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dystrophia

MedGen UID:
894002
Concept ID:
CN239855
Disease or Syndrome

Professional guidelines

PubMed

Ait Benichou S, Jauvin D, De Serres-Bérard T, Bennett F, Rigo F, Gourdon G, Boutjdir M, Chahine M, Puymirat J
Hum Gene Ther 2022 Aug;33(15-16):810-820. doi: 10.1089/hum.2022.069. PMID: 35794764
Marsh S, Hanson B, Wood MJA, Varela MA, Roberts TC
Mol Ther 2020 Dec 2;28(12):2527-2539. Epub 2020 Oct 14 doi: 10.1016/j.ymthe.2020.10.005. PMID: 33171139Free PMC Article
Kelly AM
Curr Opin Pulm Med 2009 Jul;15(4):376-9. doi: 10.1097/MCP.0b013e32832ae314. PMID: 19373088

Recent clinical studies

Etiology

Weiss JS, Rapuano CJ, Seitz B, Busin M, Kivelä TT, Bouheraoua N, Bredrup C, Nischal KK, Chawla H, Borderie V, Kenyon KR, Kim EK, Møller HU, Munier FL, Berger T, Lisch W
Cornea 2024 Apr 1;43(4):466-527. Epub 2024 Feb 12 doi: 10.1097/ICO.0000000000003420. PMID: 38359414Free PMC Article
Papadimas GK, Papadopoulos C, Kekou K, Kartanou C, Kladi A, Nitsa E, Sofocleous C, Tsanou E, Sarmas I, Kaninia S, Chroni E, Tsivgoulis G, Kimiskidis V, Arnaoutoglou M, Stefanis L, Panas M, Koutsis G, Karadima G, Traeger-Synodinos J
Int J Mol Sci 2022 Dec 7;23(24) doi: 10.3390/ijms232415507. PMID: 36555146Free PMC Article
Veyckemans F, Scholtes JL
Paediatr Anaesth 2013 Sep;23(9):794-803. Epub 2013 Feb 5 doi: 10.1111/pan.12120. PMID: 23384336
Vainzof M, Ayub-Guerrieri D, Onofre PC, Martins PC, Lopes VF, Zilberztajn D, Maia LS, Sell K, Yamamoto LU
J Mol Neurosci 2008 Mar;34(3):241-8. Epub 2008 Jan 18 doi: 10.1007/s12031-007-9023-9. PMID: 18202836
Höweler CJ, Busch HF, Bernini LF, van Loghem E, Meera Khan P, Nijenhuis LE
Brain 1980 Sep;103(3):497-513. doi: 10.1093/brain/103.3.497. PMID: 7417778

Diagnosis

Weiss JS, Møller HU, Aldave AJ, Seitz B, Bredrup C, Kivelä T, Munier FL, Rapuano CJ, Nischal KK, Kim EK, Sutphin J, Busin M, Labbé A, Kenyon KR, Kinoshita S, Lisch W
Cornea 2015 Feb;34(2):117-59. doi: 10.1097/ICO.0000000000000307. PMID: 25564336
Thornton CA
Neurol Clin 2014 Aug;32(3):705-19, viii. Epub 2014 Jun 6 doi: 10.1016/j.ncl.2014.04.011. PMID: 25037086Free PMC Article
Mankodi A
Neurol India 2008 Jul-Sep;56(3):298-304. doi: 10.4103/0028-3886.43448. PMID: 18974556
Huang CC, Kuo HC
Chang Gung Med J 2005 Aug;28(8):517-26. PMID: 16265841
Thornton C
Semin Neurol 1999;19(1):25-33. doi: 10.1055/s-2008-1040823. PMID: 10711986

Therapy

Ait Benichou S, Jauvin D, De Serres-Bérard T, Bennett F, Rigo F, Gourdon G, Boutjdir M, Chahine M, Puymirat J
Hum Gene Ther 2022 Aug;33(15-16):810-820. doi: 10.1089/hum.2022.069. PMID: 35794764
Soltanzadeh P
Genes (Basel) 2022 Feb 17;13(2) doi: 10.3390/genes13020367. PMID: 35205411Free PMC Article
Marsh S, Hanson B, Wood MJA, Varela MA, Roberts TC
Mol Ther 2020 Dec 2;28(12):2527-2539. Epub 2020 Oct 14 doi: 10.1016/j.ymthe.2020.10.005. PMID: 33171139Free PMC Article
Kelly AM
Curr Opin Pulm Med 2009 Jul;15(4):376-9. doi: 10.1097/MCP.0b013e32832ae314. PMID: 19373088
Mai A
Expert Opin Ther Targets 2007 Jun;11(6):835-51. doi: 10.1517/14728222.11.6.835. PMID: 17504020

Prognosis

Katsuse K, Sato K, Tanaka N, Uchida I, Toda T, Mikata T, Motoyoshi Y
Intern Med 2022;61(15):2281-2286. Epub 2022 Aug 1 doi: 10.2169/internalmedicine.8633-21. PMID: 35908960Free PMC Article
Meola G, Jones K, Wei C, Timchenko LT
Histol Histopathol 2013 Sep;28(9):1089-98. Epub 2013 Mar 28 doi: 10.14670/HH-28.1089. PMID: 23536431
Timman R, Tibben A, Wintzen AR
J Rehabil Med 2010 Oct;42(9):823-30. doi: 10.2340/16501977-0598. PMID: 20878042
Kelly AM
Curr Opin Pulm Med 2009 Jul;15(4):376-9. doi: 10.1097/MCP.0b013e32832ae314. PMID: 19373088
Lambrecht JT, Kreusch T
Cleft Palate Craniofac J 1997 Jul;34(4):342-50. doi: 10.1597/1545-1569_1997_034_0341_eyocpf_2.3.co_2. PMID: 9257026

Clinical prediction guides

Di Leo V, Lawless C, Roussel MP, Gomes TB, Gorman GS, Russell OM, Tuppen HAL, Duchesne E, Vincent AE
J Neuromuscul Dis 2023;10(6):1111-1126. doi: 10.3233/JND-230099. PMID: 37638448Free PMC Article
Hamilton MJ, Atalaia A, McLean J, Cumming SA, Evans JJ, Ballantyne B, Jampana R, The Scottish Myotonic Dystrophy Consortium, Longman C, Livingston E, van der Plas E, Koscik T, Nopoulos P, Farrugia ME, Monckton DG
Neuromuscul Disord 2022 May;32(5):377-389. Epub 2022 Feb 14 doi: 10.1016/j.nmd.2022.02.003. PMID: 35361525
Meola G, Jones K, Wei C, Timchenko LT
Histol Histopathol 2013 Sep;28(9):1089-98. Epub 2013 Mar 28 doi: 10.14670/HH-28.1089. PMID: 23536431
Timman R, Tibben A, Wintzen AR
J Rehabil Med 2010 Oct;42(9):823-30. doi: 10.2340/16501977-0598. PMID: 20878042
Vainzof M, Ayub-Guerrieri D, Onofre PC, Martins PC, Lopes VF, Zilberztajn D, Maia LS, Sell K, Yamamoto LU
J Mol Neurosci 2008 Mar;34(3):241-8. Epub 2008 Jan 18 doi: 10.1007/s12031-007-9023-9. PMID: 18202836

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