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Journal Abstract Search

135 related items for PubMed ID: 4058877

  • 21. CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.
    Heimer G, Sadaka Y, Israelian L, Feiglin A, Ruggieri A, Marshall CR, Scherer SW, Ganelin-Cohen E, Marek-Yagel D, Tzadok M, Nissenkorn A, Anikster Y, Minassian BA, Zeev BB.
    J Child Neurol; 2015 Nov; 30(13):1749-56. PubMed ID: 25895915
    [Abstract] [Full Text] [Related]

  • 22.
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  • 23. Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.
    Ferré M, Caignard A, Milea D, Leruez S, Cassereau J, Chevrollier A, Amati-Bonneau P, Verny C, Bonneau D, Procaccio V, Reynier P.
    Hum Mutat; 2015 Jan; 36(1):20-5. PubMed ID: 25243597
    [Abstract] [Full Text] [Related]

  • 24. [Optic atrophy, sensorineural deafness and sensory neuropathy].
    Monge Argiles JA, Alom Poveda J, Espinosa Martínez J, Pérez Arroyo M, Roca Estelles MJ.
    Neurologia; 1994 Feb; 9(2):69-71. PubMed ID: 8204252
    [Abstract] [Full Text] [Related]

  • 25. A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome.
    Tranebjaerg L, Hamel BC, Gabreels FJ, Renier WO, Van Ghelue M.
    Eur J Hum Genet; 2000 Jun; 8(6):464-7. PubMed ID: 10878669
    [Abstract] [Full Text] [Related]

  • 26. Acquired dementia with retinitis pigmentosa.
    Grollman EM, Papacostas SS.
    J Geriatr Psychiatry Neurol; 1994 Jun; 7(1):18-22. PubMed ID: 8192825
    [Abstract] [Full Text] [Related]

  • 27.
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  • 28. [Juvenile optic atrophy with dominant inheritance].
    Werner W, Benedikt O.
    Klin Monbl Augenheilkd; 1971 Dec; 159(6):798-803. PubMed ID: 5316708
    [No Abstract] [Full Text] [Related]

  • 29.
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  • 30. The syndrome of opticoacoustic nerve atrophy with dementia.
    Jensen PK, Reske-Nielsen E, Hein-Sørensen O, Warburg M.
    Am J Med Genet; 1987 Oct; 28(2):517-8. PubMed ID: 3425626
    [No Abstract] [Full Text] [Related]

  • 31. POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
    Mancuso M, Filosto M, Bellan M, Liguori R, Montagna P, Baruzzi A, DiMauro S, Carelli V.
    Neurology; 2004 Jan 27; 62(2):316-8. PubMed ID: 14745080
    [Abstract] [Full Text] [Related]

  • 32. Four families with the dominant infantile form of optic nerve atrophy.
    Kok-van Alphen CC.
    Acta Ophthalmol (Copenh); 1970 Jan 27; 48(5):905-16. PubMed ID: 5312507
    [No Abstract] [Full Text] [Related]

  • 33. A clinicopathologic study of autosomal dominant optic atrophy.
    Johnston PB, Gaster RN, Smith VC, Tripathi RC.
    Am J Ophthalmol; 1979 Nov 27; 88(5):868-75. PubMed ID: 315716
    [Abstract] [Full Text] [Related]

  • 34. Dominant juvenile optic atrophy. A study in two families and review of hereditary disease in childhood.
    Caldwell JB, Howard RO, Riggs LA.
    Arch Ophthalmol; 1971 Feb 27; 85(2):133-47. PubMed ID: 5545713
    [No Abstract] [Full Text] [Related]

  • 35. A family with optic atrophy and congenital hearing loss.
    Amemiya T, Honda A.
    Ophthalmic Genet; 1994 Jun 27; 15(2):87-93. PubMed ID: 7850273
    [Abstract] [Full Text] [Related]

  • 36. [Chronic progressive external ophthalmoplegia (CPEO) with deleted mitochondrial DNA].
    Tanno Y, Yoneda M, Ohnishi Y, Miyatake T, Ozawa T.
    Rinsho Shinkeigaku; 1989 Sep 27; 29(9):1176-9. PubMed ID: 2598547
    [Abstract] [Full Text] [Related]

  • 37. Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report.
    Hayashida T, Saito Y, Ishii A, Hirose S, Hiraiwa R, Maegaki Y, Ohno K.
    Brain Dev; 2018 Aug 27; 40(7):576-581. PubMed ID: 29625811
    [Abstract] [Full Text] [Related]

  • 38. Calcification of the central nervous system in a new hereditary neurological syndrome.
    Reske-Nielsen E, Jensen PK, Hein-Sørensen O, Abelskov K.
    Acta Neuropathol; 1988 Aug 27; 75(6):590-6. PubMed ID: 3376762
    [Abstract] [Full Text] [Related]

  • 39. Chronic progressive external ophthalmoplegia.
    Danta G, Hilton RC, Lynch PG.
    Brain; 1975 Sep 27; 98(3):473-92. PubMed ID: 1182488
    [Abstract] [Full Text] [Related]

  • 40. A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait.
    Guala A, Germinetti V, Sebastiani F, Silengo MC.
    Clin Genet; 1992 Jun 27; 41(6):293-5. PubMed ID: 1623624
    [Abstract] [Full Text] [Related]

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