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Items: 1 to 50 of 243

1.

A "human knockout" model to investigate the influence of the α-actinin-3 protein on exercise-induced mitochondrial adaptations.

Papadimitriou ID, Eynon N, Yan X, Munson F, Jacques M, Kuang J, Voisin S, North KN, Bishop DJ.

Sci Rep. 2019 Sep 3;9(1):12688. doi: 10.1038/s41598-019-49042-y.

2.

Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.

Stark Z, Boughtwood T, Phillips P, Christodoulou J, Hansen DP, Braithwaite J, Newson AJ, Gaff CL, Sinclair AH, North KN.

Am J Hum Genet. 2019 Jul 3;105(1):7-14. doi: 10.1016/j.ajhg.2019.06.003.

3.

A transformative translational change programme to introduce genomics into healthcare: a complexity and implementation science study protocol.

Taylor N, Best S, Martyn M, Long JC, North KN, Braithwaite J, Gaff C.

BMJ Open. 2019 Mar 5;9(3):e024681. doi: 10.1136/bmjopen-2018-024681.

4.

Integrating Genomics into Healthcare: A Global Responsibility.

Stark Z, Dolman L, Manolio TA, Ozenberger B, Hill SL, Caulfied MJ, Levy Y, Glazer D, Wilson J, Lawler M, Boughtwood T, Braithwaite J, Goodhand P, Birney E, North KN.

Am J Hum Genet. 2019 Jan 3;104(1):13-20. doi: 10.1016/j.ajhg.2018.11.014.

5.

Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease.

Houweling PJ, Papadimitriou ID, Seto JT, Pérez LM, Coso JD, North KN, Lucia A, Eynon N.

Hum Mutat. 2018 Dec;39(12):1774-1787. doi: 10.1002/humu.23663. Epub 2018 Nov 8. Review.

PMID:
30281865
6.

Effects of methylphenidate on cognition and behaviour in children with neurofibromatosis type 1: a study protocol for a randomised placebo-controlled crossover trial.

Pride NA, Barton B, Hutchins P, Coghill DR, Korgaonkar MS, Hearps SJC, Rouel M, Malarbi S, North KN, Payne JM.

BMJ Open. 2018 Aug 30;8(8):e021800. doi: 10.1136/bmjopen-2018-021800.

7.

Social Function and Autism Spectrum Disorder in Children and Adults with Neurofibromatosis Type 1: a Systematic Review and Meta-Analysis.

Chisholm AK, Anderson VA, Pride NA, Malarbi S, North KN, Payne JM.

Neuropsychol Rev. 2018 Sep;28(3):317-340. doi: 10.1007/s11065-018-9380-x. Epub 2018 Aug 11.

PMID:
30097761
8.

Attention to faces in social context in children with neurofibromatosis type 1.

Lewis AK, Porter MA, Williams TA, Bzishvili S, North KN, Payne JM.

Dev Med Child Neurol. 2019 Feb;61(2):174-180. doi: 10.1111/dmcn.13928. Epub 2018 Jun 5.

PMID:
29873078
9.

The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance.

Garton FC, Houweling PJ, Vukcevic D, Meehan LR, Lee FXZ, Lek M, Roeszler KN, Hogarth MW, Tiong CF, Zannino D, Yang N, Leslie S, Gregorevic P, Head SI, Seto JT, North KN.

Am J Hum Genet. 2018 May 3;102(5):845-857. doi: 10.1016/j.ajhg.2018.03.009. Epub 2018 Apr 26.

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.

11.

Preliteracy impairments in children with neurofibromatosis type 1.

Arnold SS, Payne JM, Lorenzo J, North KN, Barton B.

Dev Med Child Neurol. 2018 Jul;60(7):703-710. doi: 10.1111/dmcn.13768. Epub 2018 Apr 18.

12.

Branched fibers from old fast-twitch dystrophic muscles are the sites of terminal damage in muscular dystrophy.

Kiriaev L, Kueh S, Morley JW, North KN, Houweling PJ, Head SI.

Am J Physiol Cell Physiol. 2018 Jun 1;314(6):C662-C674. doi: 10.1152/ajpcell.00161.2017. Epub 2018 Feb 7.

13.

Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness.

Willems SM, Wright DJ, Day FR, Trajanoska K, Joshi PK, Morris JA, Matteini AM, Garton FC, Grarup N, Oskolkov N, Thalamuthu A, Mangino M, Liu J, Demirkan A, Lek M, Xu L, Wang G, Oldmeadow C, Gaulton KJ, Lotta LA, Miyamoto-Mikami E, Rivas MA, White T, Loh PR, Aadahl M, Amin N, Attia JR, Austin K, Benyamin B, Brage S, Cheng YC, Cięszczyk P, Derave W, Eriksson KF, Eynon N, Linneberg A, Lucia A, Massidda M, Mitchell BD, Miyachi M, Murakami H, Padmanabhan S, Pandey A, Papadimitriou I, Rajpal DK, Sale C, Schnurr TM, Sessa F, Shrine N, Tobin MD, Varley I, Wain LV, Wray NR, Lindgren CM, MacArthur DG, Waterworth DM, McCarthy MI, Pedersen O, Khaw KT, Kiel DP; GEFOS Any-Type of Fracture Consortium, Pitsiladis Y, Fuku N, Franks PW, North KN, van Duijn CM, Mather KA, Hansen T, Hansson O, Spector T, Murabito JM, Richards JB, Rivadeneira F, Langenberg C, Perry JRB, Wareham NJ, Scott RA.

Nat Commun. 2017 Jul 12;8:16015. doi: 10.1038/ncomms16015.

14.

No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes.

Papadimitriou ID, Lockey SJ, Voisin S, Herbert AJ, Garton F, Houweling PJ, Cieszczyk P, Maciejewska-Skrendo A, Sawczuk M, Massidda M, Calò CM, Astratenkova IV, Kouvatsi A, Druzhevskaya AM, Jacques M, Ahmetov II, Stebbings GK, Heffernan S, Day SH, Erskine R, Pedlar C, Kipps C, North KN, Williams AG, Eynon N.

BMC Genomics. 2018 Jan 3;19(1):13. doi: 10.1186/s12864-017-4412-0.

15.

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.

16.

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.

17.

The kids are OK: it is discrimination not same-sex parents that harms children.

Knight KW, Stephenson SE, West S, Delatycki MB, Jones CA, Little MH, Patton GC, Sawyer SM, Skinner SR, Telfer MM, Wake M, North KN, Oberklaid F.

Med J Aust. 2017 Nov 6;207(9):374-375. No abstract available.

PMID:
29092695
18.

The neural basis of deficient response inhibition in children with neurofibromatosis type 1: Evidence from a functional MRI study.

Pride NA, Korgaonkar MS, North KN, Barton B, Payne JM.

Cortex. 2017 Aug;93:1-11. doi: 10.1016/j.cortex.2017.04.022. Epub 2017 May 6.

PMID:
28554066
19.

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.

20.

Atypical Local Interference Affects Global Processing in Children with Neurofibromatosis Type 1.

Payne JM, Porter MA, Bzishvili S, North KN.

J Int Neuropsychol Soc. 2017 May;23(5):446-450. doi: 10.1017/S1355617717000224. Epub 2017 Apr 11.

PMID:
28397617
21.

Impaired engagement of the ventral attention system in neurofibromatosis type 1.

Pride NA, Korgaonkar MS, North KN, Payne JM.

Brain Imaging Behav. 2018 Apr;12(2):499-508. doi: 10.1007/s11682-017-9717-8.

PMID:
28364401
22.

Facial emotion recognition, face scan paths, and face perception in children with neurofibromatosis type 1.

Lewis AK, Porter MA, Williams TA, Bzishvili S, North KN, Payne JM.

Neuropsychology. 2017 May;31(4):361-370. doi: 10.1037/neu0000340. Epub 2017 Mar 20.

PMID:
28318281
23.

Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans.

Houweling PJ, Berman YD, Turner N, Quinlan KGR, Seto JT, Yang N, Lek M, Macarthur DG, Cooney G, North KN.

Int J Obes (Lond). 2017 Jul;41(7):1154-1157. doi: 10.1038/ijo.2017.72. Epub 2017 Mar 15.

24.

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy.

Hogarth MW, Houweling PJ, Thomas KC, Gordish-Dressman H, Bello L; Cooperative International Neuromuscular Research Group (CINRG), Pegoraro E, Hoffman EP, Head SI, North KN.

Nat Commun. 2017 Jan 31;8:14143. doi: 10.1038/ncomms14143.

25.

Randomized placebo-controlled study of lovastatin in children with neurofibromatosis type 1.

Payne JM, Barton B, Ullrich NJ, Cantor A, Hearps SJ, Cutter G, Rosser T, Walsh KS, Gioia GA, Wolters PL, Tonsgard J, Schorry E, Viskochil D, Klesse L, Fisher M, Gutmann DH, Silva AJ, Hunter SJ, Rey-Casserly C, Cantor NL, Byars AW, Stavinoha PL, Ackerson JD, Armstrong CL, Isenberg J, O'Neil SH, Packer RJ, Korf B, Acosta MT, North KN; NF Clinical Trials Consortium.

Neurology. 2016 Dec 13;87(24):2575-2584. Epub 2016 Nov 9.

26.

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

Punetha J, Kesari A, Uapinyoying P, Giri M, Clarke NF, Waddell LB, North KN, Ghaoui R, O'Grady GL, Oates EC, Sandaradura SA, Bönnemann CG, Donkervoort S, Plotz PH, Smith EC, Tesi-Rocha C, Bertorini TE, Tarnopolsky MA, Reitter B, Hausmanowa-Petrusewicz I, Hoffman EP.

J Neuromuscul Dis. 2016 May 27;3(2):209-225.

PMID:
27854218
27.

Can in-the-moment diary methods measure health-related quality of life in Duchenne muscular dystrophy?

Bray P, Bundy AC, Ryan MM, North KN.

Qual Life Res. 2017 May;26(5):1145-1152. doi: 10.1007/s11136-016-1442-z. Epub 2016 Nov 3.

PMID:
27812849
28.

Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1: A Study of the International NF1-ASD Consortium Team (INFACT).

Morris SM, Acosta MT, Garg S, Green J, Huson S, Legius E, North KN, Payne JM, Plasschaert E, Frazier TW, Weiss LA, Zhang Y, Gutmann DH, Constantino JN.

JAMA Psychiatry. 2016 Dec 1;73(12):1276-1284. doi: 10.1001/jamapsychiatry.2016.2600.

29.

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.

30.

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

O'Grady GL, Verschuuren C, Yuen M, Webster R, Menezes M, Fock JM, Pride N, Best HA, Benavides Damm T, Turner C, Lek M, Engel AG, North KN, Clarke NF, MacArthur DG, Kamsteeg EJ, Cooper ST.

Neurology. 2016 Oct 4;87(14):1442-1448. Epub 2016 Sep 2.

31.

Phonics Training Improves Reading in Children with Neurofibromatosis Type 1: A Prospective Intervention Trial.

Arnold SS, Barton B, McArthur G, North KN, Payne JM.

J Pediatr. 2016 Oct;177:219-226.e2. doi: 10.1016/j.jpeds.2016.06.037. Epub 2016 Jul 29.

PMID:
27480199
32.

TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.

Ghaoui R, Benavides T, Lek M, Waddell LB, Kaur S, North KN, MacArthur DG, Clarke NF, Cooper ST.

Neuromuscul Disord. 2016 Aug;26(8):500-3. doi: 10.1016/j.nmd.2016.05.013. Epub 2016 May 24.

PMID:
27342937
33.

The Future of Genomic Research in Athletic Performance and Adaptation to Training.

Wang G, Tanaka M, Eynon N, North KN, Williams AG, Collins M, Moran CN, Britton SL, Fuku N, Ashley EA, Klissouras V, Lucia A, Ahmetov II, de Geus E, Alsayrafi M, Pitsiladis YP.

Med Sport Sci. 2016;61:55-67. doi: 10.1159/000445241. Epub 2016 Jun 10. Review.

PMID:
27287077
34.

ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study.

Papadimitriou ID, Lucia A, Pitsiladis YP, Pushkarev VP, Dyatlov DA, Orekhov EF, Artioli GG, Guilherme JP, Lancha AH Jr, Ginevičienė V, Cieszczyk P, Maciejewska-Karlowska A, Sawczuk M, Muniesa CA, Kouvatsi A, Massidda M, Calò CM, Garton F, Houweling PJ, Wang G, Austin K, Druzhevskaya AM, Astratenkova IV, Ahmetov II, Bishop DJ, North KN, Eynon N.

BMC Genomics. 2016 Apr 13;17:285. doi: 10.1186/s12864-016-2462-3.

35.

No Evidence of a Common DNA Variant Profile Specific to World Class Endurance Athletes.

Rankinen T, Fuku N, Wolfarth B, Wang G, Sarzynski MA, Alexeev DG, Ahmetov II, Boulay MR, Cieszczyk P, Eynon N, Filipenko ML, Garton FC, Generozov EV, Govorun VM, Houweling PJ, Kawahara T, Kostryukova ES, Kulemin NA, Larin AK, Maciejewska-Karłowska A, Miyachi M, Muniesa CA, Murakami H, Ospanova EA, Padmanabhan S, Pavlenko AV, Pyankova ON, Santiago C, Sawczuk M, Scott RA, Uyba VV, Yvert T, Perusse L, Ghosh S, Rauramaa R, North KN, Lucia A, Pitsiladis Y, Bouchard C.

PLoS One. 2016 Jan 29;11(1):e0147330. doi: 10.1371/journal.pone.0147330. eCollection 2016.

36.

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.

O'Grady GL, Ma A, Sival D, Wong MT, Peduto T, Menezes MP, Young H, Waddell L, Ghaoui R, Needham M, Lek M, North KN, MacArthur DG, van Ravenswaaij-Arts CM, Clarke NF.

Eur J Hum Genet. 2016 Aug;24(8):1216-9. doi: 10.1038/ejhg.2015.276. Epub 2016 Jan 27.

37.

How does α-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed'.

Lee FX, Houweling PJ, North KN, Quinlan KG.

Biochim Biophys Acta. 2016 Apr;1863(4):686-93. doi: 10.1016/j.bbamcr.2016.01.013. Epub 2016 Jan 21. Review.

38.

Lack of MG53 in human heart precludes utility as a biomarker of myocardial injury or endogenous cardioprotective factor.

Lemckert FA, Bournazos A, Eckert DM, Kenzler M, Hawkes JM, Butler TL, Ceely B, North KN, Winlaw DS, Egan JR, Cooper ST.

Cardiovasc Res. 2016 May 15;110(2):178-87. doi: 10.1093/cvr/cvw017. Epub 2016 Jan 19.

39.

Theory of mind in children with Neurofibromatosis Type 1.

Payne JM, Porter M, Pride NA, North KN.

Neuropsychology. 2016 May;30(4):439-48. doi: 10.1037/neu0000262. Epub 2016 Jan 11.

PMID:
26752121
40.

Athlome Project Consortium: a concerted effort to discover genomic and other "omic" markers of athletic performance.

Pitsiladis YP, Tanaka M, Eynon N, Bouchard C, North KN, Williams AG, Collins M, Moran CN, Britton SL, Fuku N, Ashley EA, Klissouras V, Lucia A, Ahmetov II, de Geus E, Alsayrafi M; Athlome Project Consortium.

Physiol Genomics. 2016 Mar;48(3):183-90. doi: 10.1152/physiolgenomics.00105.2015. Epub 2015 Dec 29. Review.

41.

Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion.

Hogarth MW, Garton FC, Houweling PJ, Tukiainen T, Lek M, Macarthur DG, Seto JT, Quinlan KG, Yang N, Head SI, North KN.

Hum Mol Genet. 2016 Mar 1;25(5):866-77. doi: 10.1093/hmg/ddv613. Epub 2015 Dec 17.

42.

Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement.

Webborn N, Williams A, McNamee M, Bouchard C, Pitsiladis Y, Ahmetov I, Ashley E, Byrne N, Camporesi S, Collins M, Dijkstra P, Eynon N, Fuku N, Garton FC, Hoppe N, Holm S, Kaye J, Klissouras V, Lucia A, Maase K, Moran C, North KN, Pigozzi F, Wang G.

Br J Sports Med. 2015 Dec;49(23):1486-91. doi: 10.1136/bjsports-2015-095343.

43.

All the World's a Stage: Facilitating Discovery Science and Improved Cancer Care through the Global Alliance for Genomics and Health.

Lawler M, Siu LL, Rehm HL, Chanock SJ, Alterovitz G, Burn J, Calvo F, Lacombe D, Teh BT, North KN, Sawyers CL; Clinical Working Group of the Global Alliance for Genomics and Health (GA4GH).

Cancer Discov. 2015 Nov;5(11):1133-6. doi: 10.1158/2159-8290.CD-15-0821.

44.

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
45.

The Effect of Heterozygosity for the ACTN3 Null Allele on Human Muscle Performance.

Garton FC, North KN.

Med Sci Sports Exerc. 2016 Mar;48(3):509-20. doi: 10.1249/MSS.0000000000000784. Review.

PMID:
26429734
46.

Rodent models for resolving extremes of exercise and health.

Garton FC, North KN, Koch LG, Britton SL, Nogales-Gadea G, Lucia A.

Physiol Genomics. 2016 Feb;48(2):82-92. doi: 10.1152/physiolgenomics.00077.2015. Epub 2015 Sep 22. Review.

47.

LMOD3: the "missing link" in nemaline myopathy?

Sandaradura S, North KN.

Oncotarget. 2015 Sep 29;6(29):26548-9. doi: 10.18632/oncotarget.5267. No abstract available.

48.

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

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.

Hum Mol Genet. 2015 Nov 15;24(22):6278-92. doi: 10.1093/hmg/ddv334. Epub 2015 Aug 24.

49.

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.

Ilkovski B, Pagnamenta AT, O'Grady GL, Kinoshita T, Howard MF, Lek M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ, Popitsch N, Keays DA, Anzilotti C, Goriely A, Waddell LB, Brilot F, North KN, Kanzawa N, Macarthur DG, Taylor JC, Kini U, Murakami Y, Clarke NF.

Hum Mol Genet. 2015 Nov 1;24(21):6146-59. doi: 10.1093/hmg/ddv331. Epub 2015 Aug 20.

50.

Uptake of health monitoring and disease self-management in Australian adults with neurofibromatosis type 1: strategies to improve care.

Crawford HA, Barton B, Wilson MJ, Berman Y, McKelvey-Martin VJ, Morrison PJ, North KN.

Clin Genet. 2016 Mar;89(3):385-91. doi: 10.1111/cge.12627. Epub 2015 Jul 7.

PMID:
26081173

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