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Journal Abstract Search

186 related items for PubMed ID: 8780101

  • 1. Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.
    Cambi F, Tang XM, Cordray P, Fain PR, Keppen LD, Barker DF.
    Neurology; 1996 Apr; 46(4):1112-7. PubMed ID: 8780101
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  • 3. 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; 6(3):257-62. PubMed ID: 8012387
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  • 4. 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; 8(11):837-45. PubMed ID: 11093273
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  • 5. X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.
    Bonneau D, Rozet JM, Bulteau C, Berthier M, Mettey R, Gil R, Munnich A, Le Merrer M.
    J Med Genet; 1993 May; 30(5):381-4. PubMed ID: 8320699
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  • 6. Molecular genetics of familial spastic paraplegia: a multitude of responsible genes.
    Kobayashi H, Garcia CA, Alfonso G, Marks HG, Hoffman EP.
    J Neurol Sci; 1996 May; 137(2):131-8. PubMed ID: 8782167
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  • 7. Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).
    Hodes ME, Zimmerman AW, Aydanian A, Naidu S, Miller NR, Garcia Oller JL, Barker B, Aleck KA, Hurley TD, Dlouhy SR.
    Am J Med Genet; 1999 Jan 15; 82(2):132-9. PubMed ID: 9934976
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  • 8. Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
    Hobson GM, Davis AP, Stowell NC, Kolodny EH, Sistermans EA, de Coo IF, Funanage VL, Marks HG.
    Neurology; 2000 Oct 24; 55(8):1089-96. PubMed ID: 11071483
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  • 9. A novel PLP1 mutation further expands the clinical heterogeneity at the locus.
    Hand CK, Bernard G, Dubé MP, Shevell MI, Rouleau GA.
    Can J Neurol Sci; 2012 Mar 24; 39(2):220-4. PubMed ID: 22343157
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  • 10. Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members.
    Sivakumar K, Sambuughin N, Selenge B, Nagle JW, Baasanjav D, Hudson LD, Goldfarb LG.
    Ann Neurol; 1999 May 24; 45(5):680-3. PubMed ID: 10319897
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  • 11. A novel mutation in PLP1 causes severe hereditary spastic paraplegia type 2.
    Noetzli L, Sanz PG, Brodsky GL, Hinckley JD, Giugni JC, Giannaula RJ, Gonzalez-Alegre P, Di Paola J.
    Gene; 2014 Jan 01; 533(1):447-50. PubMed ID: 24103481
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  • 12. Unusual clinical and magnetic resonance imaging findings in a family with proteolipid protein gene mutation.
    Battini R, Bianchi MC, Boespflug-Tanguy O, Tosetti M, Bonanni P, Canapicchi R, Cioni G.
    Arch Neurol; 2003 Feb 01; 60(2):268-72. PubMed ID: 12580714
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  • 13. Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males.
    Osaka H, Kawanishi C, Inoue K, Uesugi H, Hiroshi K, Nishiyama K, Yamada Y, Suzuki K, Kimura S, Kosaka K.
    Biochem Biophys Res Commun; 1995 Oct 24; 215(3):835-41. PubMed ID: 7488049
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  • 14. Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant.
    Trofatter JA, Dlouhy SR, DeMyer W, Conneally PM, Hodes ME.
    Proc Natl Acad Sci U S A; 1989 Dec 24; 86(23):9427-30. PubMed ID: 2480601
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  • 15. 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 Dec 24; 17(4):293-300. PubMed ID: 24519770
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  • 17. 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 24; 29(8):1028-36. PubMed ID: 18470932
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  • 18. Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease.
    Hodes ME, Blank CA, Pratt VM, Morales J, Napier J, Dlouhy SR.
    Am J Med Genet; 1997 Mar 17; 69(2):121-5. PubMed ID: 9056547
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  • 20. 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
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