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Journal Abstract Search

285 related items for PubMed ID: 15285778

  • 1. Dejerine-Sottas' neuropathy caused by the missense mutation PMP22 Ser72Leu.
    Marques W, Neto JM, Barreira AA.
    Acta Neurol Scand; 2004 Sep; 110(3):196-9. PubMed ID: 15285778
    [Abstract] [Full Text] [Related]

  • 2. Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy.
    Ceuterick-de Groote C, De Jonghe P, Timmerman V, Van Goethem G, Löfgren A, Ceulemans B, Van Broeckhoven C, Martin JJ.
    Pathol Res Pract; 2001 Sep; 197(3):193-8. PubMed ID: 11314784
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  • 3. Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72.
    Marques W, Thomas PK, Sweeney MG, Carr L, Wood NW.
    Ann Neurol; 1998 May; 43(5):680-3. PubMed ID: 9585367
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  • 4. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
    Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR.
    Nat Genet; 1993 Nov; 5(3):269-73. PubMed ID: 8275092
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  • 5. Dejerine-Sottas disease and hereditary demyelinating polyneuropathy of infancy.
    Plante-Bordeneuve V, Said G.
    Muscle Nerve; 2002 Nov; 26(5):608-21. PubMed ID: 12402282
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  • 6. Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy.
    Di Muzio A, De Angelis MV, Di Fulvio P, Ratti A, Pizzuti A, Stuppia L, Gambi D, Uncini A.
    Muscle Nerve; 2003 Apr; 27(4):500-6. PubMed ID: 12661054
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  • 7. Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.
    Valentijn LJ, Ouvrier RA, van den Bosch NH, Bolhuis PA, Baas F, Nicholson GA.
    Hum Mutat; 1995 Apr; 5(1):76-80. PubMed ID: 7728152
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  • 8. Dejerine-sottas disease with a novel de novo dominant mutation, Ser 149 Arg, of the peripheral myelin protein 22.
    Ohnishi A, Yamamoto T, Izawa K, Yamamori S, Takahashi K, Mega H, Jinnai K.
    Acta Neuropathol; 2000 Mar; 99(3):327-30. PubMed ID: 10663978
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  • 9. [Hereditary neuropathy with liability to pressure palsies: study of six Spanish families].
    Pou Serradell A, Monells J, Téllez MJ, Fossas P, Löfgren A, Meuleman J, Timmerman V, De Jonghe P, Ceuterick C, Martin JJ.
    Rev Neurol (Paris); 2002 May; 158(5 Pt 1):579-88. PubMed ID: 12072826
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  • 10. Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies.
    Li J, Ghandour K, Radovanovic D, Shy RR, Krajewski KM, Shy ME, Nicholson GA.
    Arch Neurol; 2007 Jul; 64(7):974-8. PubMed ID: 17620487
    [Abstract] [Full Text] [Related]

  • 11. The range of chronic demyelinating neuropathy of infancy: a clinico-pathological and genetic study of 15 unrelated cases.
    Planté-Bordeneuve V, Parman Y, Guiochon-Mantel A, Alj Y, Deymeer F, Serdaroglu P, Eraksoy M, Said G.
    J Neurol; 2001 Sep; 248(9):795-803. PubMed ID: 11596785
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  • 14. Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice.
    Adlkofer K, Martini R, Aguzzi A, Zielasek J, Toyka KV, Suter U.
    Nat Genet; 1995 Nov; 11(3):274-80. PubMed ID: 7581450
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  • 15. Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene.
    Jen J, Baloh RH, Ishiyama A, Baloh RW.
    J Neurol Sci; 2005 Oct 15; 237(1-2):21-4. PubMed ID: 15992829
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  • 17. [A case of hereditary motor and sensory neuropathy type I with a new type of peripheral myelin protein (PMP)-22 mutation].
    Ohnishi A, Yoshimura T, Kanehisa Y, Fukushima Y.
    Rinsho Shinkeigaku; 1995 Jul 15; 35(7):788-92. PubMed ID: 8777804
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  • 18. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.
    Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Löfgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C.
    Neurology; 1999 Jun 10; 52(9):1827-32. PubMed ID: 10371530
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