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Items: 1 to 20 of 85

1.

Genotype and other determinants of respiratory function in myotonic dystrophy type 1.

Boussaïd G, Wahbi K, Laforet P, Eymard B, Stojkovic T, Behin A, Djillali A, Orlikowski D, Prigent H, Lofaso F.

Neuromuscul Disord. 2018 Mar;28(3):222-228. doi: 10.1016/j.nmd.2017.12.011. Epub 2017 Dec 26.

PMID:
29398295
2.

Genetics correlates with lung function and nocturnal ventilation in myotonic dystrophy.

Monteiro R, Bento J, Gonçalves MR, Pinto T, Winck JC.

Sleep Breath. 2013 Sep;17(3):1087-92. doi: 10.1007/s11325-013-0807-6. Epub 2013 Jan 15.

PMID:
23319325
3.

Factors influencing compliance with non-invasive ventilation at long-term in patients with myotonic dystrophy type 1: A prospective cohort.

Boussaïd G, Lofaso F, Santos DB, Vaugier I, Pottier S, Prigent H, Orlikowski D, Bahrami S.

Neuromuscul Disord. 2016 Oct;26(10):666-674. doi: 10.1016/j.nmd.2016.07.014. Epub 2016 Aug 1.

PMID:
27542439
4.

Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study.

Rossi S, Della Marca G, Ricci M, Perna A, Nicoletti TF, Brunetti V, Meleo E, Calvello M, Petrucci A, Antonini G, Bucci E, Licchelli L, Sancricca C, Massa R, Rastelli E, Botta A, Di Muzio A, Romano S, Garibaldi M, Silvestri G.

J Neurol Sci. 2019 Apr 15;399:118-124. doi: 10.1016/j.jns.2019.02.012. Epub 2019 Feb 7.

PMID:
30798109
5.

Respiratory failure in a mouse model of myotonic dystrophy does not correlate with the CTG repeat length.

Panaite PA, Kuntzer T, Gourdon G, Barakat-Walter I.

Respir Physiol Neurobiol. 2013 Oct 1;189(1):22-6. doi: 10.1016/j.resp.2013.06.014. Epub 2013 Jun 27.

PMID:
23811192
6.

Respiratory dysfunction in myotonic dystrophy type 1: A systematic review.

Hawkins AM, Hawkins CL, Abdul Razak K, Khoo TK, Tran K, Jackson RV.

Neuromuscul Disord. 2019 Mar;29(3):198-212. doi: 10.1016/j.nmd.2018.12.002. Epub 2018 Dec 9. Review.

PMID:
30765255
7.

Effect of long-term steroids on cough efficiency and respiratory muscle strength in patients with Duchenne muscular dystrophy.

Daftary AS, Crisanti M, Kalra M, Wong B, Amin R.

Pediatrics. 2007 Feb;119(2):e320-4.

PMID:
17272595
8.

Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart Registry.

Chong-Nguyen C, Wahbi K, Algalarrondo V, Bécane HM, Radvanyi-Hoffman H, Arnaud P, Furling D, Lazarus A, Bassez G, Béhin A, Fayssoil A, Laforêt P, Stojkovic T, Eymard B, Duboc D.

Circ Cardiovasc Genet. 2017 Jun;10(3). pii: e001526. doi: 10.1161/CIRCGENETICS.116.001526.

PMID:
28611030
9.

Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2.

Bianchi ML, Losurdo A, Di Blasi C, Santoro M, Masciullo M, Conte G, Valenza V, Damiani A, Della Marca G, Silvestri G.

Sleep Breath. 2014 Sep;18(3):579-89. doi: 10.1007/s11325-013-0921-5. Epub 2013 Dec 6.

PMID:
24310756
10.

Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans.

Kim SY, Kim JY, Kim GP, Sung JJ, Lim KS, Lee KW, Chae JH, Hong YH, Seong MW, Park SS.

Korean J Lab Med. 2008 Dec;28(6):483-92. doi: 10.3343/kjlm.2008.28.6.483.

11.

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.

Kamsteeg EJ, Kress W, Catalli C, Hertz JM, Witsch-Baumgartner M, Buckley MF, van Engelen BG, Schwartz M, Scheffer H.

Eur J Hum Genet. 2012 Dec;20(12):1203-8. doi: 10.1038/ejhg.2012.108. Epub 2012 May 30.

12.

The relationship of body habitus and respiratory function in Duchenne muscular dystrophy.

Chew K, Carey K, Ho G, Mallitt KA, Widger J, Farrar M.

Respir Med. 2016 Oct;119:35-40. doi: 10.1016/j.rmed.2016.08.018. Epub 2016 Aug 22.

13.

The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy.

Laberge L, Veillette S, Mathieu J, Auclair J, Perron M.

Clin Genet. 2007 Jan;71(1):59-66.

PMID:
17204048
14.

Increased temporal dispersion of myocardial repolarization in myotonic dystrophy type 1: beyond the cardiac conduction system.

Magrì D, Piccirillo G, Bucci E, Pignatelli G, Cauti FM, Morino S, Latino P, Santini D, Marrara F, Volpe M, Antonini G, Testa M.

Int J Cardiol. 2012 May 3;156(3):259-64. doi: 10.1016/j.ijcard.2010.10.132. Epub 2010 Nov 26.

PMID:
21112106
15.

Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients.

Salehi LB, Bonifazi E, Stasio ED, Gennarelli M, Botta A, Vallo L, Iraci R, Massa R, Antonini G, Angelini C, Novelli G.

Genet Test. 2007 Spring;11(1):84-90.

PMID:
17394397
16.

Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1).

Winblad S, Lindberg C, Hansen S.

Behav Brain Funct. 2006 May 15;2:16.

17.

Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1.

Sistiaga A, Urreta I, Jodar M, Cobo AM, Emparanza J, Otaegui D, Poza JJ, Merino JJ, Imaz H, Martí-Massó JF, López de Munain A.

Psychol Med. 2010 Mar;40(3):487-95. doi: 10.1017/S0033291709990602. Epub 2009 Jul 23.

PMID:
19627641
18.

Stapedial reflex in myotonic dystrophy type 1 and CTG repeat expansion.

Osanai R, Kinoshita M, Hirose K.

J Neurol. 2001 Dec;248(12):1056-61.

PMID:
12013582
19.

Lack of correlation between the ventilatory response to CO2 and lung function impairment in myotonic dystrophy patients: evidence for a dysregulation at central level.

Poussel M, Thil C, Kaminsky P, Mercy M, Gomez E, Chaouat A, Chabot F, Chenuel B.

Neuromuscul Disord. 2015 May;25(5):403-8. doi: 10.1016/j.nmd.2015.02.006. Epub 2015 Feb 17.

PMID:
25753091
20.

Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions.

Ho G, Cardamone M, Farrar M.

World J Clin Pediatr. 2015 Nov 8;4(4):66-80. doi: 10.5409/wjcp.v4.i4.66. eCollection 2015 Nov 8. Review.

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