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Author

  • Nigel Laing

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)

A CMT family with AD and AR inheritance of a MME variant

Ravenscroft, G., Ong, R., Laing, N. & Lamont, P., Oct 2019, In : Neuromuscular Disorders. 29, p. S201-S201 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

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)

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

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
4 Citations (Scopus)
224 Downloads (Pure)

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 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)

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)
77 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)

ATP1A1 REPRESENTS A SIGNIFICANT NOVEL DOMINANT CMT2 GENE

Lassuthova, P., Rebelo, A., Ravenscroft, G., Lamont, P., Baxter, M., Ong, R., Davis, M., Manganelli, F., Tao, F., Saghira, C., Abreu, L., Bai, Y., Isom, D., Laing, N., B-O, C., Seeman, P., Shy, M., Santoro, L. & Zuchner, S., Sep 2017, In : Journal of the Peripheral Nervous System. 22, 3, p. 325-325 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

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
5 Citations (Scopus)
270 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
6 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
13 Citations (Scopus)

BIN1 founder mutation in the Spanish gypsy population is the most frequent cause of adult onset centronuclear myopathies in the south of Spain

Cabrera-Serrano, M., Rivas-Infante, E., Mavillard, F., Morar, B., Comas, D., Carvajal, A., Avila, R., Muelas, N., Olive, M., Diaz, J., Verges, E., Romero, N., Laporte, J., Vilchez, J., Laing, N., Kalaydjieva, L. & Paradas, C., Oct 2017, In : Neuromuscular Disorders. 27, p. S172-S173 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

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
17 Citations (Scopus)
292 Downloads (Pure)

Childhood-onset spinal muscular' atrophy or juvenile amyotrophic lateral sclerosis without pontocerebellar hypoplasia caused by a novel VRK1 splice variant

Sedghi, M., Moslemi, A., Olive, M., Etemadifar, M., Ansari, B., Nasiri, J., Emrahi, L., Mianesaz, H., Laing, N. & Tajsharghi, H., Oct 2019, In : Neuromuscular Disorders. 29, p. S148-S148 1 p., P.276.

Research output: Contribution to journalAbstract/Meeting Abstract

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

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: 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)

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)
188 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)
284 Downloads (Pure)

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

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
29 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. 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)
354 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)
125 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)

Diagnosis of fetal akinesia and arthrogryposis by panel sequencing and functional genomics

Ravenscroft, G., Clayton, J., Faiz, F., Milnes, D., Cincotta, R., Moon, P., McGrath, P., Colley, A., Chao, K., Laing, N. & Davis, M., Oct 2019, In : Neuromuscular Disorders. 29, p. S119-S119 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

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)

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

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)

Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy?

Oates, E., Yau, K., Jones, K., Smith, J., Cummings, B., Farrar, M., Cooper, S., Lek, M., Hoffman, E., Straub, V., Ferreiro, A., Udd, B., Beggs, A., Bonnemann, C., North, K., MacArthur, D., Granzier, H., Muntoni, F., Davis, M. & Laing, N., Oct 2017, In : Neuromuscular Disorders. 27, p. S237-S238 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

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

Efficacy of next-generation sequencing in molecular diagnosis of archived DNA samples

Beecroft, S., Ong, R., Yau, K., Duff, R., Allcock, R., Davis, M., Lamont, P. & Laing, N., Oct 2015, In : Neuromuscular Disorders. 25, p. S299-S300 2 p.

Research output: Contribution to journalAbstract/Meeting Abstract

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)

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

12 Citations (Scopus)

Explainer: what is pre-pregnancy carrier screening and should potential parents consider it?

Ravenscroft, G., Laing, N. & Ong, R., 14 Jul 2017, The Conversation.

Research output: Contribution to specialist publicationArticle

Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations

Saito, Y., Komaki, H., Hattori, A., Takeuchi, F., Sasaki, M., Kawabata, K., Mitsuhashi, S., Tominaga, K., Hayashi, Y. K., Nowak, K. J., Laing, N. G., Nonaka, I. & Nishino, I., 2011, In : Neuromuscular Disorders. 21, 7, p. 489-493

Research output: Contribution to journalArticle

5 Citations (Scopus)

Fetal akinesia: review of the genetics of the neuromuscular causes

Ravenscroft, G., Sollis, E., Charles, A. K., North, K. A., Baynam, G. & Laing, N., 2011, In : Journal of Medical Genetics. 48, p. 793-801

Research output: Contribution to journalArticle

40 Citations (Scopus)
Open Access
File
2 Citations (Scopus)
507 Downloads (Pure)