output: Contribution to journalEditorial

2 Citations (Scopus)
Conference paper

Adult onset distal and proximal myopathy with complete ophthalmoplegia and bulbar involvement due to de novo mutation in MYH2

Cabrera, M., Junckerstorff, R., Lamont, P. & Laing, N., 2014, 19th Congress of the World Muscle Society. United Kingdom: Elsevier, Vol. 24. p. 796-797

Research output: Chapter in Book/Conference paperConference paper

Clinical and genetic characterization of distal myopathies

Cabrera, M., Junckerstorff, R., Needham, M., Lamont, P. & Laing, N., 2014, 19th Congress of the World Muscle Society. United Kingdom: Elsevier, Vol. 24. p. 810

Research output: Chapter in Book/Conference paperConference paper

Comment/debate

What is the role for preconception carrier screening in neurology?

Laing, N., 2016, In : Advances in Clinical Neuroscience and Rehabilitation. 16, 1, p. 5-6 2 p.

Research output: Contribution to journalComment/debate

Open Access
Chapter

Congenital/ultrastructural myopathies

Ravenscroft, G., Clarke, N. F. & Laing, N., 2014, Oxford Textbook of Neuromuscular Disorders. Hilton-Jones, D. & Turner, M. R. (eds.). First ed. United Kingdom: Oxford University Press, p. 277-287

Research output: Chapter in Book/Conference paperChapter

Distal Myopathies

Lamont, P. J. & Laing, N. G., 2016, International Neurology. R. P. L. D. D. T. W. M. C. R. B. (ed.). 2nd ed. United States: John Wiley & Sons, p. 494-496 3 p.

Research output: Chapter in Book/Conference paperChapter

Genetics of Muscle Disease

Nowak, K., Lamont, P. & Laing, N., 2013, MUSCLE DISEASE Pathology and Genetics. Weller, R. O. (ed.). Second Edition ed. United Kingdom: John Wiley & Sons, p. 375

Research output: Chapter in Book/Conference paperChapter

2 Citations (Scopus)

Improved diagnosis and care for rare diseases through implementation of precision public health framework

Baynam, G., Bowman, F., Lister, K., Walker, C. E., Pachter, N., Goldblatt, J., Boycott, K. M., Gahl, W. A., 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. & 39 others, Verhoef, H., Groza, T., Zankl, A., Robinson, P. N., Haendel, M., Brudno, M., Mattick, J. S., Dinger, M. E., Roscioli, T., Cowley, M. J., Olry, A., Hanauer, M., Alkuraya, F. S., 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, N. G., Julkowska, D., Le Cam, Y., Terry, S. F., Kaufmann, P., Eerola, I., Norstedt, I., Rath, A., Suematsu, M., Groft, S. C., Austin, C. P., Draghia-Akli, R., Weeramanthri, T. S., Molster, C. & Dawkins, H. J. S., 2017, Rare Diseases Epidemiology: Update and Overview. Posada de la Paz, M., Taruscio, D. & Groft, S. C. (eds.). 2nd ed. Switzerland: Springer, p. 55-94 40 p. (Advances in Experimental Medicine and Biology; vol. 1031).

Research output: Chapter in Book/Conference paperChapter

8 Citations (Scopus)
Article

Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy

Martilla, M., Lemola, E., Wallefeld, W., Memo, M., Donner, K., Laing, N., Marston, S., Grönholm, M. & Wallgren-Pettersen, C., 2012, In : Biochemical Journal. 442, p. 231-239

Research output: Contribution to journalArticle

Open Access
35 Citations (Scopus)

Actin nemaline myopathy mouse reproduces disease, suggests other Actin Disease phenotypes and provides cautionary note on muscle transgene expression

Ravenscroft, G., Jackaman, C., Sewry, CA., Mcnamara, E., Squire, SE., Potter, AC., Papadimitriou, J., Griffiths, LM., Bakker, T., Davies, K., Laing, N. & Nowak, K., 2011, In : PLoS One. 6, 12, p. 1-13

Research output: Contribution to journalArticle

Open Access
21 Citations (Scopus)

A Germline MTOR Mutation in Aboriginal Australian Siblings with Intellectual Disability, Dysmorphism, Macrocephaly, and Small Thoraces

Baynam, G., Overkov, A., Davis, M., Mina, K., Schofield, L., Allcock, R., Laing, N., Cook, M., Dawkins, H. & Goldblatt, J., 2015, In : American Journal of Medical Genetics, Part A. 167, 7, p. 1659-1667

Research output: Contribution to journalArticle

20 Citations (Scopus)

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

Servián-Morilla, E., Cabrera-Serrano, M., Rivas-Infante, E., Carvajal, A., Lamont, P. J., Pelayo-Negro, A. L., Ravenscroft, G., Junckerstorff, R., Dyke, J. M., Fletcher, S., Adams, A. M., Mavillard, F., Fernández-García, M. A., Nieto-González, J. L., Laing, N. G. & Paradas, C., 1 Mar 2019, In : Acta Neuropathologica Communications. 7, 1, 1 p.

Research output: Contribution to journalArticle

Open Access

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

Clarke, N. F., Amburgey, K., Teener, J., Camelo-Piragua, S., Kesari, A., Punetha, J., Waddell, L. B., Davis, M., Laing, N., Monnier, N., North, K. N., Hoffman, E. P. & Dowling, J. J., 2013, In : Neuromuscular Disorders. 23, 5, p. 432-436

Research output: Contribution to journalArticle

25 Citations (Scopus)

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain

Carbonell-Corvillo, P., Tristán-Clavijo, E., Cabrera-Serrano, M., Servián-Morilla, E., García-Martín, G., Villarreal-Pérez, L., Rivas-Infante, E., Area-Gómez, E., Chamorro-Muñoz, M. I., Gil-Gálvez, A., Miranda-Vizuete, A., Martinez-Mir, A., Laing, N. & Paradas, C., 1 Oct 2018, In : Neuromuscular Disorders. 28, 10, p. 828-836 9 p.

Research output: Contribution to journalArticle

Open Access
File
1 Citation (Scopus)
85 Downloads (Pure)

Approach to the diagnosis of congenital myopathies

North, K. N., Wang, C. H., Clarke, N. F., Jungbluth, H., Vainzof, M., Dowling, J. J., Amburgey, K., Quijano-Roy, S., Beggs, A. H., Sewry, C. A., Laing, N., Bönnemann, C. G., Aloysius, A., Apkon, S. D., Bellini, J., Bertini, E., Biancalana, V. V., Birnkrant, D. J., Bushby, K. M. D., Connolly, A. M. & 39 others, Estournet-Mathiaud, B., Ferreiro, A., Fitzgerald, D. A., Florence, J. M., Richard Gee, P. T., Giannetti, J. G., Glanzman, A. M., Goebel, H. H., Guillet, M., Hofmeister, B., Labeit, S., Laporte, J., Little, D., Kemp, J., Koumbourlis, A. C., Main, M., Matthews, D., Morrison, L. A., Munns, C. F. J., Muntoni, F. M., Navarro, C. A., Panitch, H., Pelin, K., Rose, K. J., Santiago, M. T., Schroth, M. K., Sejersen, T., Simonds, A. K., Da Silva, A. H. C., Rinsky, L. A., Roméro, N. B., Schochet, P., Schüler, P. M., Shapiro, F. D., Storhaug, K., Wallgren-Pettersson, C., Wallis, C., Weiss, H. & Yuan, N., 2014, In : Neuromuscular Disorders. 24, 2, p. 97-116

Research output: Contribution to journalArticle

Open Access
145 Citations (Scopus)

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant

Sedghi, M., Salari, M., Moslemi, A. R., Kariminejad, A., Davis, M., Goullée, H., Olsson, B., Laing, N. & Tajsharghi, H., 1 Dec 2018, In : Neurology: Genetics. 4, 6, e295.

Research output: Contribution to journalArticle

Open Access
1 Citation (Scopus)

Bi-allelic mutations in MYL1 cause a severe congenital myopathy

Ravenscroft, G., Zaharieva, I. T., Bortolotti, C. A., Lambrughi, M., Pignataro, M., Borsari, M., Sewry, C. A., Phadke, R., Haliloglu, G., Ong, R., Goullée, H., Whyte, T., Consortium, U. K., Manzur, A., Talim, B., Kaya, U., Osborn, D. P. S., Forrest, A. R. R., Laing, N. G. & Muntoni, F., 15 Dec 2018, In : Human Molecular Genetics. 27, 24, p. 4263-4272 10 p.

Research output: Contribution to journalArticle

Open Access
File
6 Citations (Scopus)
283 Downloads (Pure)

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence

Bonnin, E., Cabochette, P., Filosa, A., Jühlen, R., Komatsuzaki, S., Hezwani, M., Dickmanns, A., Martinelli, V., Vermeersch, M., Supply, L., Martins, N., Pirenne, L., Ravenscroft, G., Lombard, M., Port, S., Spillner, C., Janssens, S., Roets, E., Van Dorpe, J., Lammens, M. & 6 others, Kehlenbach, R. H., Ficner, R., Laing, N. G., Hoffmann, K., Vanhollebeke, B. & Fahrenkrog, B., 1 Dec 2018, In : PLoS Genetics. 14, 12, e1007845.

Research output: Contribution to journalArticle

Open Access
7 Citations (Scopus)

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

Guimier, A., Gordon, C. T., Godard, F., Ravenscroft, G., Oufadem, M., Vasnier, C., Rambaud, C., Nitschke, P., Bole-Feysot, C., Masson, C., Dauger, S., Longman, C., Laing, N. G., Kugener, B., Bonnet, D., Bouvagnet, P., Di Filippo, S., Probst, V., Redon, R., Charron, P. & 7 others, Rötig, A., Lyonnet, S., Dautant, A., De Pontual, L., Di Rago, J-P., Delahodde, A. & Amiel, J., 1 Sep 2016, In : American Journal of Human Genetics. 99, 3, p. 666-673

Research output: Contribution to journalArticle

Open Access
14 Citations (Scopus)

Cardiac α-actin over-expression therapy in dominant ACTA1 disease

Ravenscroft, G., Mcnamara, E., Griffiths, L. M., Papadimitriou, J., Hardeman, E. C., Bakker, T., Davies, K. E., Laing, N. & Nowak, K., 2013, In : Human Molecular Genetics. 22, 19, p. 3987-3997

Research output: Contribution to journalArticle

13 Citations (Scopus)

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

Siciliani Scalco, R., Gardiner, A. R., Pitceathly, R. D. S., Hilton-Jones, D., Schapira, A. H., Turner, C., Parton, M., Desikan, M., Barresi, R., Marsh, J., Manzur, A. Y., Childs, A-M., Feng, L., Murphy, E., Lamont, P. J., Ravenscroft, G., Wallefeld, W., Davis, M. R., Laing, N. G., Holton, J. L. & 7 others, Fiahlo, D., Bushby, K., Hanna, M. G., Phadke, R., Jungbluth, H., Houlden, H. & Quinlivan, R., Aug 2016, In : Neuromuscular Disorders. 26, 8, p. 504-510

Research output: Contribution to journalArticle

Open Access
File
18 Citations (Scopus)
306 Downloads (Pure)

Clinical Utility Gene Card for: Becker muscular dystrophy

Coote, D., Davis, M. R., Cabrera, M., Needham, M., Laing, N. G. & Nowak, K. J., 21 Feb 2018, In : European Journal of Human Genetics. p. 1-7 7 p.

Research output: Contribution to journalArticle

Clinical utility gene card for: Nemaline myopathy

Nowak, K., Davis, M. R., Wallgren-Pettersson, C., Lamont, P. J. & Laing, N., 2012, In : European Journal of Human Genetics. 20, p. 4pp

Research output: Contribution to journalArticle

Open Access
4 Citations (Scopus)

Clinical utility gene card for: Nemaline myopathy - update 2015

Nowak, K., Davis, M. R., Wallgren-Pettersson, C., Lamont, P. J. & Laing, N., Nov 2015, In : European Journal of Human Genetics. 23, 11, p. e1-e5 5 p.

Research output: Contribution to journalArticle

Open Access
File
8 Citations (Scopus)
193 Downloads (Pure)

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

Coote, D. J., Davis, M. R., Cabrera, M., Needham, M., Laing, N. G. & Nowak, K. J., 1 Jul 2018, In : European Journal of Human Genetics. 26, 7, p. 1072-1077 6 p.

Research output: Contribution to journalArticle

Open Access

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

Reis, G. F., De La Motte, G., Gooding, R., Laing, N. & Margeta, M., Dec 2015, In : Neuropathology. 35, 6, p. 575-581

Research output: Contribution to journalArticle

Open Access
File
1 Citation (Scopus)
287 Downloads (Pure)

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Oates, E. C., Jones, K. J., Donkervoort, S., Charlton, A., Brammah, S., Smith, J. E., Ware, J. S., Yau, K. S., Swanson, L. C., Whiffin, N., Peduto, A. J., Bournazos, A., Waddell, L. B., Farrar, M. A., Sampaio, H. A., Teoh, H. L., Lamont, P. J., Mowat, D., Fitzsimons, R. B., Corbett, A. J. & 64 others, Ryan, M. M., O'Grady, G. L., Sandaradura, S. A., Ghaoui, R., Joshi, H., Marshall, J. L., Nolan, M. A., Kaur, S., Punetha, J., Toepf, A., Harris, E., Bakshi, M., Genetti, C. A., Marttila, M., Werlauff, U., Streichenberger, N., Pestronk, A., Mazanti, I., Pinner, J. R., Vuillerot, C., Grosmann, C., Camacho, A., Mohassel, P., Leach, M. E., Foley, A. R., Bharucha-Goebel, D., Collins, J., Connolly, A. M., Gilbreath, H. R., Iannaccone, S. T., Castro, D., Cummings, B. B., Webster, R. I., Lazaro, L., Vissing, J., Coppens, S., Deconinck, N., Luk, H-M., Thomas, N. H., Foulds, N. C., Illingworth, M. A., Ellard, S., McLean, C. A., Phadke, R., Ravenscroft, G., Witting, N., Hackman, P., Richard, I., Cooper, S. T., Kamsteeg, E-J., Hoffman, E. P., Bushby, K., Straub, V., Udd, B., Ferreiro, A., North, K. N., Clarke, N. F., Lek, M., Beggs, A. H., Boennemann, C. G., MacArthur, D. G., Granzier, H., Davis, M. R. & Laing, N. G., Jun 2018, In : Annals of Neurology. 83, 6, p. 1105-1124 20 p.

Research output: Contribution to journalArticle

Open Access
22 Citations (Scopus)

Consensus Statement on Standard of Care for Congenital Myopathies

Wang, C. H., Dowling, J. J., North, K., Schroth, M. K., Sejersen, T., Shapiro, F., Bellini, J., Weiss, H., Guillet, M., Amburgey, K., Apkon, S., Bertini, E., Bonnemann, C., Clarke, N., Connolly, A. M., Estournet-Mathiaud, B., Fitzgerald, D., Florence, J. M., Gee, R., Gurgel-Giannetti, J. & 14 others, Glanzman, A. M., Hofmeister, B., Jungbluth, H., Koumbourlis, A. C., Laing, N., Main, M., Morrison, L. A., Munns, C., Rose, K., Schuler, P. M., Sewry, C., Storhaug, K., Vainzof, M. & Yuan, N., 2012, In : Journal of Child Neurology. 27, p. 363-382

Research output: Contribution to journalArticle

76 Citations (Scopus)

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

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. & O'Grady, G. L., 2017, In : Genome Medicine. 2

Research output: Contribution to journalArticle

Open Access
30 Citations (Scopus)

CUGC for Duchenne muscular dystrophy (DMD)

Coote, D. J., Davis, M. R., Cabrera, M., Needham, M., Laing, N. G. & Nowak, K. J., 12 Jan 2018, In : European Journal of Human Genetics. 26, 5, p. 1-9 9 p.

Research output: Contribution to journalArticle

Cylindrical spirals in two families: Clinical and genetic investigations

Beecroft, S. J., Olive, M., Quereda, L. G., Gallano, P., Ojanguren, I., McLean, C., McCombe, P., Laing, N. G. & Ravenscroft, G., Feb 2020, In : Neuromuscular Disorders. 30, 2, p. 151-158 8 p.

Research output: Contribution to journalArticle

Cystinosis distal myopathy, novel clinical, pathological and genetic features

Cabrera, M., Junckerstorff, R. C., Alisheri, A., Pestronk, A., Laing, N. G., Weihl, C. C. & Lamont, P. J., Sep 2017, In : Neuromuscular Disorders. 27, 9, p. 873-878

Research output: Contribution to journalArticle

Open Access
File
2 Citations (Scopus)
367 Downloads (Pure)

Dejerine–Sottas disease in childhood—Genetic and sonographic heterogeneity

Hobbelink, S. M. R., Brockley, C. R., Kennedy, R. A., Carroll, K., de Valle, K., Rao, P., Davis, M. R., Laing, N. G., Voermans, N. C., Ryan, M. M. & Yiu, E. M., 1 Apr 2018, In : Brain and Behavior. 8, 4, e00919.

Research output: Contribution to journalArticle

Open Access
File
2 Citations (Scopus)
129 Downloads (Pure)

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

O'Grady, G. L., Lek, M., Lamande, S. R., Waddell, L., Oates, E. C., Punetha, J., Ghaoui, R., Sandaradura, S. A., Best, H., Kaur, S., Davis, M., Laing, N. G., Muntoni, F., Hoffman, E., Macarthur, D. G., Clarke, N. F., Cooper, S. & North, K., 7 Jul 2016, In : Annals of Neurology. 80, 1, p. 101-111 11 p.

Research output: Contribution to journalArticle

20 Citations (Scopus)

Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation

Finsterer, J. H., Brandau, O., Stöllberger, C., Wallefeld, W., Laing, N. & Laccone, F. A., 2014, In : Neuromuscular Disorders. 24, 8, p. 721-725

Research output: Contribution to journalArticle

10 Citations (Scopus)

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

Lee, R. G., Sedghi, M., Salari, M., Shearwood, A-M. J., Stentenbach, M., Kariminejad, A., Goullee, H., Rackham, O., Laing, N. G., Tajsharghi, H. & Filipovska, A., Oct 2018, In : Neurology: Genetics. 4, 5, 10 p., 276.

Research output: Contribution to journalArticle

Open Access

Expanding the phenotype of GMPPB mutations

Cabrera-Serrano, M., Ghaoui, R., Ravenscroft, G., Johnsen, R. D., Davis, M. R., Corbett, A., Reddel, S., Sue, C. M., Liang, C., Waddell, L. B., Kaur, S., Lek, M., North, K. N., Macarthur, D. G., Lamont, P., Clarke, N. F. & Laing, N., Apr 2015, In : Brain. 138, 4, p. 836-844

Research output: Contribution to journalArticle

34 Citations (Scopus)

Expanding the phenotypic spectrum associated with mutations of DYNC1H1

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. & Ravenscroft, G., Jul 2017, In : Neuromuscular Disorders. 27, 7, p. 607-615

Research output: Contribution to journalArticle

13 Citations (Scopus)