References analysis of the Wikipedia article "Myotonic dystrophy" in the English version

doi.org

Meola, G; Cardani, R (April 2015). "Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1852 (4): 594–606. doi:10.1016/j.bbadis.2014.05.019. PMID 24882752.

Klein, AF; Dastidar, S; Furling, D; Chuah, MK (2015). "Therapeutic Approaches for Dominant Muscle Diseases: Highlight on Myotonic Dystrophy". Current Gene Therapy. 15 (4): 329–37. doi:10.2174/1566523215666150630120537. PMID 26122101.

Johnson, N. (2021). "Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program". Neurology. 96 (7): e1045–e1053. doi:10.1212/WNL.0000000000011425. PMC 8055332. PMID 33472919.

Johnson, NE (December 2019). "Myotonic Muscular Dystrophies". Continuum (Minneapolis, Minn.). 25 (6): 1682–1695. doi:10.1212/CON.0000000000000793. PMID 31794466. S2CID 208531759.

Ho, G; Carey, KA; Cardamone, M; Farrar, MA (January 2019). "Myotonic dystrophy type 1: clinical manifestations in children and adolescents". Archives of Disease in Childhood. 104 (1): 48–52. doi:10.1136/archdischild-2018-314837. PMID 29871899. S2CID 46949763.

Harley HG, Walsh KV, Rundle S, Brook JD, Sarfarazi M, Koch MC, Floyd JL, Harper PS, Shaw DJ (May 1991). "Localisation of the myotonic dystrophy locus to 19q13.2-19q13.3 and its relationship to twelve polymorphic loci on 19q". Hum. Genet. 87 (1): 73–80. doi:10.1007/BF01213096. PMID 2037285. S2CID 31229908.

Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barceló J, O'Hoy K (March 1992). "Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene". Science. 255 (5049): 1253–5. Bibcode:1992Sci...255.1253M. doi:10.1126/science.1546325. PMID 1546325.

van der Ven PF, Jansen G, van Kuppevelt TH, Perryman MB, Lupa M, Dunne PW, ter Laak HJ, Jap PH, Veerkamp JH, Epstein HF (November 1993). "Myotonic dystrophy kinase is a component of neuromuscular junctions". Hum. Mol. Genet. 2 (11): 1889–94. doi:10.1093/hmg/2.11.1889. PMID 8281152.

Turner C, Hilton-Jones D (April 2010). "The myotonic dystrophies: diagnosis and management". J. Neurol. Neurosurg. Psychiatry. 81 (4): 358–67. doi:10.1136/jnnp.2008.158261. PMID 20176601.

Yum, Kevin; Wang, Eric T; Kalsotra, Auinash (2017). "Myotonic dystrophy: disease repeat range, penetrance, age of onset, and relationship between repeat size and phenotypes". Current Opinion in Genetics & Development. 44: 30–37. doi:10.1016/j.gde.2017.01.007. ISSN 0959-437X. PMC 5447468. PMID 28213156.

Usdin K, House NC, Freudenreich CH (2015). "Repeat instability during DNA repair: Insights from model systems". Crit. Rev. Biochem. Mol. Biol. 50 (2): 142–67. doi:10.3109/10409238.2014.999192. PMC 4454471. PMID 25608779.

Ho TH, Savkur RS, Poulos MG, Mancini MA, Swanson MS, Cooper TA (July 2005). "Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy". J. Cell Sci. 118 (Pt 13): 2923–33. doi:10.1242/jcs.02404. PMID 15961406.

Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, Schneider C, Koch MC, Beilman GJ, Harrison AR, Dalton JC, Ranum LP (February 2003). "Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum". Neurology. 60 (4): 657–64. doi:10.1212/01.wnl.0000054481.84978.f9. PMID 12601109. S2CID 35860531.

Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP (August 2001). "Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9". Science. 293 (5531): 864–7. doi:10.1126/science.1062125. PMID 11486088. S2CID 30903810.

Peterson, Janel A. M.; Cooper, Thomas A. (2022-11-26). "Clinical and Molecular Insights into Gastrointestinal Dysfunction in Myotonic Dystrophy Types 1 & 2". International Journal of Molecular Sciences. 23 (23): 14779. doi:10.3390/ijms232314779. ISSN 1422-0067. PMC 9737721. PMID 36499107.

Gherardi, Romain; Amato, Anthony A.; Lidov, Hart G.; Girolami, Umberto De (Nov 2018). "Pathology of Skeletal Muscle". In Gray, Francoise; Duyckaerts, Charles; Girolami, Umberto de (eds.). Escourolle and Poirier's manual of basic neuropathology (Sixth ed.). New York, NY: Oxford University Press. doi:10.1093/med/9780190675011.001.0001. ISBN 9780190675011.

Hilbert, JE; Ashizawa, T; Day, JW; Luebbe, EA; Martens, WB; McDermott, MP; Tawil, R; Thornton, CA; Moxley RT, 3rd (October 2013). "Diagnostic odyssey of patients with myotonic dystrophy". Journal of Neurology. 260 (10): 2497–504. doi:10.1007/s00415-013-6993-0. PMC 4162528. PMID 23807151.{{cite journal}}: CS1 maint: numeric names: authors list (link)

Le Ber I, Martinez M, Campion D, Laquerrière A, Bétard C, Bassez G, Girard C, Saugier-Veber P, Raux G, Sergeant N, Magnier P, Maisonobe T, Eymard B, Duyckaerts C, Delacourte A, Frebourg T, Hannequin D (September 2004). "A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24". Brain. 127 (Pt 9): 1979–92. doi:10.1093/brain/awh216. PMID 15215218.

Udd B, Meola G, Krahe R, Thornton C, Ranum LP, Bassez G, Kress W, Schoser B, Moxley R (June 2006). "140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management". Neuromuscul. Disord. 16 (6): 403–13. doi:10.1016/j.nmd.2006.03.010. PMID 16684600. S2CID 37453148.

Ashizawa, T; Gagnon, C; Groh, WJ; Gutmann, L; Johnson, NE; Meola, G; Moxley R, 3rd; Pandya, S; Rogers, MT; Simpson, E; Angeard, N; Bassez, G; Berggren, KN; Bhakta, D; Bozzali, M; Broderick, A; Byrne, JLB; Campbell, C; Cup, E; Day, JW; De Mattia, E; Duboc, D; Duong, T; Eichinger, K; Ekstrom, AB; van Engelen, B; Esparis, B; Eymard, B; Ferschl, M; Gadalla, SM; Gallais, B; Goodglick, T; Heatwole, C; Hilbert, J; Holland, V; Kierkegaard, M; Koopman, WJ; Lane, K; Maas, D; Mankodi, A; Mathews, KD; Monckton, DG; Moser, D; Nazarian, S; Nguyen, L; Nopoulos, P; Petty, R; Phetteplace, J; Puymirat, J; Raman, S; Richer, L; Roma, E; Sampson, J; Sansone, V; Schoser, B; Sterling, L; Statland, J; Subramony, SH; Tian, C; Trujillo, C; Tomaselli, G; Turner, C; Venance, S; Verma, A; White, M; Winblad, S (December 2018). "Consensus-based care recommendations for adults with myotonic dystrophy type 1". Neurology. Clinical Practice. 8 (6): 507–520. doi:10.1212/CPJ.0000000000000531. PMC 6294540. PMID 30588381.{{cite journal}}: CS1 maint: numeric names: authors list (link)

Dany A, Barbe C, Rapin A, Réveillère C, Hardouin JB, Morrone I, Wolak-Thierry A, Dramé M, Calmus A, Sacconi S, Bassez G, Tiffreau V, Richard I, Gallais B, Prigent H, Taiar R, Jolly D, Novella JL, Boyer FC (November 2015). "Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease". Qual Life Res. 24 (11): 2615–23. doi:10.1007/s11136-015-1013-8. PMID 26141500. S2CID 25834947.

Voet, Nicoline Bm; van der Kooi, Elly L.; van Engelen, Baziel Gm; Geurts, Alexander Ch (2019). "Strength training and aerobic exercise training for muscle disease". The Cochrane Database of Systematic Reviews. 2019 (12): CD003907. doi:10.1002/14651858.CD003907.pub5. ISSN 1469-493X. PMC 6953420. PMID 31808555.

Cup EH, Pieterse AJ, Ten Broek-Pastoor JM, Munneke M, van Engelen BG, Hendricks HT, van der Wilt GJ, Oostendorp RA (November 2007). "Exercise therapy and other types of physical therapy for patients with neuromuscular diseases: a systematic review". Arch Phys Med Rehabil. 88 (11): 1452–64. doi:10.1016/j.apmr.2007.07.024. PMID 17964887.

Orngreen MC, Olsen DB, Vissing J (May 2005). "Aerobic training in patients with myotonic dystrophy type 1". Ann. Neurol. 57 (5): 754–7. doi:10.1002/ana.20460. PMID 15852373. S2CID 26547411.

Johnson, NE; Butterfield, RJ; Mayne, K; Newcomb, T; Imburgia, C; Dunn, D; Duval, B; Feldkamp, ML; Weiss, RB (16 February 2021). "Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program". Neurology. 96 (7): e1045–e1053. doi:10.1212/WNL.0000000000011425. PMC 8055332. PMID 33472919.

Mishra SK, Singh S, Lee B, Khosa S, Moheb N, Tandon VA (2018). ""Dystrophia Myotonica" and the Legacy of Hans Gustav Wilhelm Steinert". Ann Indian Acad Neurol. 21 (2): 116–118. doi:10.4103/aian.AIAN_182_17. PMC 6073962. PMID 30122835.

Wheeler TM, Lueck JD, Swanson MS, Dirksen RT, Thornton CA (December 2007). "Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy". J. Clin. Invest. 117 (12): 3952–7. doi:10.1172/JCI33355. PMC 2075481. PMID 18008009.

Nakamori M, Taylor K, Mochizuki H, Sobczak K, Takahashi MP (January 2016). "Oral administration of erythromycin decreases RNA toxicity in myotonic dystrophy". Annals of Clinical and Translational Neurology. 3 (1): 42–54. doi:10.1002/acn3.271. PMC 4704483. PMID 26783549.

Rönnblom A, Andersson S, Hellström PM, Danielsson A (August 2002). "Gastric emptying in myotonic dystrophy". Eur. J. Clin. Invest. 32 (8): 570–4. doi:10.1046/j.1365-2362.2002.01028.x. PMID 12190956. S2CID 12510078.

harvard.edu

ui.adsabs.harvard.edu

nih.gov

pubmed.ncbi.nlm.nih.gov

Johnson, NE (December 2019). "Myotonic Muscular Dystrophies". Continuum (Minneapolis, Minn.). 25 (6): 1682–1695. doi:10.1212/CON.0000000000000793. PMID 31794466. S2CID 208531759.

Bird, Thomas D. (1 January 1993). "Myotonic Dystrophy Type 1". GeneReviews. PMID 20301344. Archived from the original on 18 January 2017. Retrieved 9 May 2016.update 2015

Turner C, Hilton-Jones D (April 2010). "The myotonic dystrophies: diagnosis and management". J. Neurol. Neurosurg. Psychiatry. 81 (4): 358–67. doi:10.1136/jnnp.2008.158261. PMID 20176601.

Dalton, Joline C.; Ranum, Laura P.W.; Day, John W. (1993-01-01). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.). Myotonic Dystrophy Type 2. Seattle (WA): University of Washington, Seattle. PMID 20301639. Archived from the original on 2017-01-28.updated 2013

Orngreen MC, Olsen DB, Vissing J (May 2005). "Aerobic training in patients with myotonic dystrophy type 1". Ann. Neurol. 57 (5): 754–7. doi:10.1002/ana.20460. PMID 15852373. S2CID 26547411.

Olbrych-Karpińska B, Tutaj A (September 1981). "[Case of Curschmann-Batten-Steinert syndrome]". Wiad. Lek. (in Polish). 34 (17): 1467–9. ISSN 0043-5147. PMID 7331343.

ncbi.nlm.nih.gov

Bird, Thomas D. (1 January 1993). "Myotonic Dystrophy Type 1". GeneReviews. PMID 20301344. Archived from the original on 18 January 2017. Retrieved 9 May 2016.update 2015

ghr.nlm.nih.gov

"myotonic dystrophy". GHR. 11 October 2016. Archived from the original on 18 October 2016. Retrieved 16 October 2016.

semanticscholar.org

api.semanticscholar.org

Johnson, NE (December 2019). "Myotonic Muscular Dystrophies". Continuum (Minneapolis, Minn.). 25 (6): 1682–1695. doi:10.1212/CON.0000000000000793. PMID 31794466. S2CID 208531759.

Orngreen MC, Olsen DB, Vissing J (May 2005). "Aerobic training in patients with myotonic dystrophy type 1". Ann. Neurol. 57 (5): 754–7. doi:10.1002/ana.20460. PMID 15852373. S2CID 26547411.

web.archive.org

"myotonic dystrophy". GHR. 11 October 2016. Archived from the original on 18 October 2016. Retrieved 16 October 2016.

Bird, Thomas D. (1 January 1993). "Myotonic Dystrophy Type 1". GeneReviews. PMID 20301344. Archived from the original on 18 January 2017. Retrieved 9 May 2016.update 2015

"Juvenile-Onset MMD1". Muscular Dystrophy Association. MDA. Archived from the original on 8 March 2015. Retrieved 17 March 2015.

"Myotonic dystrophy: Etiology, clinical features, and diagnosis". Archived from the original on 2014-02-22. Retrieved 2014-02-15.

Pandya, S; Eichinger, K. "Role of physical therapy in the assessment and management of individuals with myotonic dystrophy". Myotonic Dystrophy Foundation. Archived from the original on 26 September 2015. Retrieved 5 May 2012.

Myotonic dystrophy (English Wikipedia)

doi.org

harvard.edu

ui.adsabs.harvard.edu

lecturio.com

mda.org

myotonic.org

nih.gov

pubmed.ncbi.nlm.nih.gov

ncbi.nlm.nih.gov

ghr.nlm.nih.gov

semanticscholar.org

api.semanticscholar.org

unsw.edu.au

unsworks.unsw.edu.au

uptodate.com

web.archive.org

worldcat.org

search.worldcat.org