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Journal Abstract Search

191 related items for PubMed ID: 8851708

  • 1. [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]

  • 2. [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 01; 35(8):843-9. PubMed ID: 8665724
    [Abstract] [Full Text] [Related]

  • 3. [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 01; 34(6):546-51. PubMed ID: 7525134
    [Abstract] [Full Text] [Related]

  • 4. [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 01; 35(7):788-92. PubMed ID: 8777804
    [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 01; 40(3):268-70. PubMed ID: 10885340
    [Abstract] [Full Text] [Related]

  • 6. Myelinated fibers in Charcot-Marie-Tooth disease type 1B with Arg98His mutation of Po protein.
    Ohnishi A, Yamamoto T, Yamamori S, Sudo K, Fukushima Y, Ikeda M.
    J Neurol Sci; 1999 Dec 15; 171(2):97-109. PubMed ID: 10581375
    [Abstract] [Full Text] [Related]

  • 7. [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 15; 34(11):1162-7. PubMed ID: 7537189
    [Abstract] [Full Text] [Related]

  • 8. De novo mutation (Arg98-->Cys) of the myelin P0 gene and uncompaction of the major dense line of the myelin sheath in a severe variant of Charcot-Marie-Tooth disease type 1B.
    Komiyama A, Ohnishi A, Izawa K, Yamamori S, Ohashi H, Hasegawa O.
    J Neurol Sci; 1997 Jul 15; 149(1):103-9. PubMed ID: 9168174
    [Abstract] [Full Text] [Related]

  • 9. Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family.
    Leal A, Berghoff C, Berghoff M, Del Valle G, Contreras C, Montoya O, Hernández E, Barrantes R, Schlötzer-Schrehardt U, Neundörfer B, Reis A, Rautenstrauss B, Heuss D.
    Neurogenetics; 2003 Aug 15; 4(4):191-7. PubMed ID: 12845552
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. [A family of hereditary motor and sensory neuropathy type 1B showing a marked difference of neurological disability score among affected family members].
    Ohnishi A, Yamamoto T, Kikuchi K.
    J UOEH; 1999 Jun 01; 21(2):149-56. PubMed ID: 10434362
    [Abstract] [Full Text] [Related]

  • 12. [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 01; 33(5):519-24. PubMed ID: 8365058
    [Abstract] [Full Text] [Related]

  • 13. [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 01; 35(8):878-83. PubMed ID: 8665730
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 41(4):463-9. PubMed ID: 9124803
    [Abstract] [Full Text] [Related]

  • 15. [Two families of Charcot-Marie-Tooth disease with Adie's pupil, axonal neuropahy and the Thr124Met mutation in the peripheral myelin protein zero gene].
    Misu K, Yoshihara T, Yamamoto M, Hattori N, Nagamatu M, Mukai E, Takegami T, Sobue G.
    Rinsho Shinkeigaku; 2000 Feb 01; 40(2):149-54. PubMed ID: 10835936
    [Abstract] [Full Text] [Related]

  • 16. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases.
    Birouk N, Gouider R, Le Guern E, Gugenheim M, Tardieu S, Maisonobe T, Le Forestier N, Agid Y, Brice A, Bouche P.
    Brain; 1997 May 01; 120 ( Pt 5)():813-23. PubMed ID: 9183252
    [Abstract] [Full Text] [Related]

  • 17. [Novel mutation in X-linked Charcot-Marie-tooth (CMTXI) disease associated with central conduction slowing on brainstem auditory evoked potential (BAEP)].
    Akimoto C, Morita M, Yamamoto M, Nakano I.
    Rinsho Shinkeigaku; 2010 Jun 01; 50(6):399-403. PubMed ID: 20593665
    [Abstract] [Full Text] [Related]

  • 18. Adult-onset demyelinating neuropathy associated with FBLN5 gene mutation.
    Cheng S, Lv H, Zhang W, Wang Z, Shi X, Liang W, Yuan Y.
    Clin Neuropathol; 2017 Jun 01; 36(4):171-177. PubMed ID: 28332470
    [Abstract] [Full Text] [Related]

  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. [A case of hereditary motor and sensory neuropathy with pyramidal tract sign, optic nerve atrophy and mental retardation].
    Adachi T, Imaoka K, Shirasawa A, Yamaguchi S, Kobayashi S.
    Rinsho Shinkeigaku; 1998 Dec 10; 38(12):1037-41. PubMed ID: 10349345
    [Abstract] [Full Text] [Related]

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