These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

191 related items for PubMed ID: 22283455

  • 1. High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.
    Bilir B, Yapici Z, Yalcinkaya C, Baris I, Carvalho CM, Bartnik M, Ozes B, Eraksoy M, Lupski JR, Battaloglu E.
    Clin Genet; 2013 Jan; 83(1):66-72. PubMed ID: 22283455
    [Abstract] [Full Text] [Related]

  • 2. GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
    Henneke M, Combes P, Diekmann S, Bertini E, Brockmann K, Burlina AP, Kaiser J, Ohlenbusch A, Plecko B, Rodriguez D, Boespflug-Tanguy O, Gärtner J.
    Neurology; 2008 Mar 04; 70(10):748-54. PubMed ID: 18094336
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.
    Shimojima K, Inoue T, Hoshino A, Kakiuchi S, Watanabe Y, Sasaki M, Nishimura A, Takeshita-Yanagisawa A, Tajima G, Ozawa H, Kubota M, Tohyama J, Sasaki M, Oka A, Saito K, Osawa M, Yamamoto T.
    Brain Dev; 2010 Mar 01; 32(3):171-9. PubMed ID: 19328639
    [Abstract] [Full Text] [Related]

  • 5. PLP1 gene analysis in 88 patients with leukodystrophy.
    Martínez-Montero P, Muñoz-Calero M, Vallespín E, Campistol J, Martorell L, Ruiz-Falcó MJ, Santana A, Pons R, Dinopoulos A, Sierra C, Nevado J, Molano J.
    Clin Genet; 2013 Dec 01; 84(6):566-71. PubMed ID: 23347225
    [Abstract] [Full Text] [Related]

  • 6. 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 01; 46(4):4507-4516. PubMed ID: 31270756
    [Abstract] [Full Text] [Related]

  • 7. 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 Aug 01; 17(4):293-300. PubMed ID: 24519770
    [Abstract] [Full Text] [Related]

  • 8. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
    Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR.
    Hum Mol Genet; 2006 Jul 15; 15(14):2250-65. PubMed ID: 16774974
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 29(8):1028-36. PubMed ID: 18470932
    [Abstract] [Full Text] [Related]

  • 10. A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.
    Salviati L, Trevisson E, Baldoin MC, Toldo I, Sartori S, Calderone M, Tenconi R, Laverda A.
    Neurogenetics; 2007 Jan 15; 8(1):57-60. PubMed ID: 17031678
    [Abstract] [Full Text] [Related]

  • 11. Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder.
    Lossos A, Elazar N, Lerer I, Schueler-Furman O, Fellig Y, Glick B, Zimmerman BE, Azulay H, Dotan S, Goldberg S, Gomori JM, Ponger P, Newman JP, Marreed H, Steck AJ, Schaeren-Wiemers N, Mor N, Harel M, Geiger T, Eshed-Eisenbach Y, Meiner V, Peles E.
    Brain; 2015 Sep 15; 138(Pt 9):2521-36. PubMed ID: 26179919
    [Abstract] [Full Text] [Related]

  • 12. Inherited white matter disorders: Hypomyelination (myelin disorders).
    Perrier S, Gauquelin L, Bernard G.
    Handb Clin Neurol; 2024 Sep 15; 204():197-223. PubMed ID: 39322379
    [Abstract] [Full Text] [Related]

  • 13. Pelizaeus-Merzbacher disease as a chromosomal disorder.
    Yamamoto T, Shimojima K.
    Congenit Anom (Kyoto); 2013 Mar 15; 53(1):3-8. PubMed ID: 23480352
    [Abstract] [Full Text] [Related]

  • 14. Neurogenetics of Pelizaeus-Merzbacher disease.
    Osório MJ, Goldman SA.
    Handb Clin Neurol; 2018 Mar 15; 148():701-722. PubMed ID: 29478609
    [Abstract] [Full Text] [Related]

  • 15. The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.
    Woodward KJ.
    Expert Rev Mol Med; 2008 May 19; 10():e14. PubMed ID: 18485258
    [Abstract] [Full Text] [Related]

  • 16. A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease.
    Hobson G, Stabley D, Funanage V, Marks H.
    Hum Mutat; 2001 Feb 19; 17(2):152. PubMed ID: 11180600
    [Abstract] [Full Text] [Related]

  • 17. Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.
    Wang JM, Wu Y, Wang HF, Deng YH, Yang YL, Qin J, Li XY, Wu XR, Jiang YW.
    Chin Med J (Engl); 2008 Sep 05; 121(17):1638-42. PubMed ID: 19024090
    [Abstract] [Full Text] [Related]

  • 18. Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene.
    Sartori S, Burlina AB, Salviati L, Trevisson E, Toldo I, Laverda AM, Burlina AP.
    Eur J Paediatr Neurol; 2008 Jul 05; 12(4):348-50. PubMed ID: 17881259
    [Abstract] [Full Text] [Related]

  • 19. 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 05; 35(9):877-80. PubMed ID: 23245814
    [Abstract] [Full Text] [Related]

  • 20. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.
    Inoue K.
    Neurogenetics; 2005 Feb 05; 6(1):1-16. PubMed ID: 15627202
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 10.