Dystrophie myotonique de Steinert (French Wikipedia)

Analysis of information sources in references of the Wikipedia article "Dystrophie myotonique de Steinert" in French language version.

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4neurology.org

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2sciencedirect.com

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2nature.com

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1nih.gov

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1nejm.org

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1ama-assn.org

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1jci.org

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1myotonic.org

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1jbc.org

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1maladiedesteinert.info

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ama-assn.org

jama.ama-assn.org

(en) Gadalla SM, Lund M, Pfeiffer RM et al. « Cancer risk among patients with myotonic muscular dystrophy » JAMA 2011;306:2480-6.

jamanetwork.com

Hartman J, Patki T, Johnson NE, Diagnosis and Management of Myotonic Dystrophy Type 1, JAMA, 2024;331:1227–1228

jbc.org

Herrendorff R, Faleschini MT, Stiefvater A et al. Identification of plant-derived alkaloids with therapeutic potential for myotonic dystrophy type I, J Biol Chem, 2016;291:17165–17177

jci.org

Mikhail AI, Nagy PL, Manta K et al. Aerobic exercise elicits clinical adaptations in myotonic dystrophy type 1 patients independently of pathophysiological changes, J Clin Invest, 2022;132:e156125

maladiedesteinert.info

« Le Portail d'Information sur la MALADIE DE STEINERT (DM 1) et la dystrophie myotonique proximale (Promm / DM 2) »

myotonic.org

nature.com

Savkur RS, Philips AV, Cooper TA, Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy, Nat Genet, 2001;29:40–47
Wheeler TM, Leger AJ, Pandey SK et al. Targeting nuclear RNA for in vivo correction of myotonic dystrophy, Nature, 2012;488:111-115

nejm.org

content.nejm.org

(en) Groh WJ, Groh MR, Saha C et al. « Electrocardiographic abnormalities and sudden death in myotonic dystrophy Type 1 » N Eng J Med. 2008;358:2688-97.

neurology.org

Johnson NE, Butterfield RJ, Mayne K et al. Population-based prevalence of myotonic dystrophy type 1 using genetic analysis of statewide blood screening program, Neurology, 2021;96:e1045-e1053
Ashizawa T, Gagnon C, Groh WJ et al. Consensus-based care recommendations for adults with myotonic dystrophy type 1, Neurol Clin Pract, 2018;8:507-520
Johnson NE, Aldana EZ, Angeard N et al. Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1, Neurol Clin Pract, 2019;9:443-454
Logigian EL, Martens WB, Moxley RT IV et al. Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1, Neurology, 2010;74:1441-1448

nih.gov

ncbi.nlm.nih.gov

(en) Brook JD, McCurrach ME, Harley HG et al. « Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member » Cell 1992;68:799-808

oup.com

academic.oup.com

Lin X, Miller JW, Mankodi A et al. Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy, Hum Mol Genet, 2006;15:2087–2097

sciencedirect.com

Vignaud A, Ferry A, Huguet A et al. Progressive skeletal muscle weakness in transgenic mice expressing CTG expansions is associated with the activation of the ubiquitin-proteasome pathway, Neuromuscul Disord, 2010;20:319–325
Beffy P, Del Carratore R, Masini M, Furling D, Puymirat J, Masiello P, Simili M, Altered signal transduction pathways and induction of autophagy in human myotonic dystrophy type 1 myoblasts, Int J Biochem Cell Biol, 2010;42:1973–1983

springer.com

link.springer.com

Hilbert JE, Ashizawa T, Day JW et al. Diagnostic odyssey of patients with myotonic dystrophy, J Neurol, 2013;260:2497-2504

wiley.com

onlinelibrary.wiley.com

Machuca-Tzili L, Brook D, Hilton-Jones D, Clinical and molecular aspects of the myotonic dystrophies: a review, Muscle Nerve, 2005;32:1–18