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Journal Abstract Search

107 related items for PubMed ID: 2665489

  • 1. Optic atrophy, hearing loss, and peripheral neuropathy.
    Hagemoser K, Weinstein J, Bresnick G, Nellis R, Kirkpatrick S, Pauli RM.
    Am J Med Genet; 1989 May; 33(1):61-5. PubMed ID: 2665489
    [Abstract] [Full Text] [Related]

  • 2. [Dominant infantile optic nerve atrophy].
    Szedélyová L, Vaisová Z.
    Cesk Oftalmol; 1989 Nov; 45(6):440-4. PubMed ID: 2605661
    [Abstract] [Full Text] [Related]

  • 3. Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13.
    Macedo-Souza LI, Kok F, Santos S, Amorim SC, Starling A, Nishimura A, Lezirovitz K, Lino AM, Zatz M.
    Ann Neurol; 2005 May; 57(5):730-7. PubMed ID: 15852396
    [Abstract] [Full Text] [Related]

  • 4. [Peroneal muscle atrophy with talipes cavus. Pyramidal symptoms and sensory disorders in one family. On the problem of the nosological classification of hereditary spinal diseases and polyneuropathies].
    Schnider A, Hess CW, Meier C.
    Schweiz Med Wochenschr; 1990 Nov 24; 120(47):1755-62. PubMed ID: 2255880
    [Abstract] [Full Text] [Related]

  • 5. Familial Behr syndrome-like phenotype with autosomal dominant inheritance.
    Felicio AC, Godeiro-Junior C, Alberto LG, Pinto AP, Sallum JM, Teive HG, Barsottini OG.
    Parkinsonism Relat Disord; 2008 Nov 24; 14(4):370-2. PubMed ID: 17977780
    [Abstract] [Full Text] [Related]

  • 6. [A Mitochondrial mutation defect is identified in Leber's hereditary optic neuropathy].
    Ehinger B.
    Lakartidningen; 1989 Mar 29; 86(13):1161. PubMed ID: 2704272
    [No Abstract] [Full Text] [Related]

  • 7. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
    Ferré M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H, Ayuso C, Defoort S, Vignal C, Zanlonghi X, Charlin JF, Kaplan J, Odent S, Hamel CP, Procaccio V, Reynier P, Amati-Bonneau P.
    Hum Mutat; 2009 Jul 29; 30(7):E692-705. PubMed ID: 19319978
    [Abstract] [Full Text] [Related]

  • 8. Late-onset hereditary axonal neuropathies.
    Bennett CL, Lawson VH, Brickell KL, Isaacs K, Seltzer W, Lipe HP, Weiss MD, Carter GT, Flanigan KM, Chance PF, Bird TD.
    Neurology; 2008 Jul 01; 71(1):14-20. PubMed ID: 18495953
    [Abstract] [Full Text] [Related]

  • 9. Clinical features of Japanese Leber's hereditary optic neuropathy with 11778 mutation of mitochondrial DNA.
    Hotta Y, Fujiki K, Hayakawa M, Nakajima A, Kanai A, Mashima Y, Hiida Y, Shinoda K, Yamada K, Oguchi Y.
    Jpn J Ophthalmol; 1995 Jul 01; 39(1):96-108. PubMed ID: 7643491
    [Abstract] [Full Text] [Related]

  • 10. [Clinical manifestation and molecular identification of patients with Leber's hereditary optic neuropathy in a national reference center for neuro-ophthalmology in Cuba].
    Santiesteban-Freixas R, Rodríguez-Hernández M, Mendoza-Santiesteban CE, Carrero-Salgado M, Francisco-Plasencia M, Méndez-Larramendi I, Vidal-Casalís S, Rivero-Reyes R, Hirano M.
    Rev Neurol; 1995 Jul 01; 29(5):408-15. PubMed ID: 10584242
    [Abstract] [Full Text] [Related]

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  • 12. [Genetically determinded deafness; 5 cases of Pendred's syndrome (author's transl)].
    Hörmann K, Held KR.
    HNO; 1980 Jun 01; 28(6):206-8. PubMed ID: 6253416
    [Abstract] [Full Text] [Related]

  • 13. Autosomal dominant optic atrophy with asymptomatic peripheral neuropathy.
    Chalmers RM, Bird AC, Harding AE.
    J Neurol Neurosurg Psychiatry; 1996 Feb 01; 60(2):195-6. PubMed ID: 8708653
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  • 16. Association of the LHON 13,708 and 15,257 mitochondrial DNA mutations with neurodegenerative diseases distinct from LHON.
    Rödel G, Laubhan R, Scheuerle A, Skowronek P, Haferkamp O.
    Eur J Med Res; 1996 Jul 25; 1(10):491-4. PubMed ID: 9438147
    [Abstract] [Full Text] [Related]

  • 17. Autosomal recessive inheritance of hereditary motor and sensory neuropathy with optic atrophy.
    Chalmers RM, Riordan-Eva P, Wood NW.
    J Neurol Neurosurg Psychiatry; 1997 Apr 25; 62(4):385-7. PubMed ID: 9120454
    [Abstract] [Full Text] [Related]

  • 18. Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in the WFS1 gene.
    Valéro R, Bannwarth S, Roman S, Paquis-Flucklinger V, Vialettes B.
    Diabet Med; 2008 Jun 25; 25(6):657-61. PubMed ID: 18544103
    [Abstract] [Full Text] [Related]

  • 19. Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis.
    Chen JD, Cox I, Denton MJ.
    Hum Genet; 1989 Jun 25; 82(3):203-7. PubMed ID: 2731932
    [Abstract] [Full Text] [Related]

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