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Journal Abstract Search

127 related items for PubMed ID: 7537189

  • 1. [A familial Charcot-Marie-Tooth disease type 1B (CMTD1B) manifesting a new mutation of myelin P0 gene].
    Mitsui Y, Matsui T, Nakamura Y, Takahashi M, Yoshikawa H, Hayasaka K.
    Rinsho Shinkeigaku; 1994 Nov; 34(11):1162-7. PubMed ID: 7537189
    [Abstract] [Full Text] [Related]

  • 2. [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; 35(7):788-92. PubMed ID: 8777804
    [Abstract] [Full Text] [Related]

  • 3. [A family of X-linked motor and sensory neuropathy with a new type of connexin32 mutation].
    Ohnishi A, Yoshimura T, Takazawa A, Hashimoto T, Yamamoto T, Fukushima Y.
    Rinsho Shinkeigaku; 1995 Aug; 35(8):843-9. PubMed ID: 8665724
    [Abstract] [Full Text] [Related]

  • 4. [A family of hereditary motor and sensory neuropathy type I with a new type of myelin P0 mutation].
    Ohnishi A, Ohnari K, Hashimoto T, Hayasaka K, Yoshimura T, Fukushima Y.
    Rinsho Shinkeigaku; 1994 Jun; 34(6):546-51. PubMed ID: 7525134
    [Abstract] [Full Text] [Related]

  • 5. [A case of Charcot-Marie-Tooth disease 1 B with Val 146Phe mutation of myelin protein zero showing a severe clinical phenotype].
    Ohnishi A, Aoki A, Yamamoto T, Tsuji S.
    Rinsho Shinkeigaku; 2000 Mar; 40(3):268-70. PubMed ID: 10885340
    [Abstract] [Full Text] [Related]

  • 6. Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study.
    Bird TD, Kraft GH, Lipe HP, Kenney KL, Sumi SM.
    Ann Neurol; 1997 Apr; 41(4):463-9. PubMed ID: 9124803
    [Abstract] [Full Text] [Related]

  • 7. [An unusual case of peroneal muscular atrophy with rigidity, polyneuropathy, mental retardation, and diabetes mellitus developed in familial Parkinson's disease].
    Saito T, Hosoda M, Aoto K, Hasegawa H, Kowa H.
    Rinsho Shinkeigaku; 1995 Aug; 35(8):878-83. PubMed ID: 8665730
    [Abstract] [Full Text] [Related]

  • 8. Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.
    Seeman P, Mazanec R, Ctvrtecková M, Smilková D.
    Int J Mol Med; 2001 Oct; 8(4):461-8. PubMed ID: 11562788
    [Abstract] [Full Text] [Related]

  • 9. New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1.
    Himoro M, Yoshikawa H, Matsui T, Mitsui Y, Takahashi M, Kaido M, Nishimura T, Sawaishi Y, Takada G, Hayasaka K.
    Biochem Mol Biol Int; 1993 Sep; 31(1):169-73. PubMed ID: 7505151
    [Abstract] [Full Text] [Related]

  • 10. [A case of hereditary motor and sensory neuropathy type I with optic atrophy, neural deafness and pyramidal tract signs].
    Saito T, Nishioka M, Ogino M, Endo K, Kowa H.
    Rinsho Shinkeigaku; 1993 May; 33(5):519-24. PubMed ID: 8365058
    [Abstract] [Full Text] [Related]

  • 11. Congenital pes cavus in a Charcot-Marie-tooth disease type 1A newborn.
    Fusco C, Frattini D, Scarano A, Giustina ED.
    Pediatr Neurol; 2009 Jun; 40(6):461-4. PubMed ID: 19433282
    [Abstract] [Full Text] [Related]

  • 12. [Roussy-Lévy syndrome with a duplication on peripheral myelin protein gene (PMP22)].
    Wake Y, Kanzaki A, Shirabe T.
    Rinsho Shinkeigaku; 2000 Jul; 40(7):750-2. PubMed ID: 11186918
    [Abstract] [Full Text] [Related]

  • 13. Rare myelin protein zero sequence variant in late onset CMT1B.
    Souayah N, Seltzer WK, Brannagan TH, Chin RL, Sander HW.
    J Neurol Sci; 2007 Dec 15; 263(1-2):177-9. PubMed ID: 17602703
    [Abstract] [Full Text] [Related]

  • 14. [Phenotypic heterogeneity in Japanese Charcot-Marie-Tooth disease type 1A patients with PMP-22 gene duplication].
    Yamamoto M, Sobue G, Yasuda T, Yamamoto K, Kumazawa K, Mitsuma T.
    Rinsho Shinkeigaku; 1995 Oct 15; 35(10):1085-91. PubMed ID: 8821490
    [Abstract] [Full Text] [Related]

  • 15. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
    Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN.
    Arch Neurol; 2007 Jul 15; 64(7):966-70. PubMed ID: 17620486
    [Abstract] [Full Text] [Related]

  • 16. [A patient of Charcot-Marie-tooth disease with rigid spine and respiratory failure].
    Takamure M, Nakamuro T, Sugie K, Suzumura A, Takayanagi T.
    Rinsho Shinkeigaku; 2000 May 15; 40(5):433-8. PubMed ID: 11002724
    [Abstract] [Full Text] [Related]

  • 17. Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.
    Roa BB, Greenberg F, Gunaratne P, Sauer CM, Lubinsky MS, Kozma C, Meck JM, Magenis RE, Shaffer LG, Lupski JR.
    Hum Genet; 1996 May 15; 97(5):642-9. PubMed ID: 8655146
    [Abstract] [Full Text] [Related]

  • 18. [A family of hereditary motor and sensory neuropathy type I with a mutation (Arg98-->His) in myelin Po--report on a second Japanese family].
    Ohnishi A, Kashiwada E, Hashimoto T, Yamamoto T, Murai Y, Ohashi H, Ikegami T, Hayasaka K, Sudo K, Yamamori S.
    J UOEH; 1996 Mar 01; 18(1):19-29. PubMed ID: 8851708
    [Abstract] [Full Text] [Related]

  • 19. Nerve conduction abnormalities and neuromyotonia in genetically engineered mouse models of human hereditary neuropathies.
    Zielasek J, Toyka KV.
    Ann N Y Acad Sci; 1999 Sep 14; 883():310-20. PubMed ID: 10586256
    [Abstract] [Full Text] [Related]

  • 20. [A pedigree of Charcot-Marie-Tooth disease type 4F (Periaxin mutation)].
    Shimohata M, Hirahara K, Igarashi S, Hara K, Kijima K, Onodera O, Tanaka K, Nishizawa M, Tsuji S, Hayasaka K.
    Rinsho Shinkeigaku; 2005 Mar 14; 45(3):221-5. PubMed ID: 15835292
    [Abstract] [Full Text] [Related]

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