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Journal Abstract Search

184 related items for PubMed ID: 3827224

  • 1. Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease.
    Koeppen AH, Ronca NA, Greenfield EA, Hans MB.
    Ann Neurol; 1987 Feb; 21(2):159-70. PubMed ID: 3827224
    [Abstract] [Full Text] [Related]

  • 2. [Pelizaeus-Merzbacher disease].
    Koetsveld-Baart JC, Glaudemans-van Gelderen IE, Valk J, Barth PG.
    Ned Tijdschr Geneeskd; 1993 Nov 27; 137(48):2494-8. PubMed ID: 8272126
    [Abstract] [Full Text] [Related]

  • 3. Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.
    Gencic S, Abuelo D, Ambler M, Hudson LD.
    Am J Hum Genet; 1989 Sep 27; 45(3):435-42. PubMed ID: 2773936
    [Abstract] [Full Text] [Related]

  • 4. Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease.
    Carango P, Funanage VL, Quirós RE, Debruyn CS, Marks HG.
    Ann Neurol; 1995 Oct 27; 38(4):610-7. PubMed ID: 7574457
    [Abstract] [Full Text] [Related]

  • 5. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
    Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O.
    Nat Genet; 1994 Mar 27; 6(3):257-62. PubMed ID: 8012387
    [Abstract] [Full Text] [Related]

  • 6. Comparative immunocytochemistry of Pelizaeus-Merzbacher disease, the jimpy mouse, and the myelin-deficient rat.
    Koeppen AH, Barron KD, Csiza CK, Greenfield EA.
    J Neurol Sci; 1988 Apr 27; 84(2-3):315-27. PubMed ID: 2454299
    [Abstract] [Full Text] [Related]

  • 7. Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease.
    Yamamoto T, Nanba E, Zhang H, Sasaki M, Komaki H, Takeshita K.
    Am J Med Genet; 1998 Feb 03; 75(4):439-40. PubMed ID: 9482656
    [No Abstract] [Full Text] [Related]

  • 8. Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy: clinical and molecular studies.
    Kaye EM, Doll RF, Natowicz MR, Smith FI.
    Ann Neurol; 1994 Dec 03; 36(6):916-9. PubMed ID: 7998780
    [Abstract] [Full Text] [Related]

  • 9. A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.
    Pratt VM, Trofatter JA, Schinzel A, Dlouhy SR, Conneally PM, Hodes ME.
    Am J Med Genet; 1991 Jan 03; 38(1):136-9. PubMed ID: 1707231
    [Abstract] [Full Text] [Related]

  • 10. In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.
    Kleindorfer DO, Dlouhy SR, Pratt VM, Jones MC, Trofatter JA, Hodes ME.
    Am J Med Genet; 1995 Feb 13; 55(4):405-7. PubMed ID: 7539213
    [Abstract] [Full Text] [Related]

  • 11. Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene.
    Bond C, Si X, Crisp M, Wong P, Paulson GW, Boesel CP, Dlouhy SR, Hodes ME.
    Am J Med Genet; 1997 Aug 22; 71(3):357-60. PubMed ID: 9268109
    [Abstract] [Full Text] [Related]

  • 12. Processing of PLP in a model of Pelizaeus-Merzbacher disease/SPG2 due to the rumpshaker mutation.
    McLaughlin M, Barrie JA, Karim S, Montague P, Edgar JM, Kirkham D, Thomson CE, Griffiths IR.
    Glia; 2006 May 22; 53(7):715-22. PubMed ID: 16506223
    [Abstract] [Full Text] [Related]

  • 13. Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease.
    Ellis D, Malcolm S.
    Nat Genet; 1994 Apr 22; 6(4):333-4. PubMed ID: 7519941
    [No Abstract] [Full Text] [Related]

  • 14. Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene.
    Pratt VM, Boyadjiev S, Dlouhy SR, Silver K, Der Kaloustian VM, Hodes ME.
    Am J Med Genet; 1995 Feb 13; 55(4):402-4. PubMed ID: 7539212
    [Abstract] [Full Text] [Related]

  • 15. Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene.
    Hodes ME, DeMyer WE, Pratt VM, Edwards MK, Dlouhy SR.
    Am J Med Genet; 1995 Feb 13; 55(4):397-401. PubMed ID: 7539211
    [Abstract] [Full Text] [Related]

  • 16. Absence of cerebral myelin sheaths in a case of presumed Pelizaeus-Merzbacher disease. Electron microscopic and biochemical studies.
    Watanabe I, McCaman R, Dyken P, Zeman W.
    J Neuropathol Exp Neurol; 1969 Apr 13; 28(2):243-56. PubMed ID: 5787430
    [No Abstract] [Full Text] [Related]

  • 17. Pelizaeus-Merzbacher disease: biochemical analysis of isolated myelin (electron-microscopy; protein, lipid and unsubstituted fatty acids analysis).
    Bourre JM, Jacque C, Nguyen-Legros J, Bornhofen JH, Araoz CA, Daudu O, Baumann NA.
    Eur Neurol; 1978 Apr 13; 17(6):317-26. PubMed ID: 744198
    [Abstract] [Full Text] [Related]

  • 18. Lipophilin (PLP) gene in X-linked myelin disorders.
    Fahim S, Riordan JR.
    J Neurosci Res; 1986 Apr 13; 16(1):303-10. PubMed ID: 3746948
    [Abstract] [Full Text] [Related]

  • 19. New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease.
    Pratt VM, Trofatter JA, Larsen MB, Hodes ME, Dlouhy SR.
    Am J Med Genet; 1992 Jun 01; 43(3):642-6. PubMed ID: 1376553
    [Abstract] [Full Text] [Related]

  • 20. [Anatomo-clinical and neurochemical aspects of Pelizaeus-Merzbacher disease].
    Leclercq JP, Andersson JC, Davy JP, Lorteau P, Poilpre E.
    Encephale; 1982 Jun 01; 8(3):377-88. PubMed ID: 7186459
    [Abstract] [Full Text] [Related]

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