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Journal Abstract Search

139 related items for PubMed ID: 31137068

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  • 3. A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: A new MRI finding.
    Pavlidou E, Ramachandran V, Govender V, Wilson C, Das R, Vlachou V, Pavlou E, Saggar A, Mankad K, Kinali M.
    Brain Dev; 2017 Mar; 39(3):271-274. PubMed ID: 27793435
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  • 4. Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
    Masliah-Planchon J, Dupont C, Vartzelis G, Trimouille A, Eymard-Pierre E, Gay-Bellile M, Renaldo F, Dorboz I, Pagan C, Quentin S, Elmaleh M, Kotsogianni C, Konstantelou E, Drunat S, Tabet AC, Boespflug-Tanguy O.
    BMC Med Genet; 2015 Sep 02; 16():77. PubMed ID: 26329556
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  • 5. Classic Pelizaeus-Merzbacher disease in a girl with an unbalanced chromosomal translocation and functional duplication of PLP1.
    Yiu EM, Farrell SA, Soman T.
    Mov Disord; 2009 Oct 30; 24(14):2171-2. PubMed ID: 19705472
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  • 7. Magnetic resonance imaging of a unique mutation in a family with Pelizaeus-Merzbacher disease.
    Miller E, Widjaja E, Nilsson D, Yoon G, Banwell B, Blaser S.
    Am J Med Genet A; 2010 Mar 30; 152A(3):748-52. PubMed ID: 20186781
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  • 8. The magnetic resonance imaging spectrum of Pelizaeus-Merzbacher disease: A multicenter study of 19 patients.
    Sumida K, Inoue K, Takanashi J, Sasaki M, Watanabe K, Suzuki M, Kurahashi H, Omata T, Tanaka M, Yokochi K, Iio J, Iyoda K, Kurokawa T, Matsuo M, Sato T, Iwaki A, Osaka H, Kurosawa K, Yamamoto T, Matsumoto N, Maikusa N, Matsuda H, Sato N.
    Brain Dev; 2016 Jun 30; 38(6):571-80. PubMed ID: 26774704
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  • 9. A novel deletion (c663delC) at exon 5 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
    Matsumura T, Osaka H, Inoue K, Sugiyama N, Onishi H, Yamada Y, Hayashi M, Kosaka K.
    Hum Mutat; 2001 Jun 30; 17(1):80. PubMed ID: 11139261
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  • 12. The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.
    Hoffman-Zacharska D, Mierzewska H, Szczepanik E, Poznański J, Mazurczak T, Jakubiuk-Tomaszuk A, Mądry J, Kierdaszuk A, Bal J.
    Med Wieku Rozwoj; 2013 Jun 30; 17(4):293-300. PubMed ID: 24519770
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  • 13. Three new PLP1 splicing mutations demonstrate pathogenic and phenotypic diversity of Pelizaeus-Merzbacher disease.
    Laššuthová P, Žaliová M, Inoue K, Haberlová J, Sixtová K, Sakmaryová I, Paděrová K, Mazanec R, Zámečník J, Šišková D, Garbern J, Seeman P.
    J Child Neurol; 2014 Jul 30; 29(7):924-31. PubMed ID: 23771846
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  • 14. Pelizaeus-Merzbacher disease as a chromosomal disorder.
    Yamamoto T, Shimojima K.
    Congenit Anom (Kyoto); 2013 Mar 30; 53(1):3-8. PubMed ID: 23480352
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  • 19. A novel PLP1 deletion causing classic Pelizaeus-Merzbacher disease.
    Prior C, Muñoz-Calero M, Gómez-Gonzalez C, Martinez-Montero P, Barrio L, Poo P, Martorell L, Molano J.
    J Neurol Sci; 2019 Feb 15; 397():135-137. PubMed ID: 30616056
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  • 20. Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.
    Fattal-Valevski A, DiMaio MS, Hisama FM, Hobson GM, Davis-Williams A, Garbern JY, Mahoney MJ, Kolodny EH, Pastores GM.
    J Child Neurol; 2009 May 15; 24(5):618-24. PubMed ID: 19151366
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