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

169 related items for PubMed ID: 16441258

  • 1. Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies.
    Vaurs-Barriere C, Bonnet-Dupeyron MN, Combes P, Gauthier-Barichard F, Reveles XT, Schiffmann R, Bertini E, Rodriguez D, Vago P, Armour JA, Saugier-Veber P, Frebourg T, Leach RJ, Boespflug-Tanguy O.
    Ann Hum Genet; 2006 Jan; 70(Pt 1):66-77. PubMed ID: 16441258
    [Abstract] [Full Text] [Related]

  • 2.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 3.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 4.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 5. A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene.
    Lee ES, Moon HK, Park YH, Garbern J, Hobson GM.
    J Neurol Sci; 2004 Sep 15; 224(1-2):83-7. PubMed ID: 15450775
    [Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7. PLP overexpression perturbs myelin protein composition and myelination in a mouse model of Pelizaeus-Merzbacher disease.
    Karim SA, Barrie JA, McCulloch MC, Montague P, Edgar JM, Kirkham D, Anderson TJ, Nave KA, Griffiths IR, McLaughlin M.
    Glia; 2007 Mar 15; 55(4):341-51. PubMed ID: 17133418
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1.
    Combes P, Bonnet-Dupeyron MN, Gauthier-Barichard F, Schiffmann R, Bertini E, Rodriguez D, Armour JA, Boespflug-Tanguy O, Vaurs-Barrière C.
    Neurogenetics; 2006 Mar 05; 7(1):31-7. PubMed ID: 16416265
    [Abstract] [Full Text] [Related]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13. 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 05; 32(3):171-9. PubMed ID: 19328639
    [Abstract] [Full Text] [Related]

  • 14. 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 Mar 05; 17(4):293-300. PubMed ID: 24519770
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease.
    Gao Q, Thurston VC, Vance GH, Dlouhy SR, Hodes ME.
    Clin Genet; 2005 Nov 05; 68(5):466-7. PubMed ID: 16207216
    [Abstract] [Full Text] [Related]

  • 18. Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.
    Lee JA, Madrid RE, Sperle K, Ritterson CM, Hobson GM, Garbern J, Lupski JR, Inoue K.
    Ann Neurol; 2006 Feb 05; 59(2):398-403. PubMed ID: 16374829
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.
    Cailloux F, Gauthier-Barichard F, Mimault C, Isabelle V, Courtois V, Giraud G, Dastugue B, Boespflug-Tanguy O.
    Eur J Hum Genet; 2000 Nov 02; 8(11):837-45. PubMed ID: 11093273
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 9.