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Journal Abstract Search

542 related items for PubMed ID: 26179919

  • 1.
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  • 2. Inherited white matter disorders: Hypomyelination (myelin disorders).
    Perrier S, Gauquelin L, Bernard G.
    Handb Clin Neurol; 2024; 204():197-223. PubMed ID: 39322379
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  • 3. Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene.
    Hudson LD.
    J Child Neurol; 2003 Sep; 18(9):616-24. PubMed ID: 14572140
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  • 4. 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 Sep; 17(4):293-300. PubMed ID: 24519770
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  • 5. Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
    Owczarek-Lipska M, Mulahasanovic L, Obermaier CD, Hörtnagel K, Neubauer BA, Korenke GC, Biskup S, Neidhardt J.
    Mol Biol Rep; 2019 Aug; 46(4):4507-4516. PubMed ID: 31270756
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  • 6. 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; 29(7):924-31. PubMed ID: 23771846
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  • 7. 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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  • 8. PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.
    Bonnet-Dupeyron MN, Combes P, Santander P, Cailloux F, Boespflug-Tanguy O, Vaurs-Barrière C.
    Hum Mutat; 2008 Aug; 29(8):1028-36. PubMed ID: 18470932
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  • 12. Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease.
    Elpidorou M, Poulter JA, Szymanska K, Baron W, Junger K, Boldt K, Ueffing M, Green L, Livingston JH, Sheridan EG, Johnson CA.
    Eur J Hum Genet; 2022 Jul; 30(7):860-864. PubMed ID: 35217805
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  • 14. A splicing mutation of proteolipid protein 1 in Pelizaeus-Merzbacher disease.
    Omata T, Nagai J, Shimbo H, Koizume S, Miyagi Y, Kurosawa K, Yamashita S, Osaka H, Inoue K.
    Brain Dev; 2016 Jun; 38(6):581-4. PubMed ID: 26725305
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  • 15. Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus-Merzbacher phenotype.
    Hoffman-Zacharska D, Kmieć T, Poznański J, Jurek M, Bal J.
    Brain Dev; 2013 Oct; 35(9):877-80. PubMed ID: 23245814
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  • 16. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.
    Inoue K.
    Neurogenetics; 2005 Feb; 6(1):1-16. PubMed ID: 15627202
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  • 18. Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease.
    Henneke M, Gegner S, Hahn A, Plecko-Startinig B, Weschke B, Gärtner J, Brockmann K.
    Neurology; 2010 Jun 01; 74(22):1785-9. PubMed ID: 20513814
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