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Journal Abstract Search

167 related items for PubMed ID: 9055797

  • 1. Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome.
    Tyson J, Ellis D, Fairbrother U, King RH, Muntoni F, Jacobs J, Malcolm S, Harding AE, Thomas PK.
    Brain; 1997 Jan; 120 ( Pt 1)():47-63. PubMed ID: 9055797
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family.
    Quattrone A, Gambardella A, Bono F, Aguglia U, Bolino A, Bruni AC, Montesi MP, Oliveri RL, Sabatelli M, Tamburrini O, Valentino P, Van Broeckhoven C, Zappia M.
    Neurology; 1996 May; 46(5):1318-24. PubMed ID: 8628474
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  • 6. Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22.
    Simonati A, Fabrizi GM, Pasquinelli A, Taioli F, Cavallaro T, Morbin M, Marcon G, Papini M, Rizzuto N.
    Neuromuscul Disord; 1999 Jun; 9(4):257-61. PubMed ID: 10399754
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  • 8. Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.
    Parman Y, Planté-Bordeneuve V, Guiochon-Mantel A, Eraksoy M, Said G.
    Ann Neurol; 1999 Apr; 45(4):518-22. PubMed ID: 10211478
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  • 9. A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B.
    Fabrizi GM, Ferrarini M, Cavallaro T, Jarre L, Polo A, Rizzuto N.
    Neurology; 2001 Jul 10; 57(1):101-5. PubMed ID: 11445635
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  • 10. Phenotypic clustering in MPZ mutations.
    Shy ME, Jáni A, Krajewski K, Grandis M, Lewis RA, Li J, Shy RR, Balsamo J, Lilien J, Garbern JY, Kamholz J.
    Brain; 2004 Feb 10; 127(Pt 2):371-84. PubMed ID: 14711881
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  • 11. Severe demyelinating hypertrophic polyneuropathy caused by a de novo frameshift mutation within the intracellular domain of myelin protein zero (MPZ/P0).
    Zschüntzsch J, Dibaj P, Pilgram S, Kötting J, Gerding WM, Neusch C.
    J Neurol Sci; 2009 Jun 15; 281(1-2):113-5. PubMed ID: 19344920
    [Abstract] [Full Text] [Related]

  • 12. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ.
    Acta Neurol Scand Suppl; 2012 Jun 15; (193):iv-22. PubMed ID: 23106488
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  • 13. Inherited peripheral neuropathy.
    Keller MP, Chance PF.
    Semin Neurol; 1999 Jun 15; 19(4):353-62. PubMed ID: 10716658
    [Abstract] [Full Text] [Related]

  • 14. PMP22 related congenital hypomyelination neuropathy.
    Fabrizi GM, Simonati A, Taioli F, Cavallaro T, Ferrarini M, Rigatelli F, Pini A, Mostacciuolo ML, Rizzuto N.
    J Neurol Neurosurg Psychiatry; 2001 Jan 15; 70(1):123-6. PubMed ID: 11118262
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  • 15. [Mutation of the myelin Po gene in hereditary motor and sensory neuropathy].
    Hayasaka K.
    Rinsho Shinkeigaku; 1995 Dec 15; 35(12):1444-6. PubMed ID: 8752425
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  • 16. Congenital hypomyelinating neuropathy: two patients with long-term follow-up.
    Phillips JP, Warner LE, Lupski JR, Garg BP.
    Pediatr Neurol; 1999 Mar 15; 20(3):226-32. PubMed ID: 10207934
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  • 17. A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients.
    Silander K, Meretoja P, Nelis E, Timmerman V, Van Broeckhoven C, Aula P, Savontaus ML.
    Hum Mutat; 1996 Mar 15; 8(4):304-10. PubMed ID: 8956034
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  • 18. Dejerine-Sottas' neuropathy caused by the missense mutation PMP22 Ser72Leu.
    Marques W, Neto JM, Barreira AA.
    Acta Neurol Scand; 2004 Sep 15; 110(3):196-9. PubMed ID: 15285778
    [Abstract] [Full Text] [Related]

  • 19. Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome.
    Stögbauer F, Young P, Wiebusch H, Timmerman V, Kuhlenbäumer G, Nelis E, Ringelstein EB, Kurlemann G, Assmann G, Van Broeckhoven C, Funke H.
    Neurosci Lett; 1998 Jan 02; 240(1):1-4. PubMed ID: 9488160
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  • 20. [Molecular genetics of inherited neuropathies].
    Takashima H.
    Rinsho Shinkeigaku; 2006 Jan 02; 46(1):1-18. PubMed ID: 16541790
    [Abstract] [Full Text] [Related]

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