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Journal Abstract Search

782 related items for PubMed ID: 8576551

  • 1. The neuronal ceroid-lipofuscinoses.
    Goebel HH.
    J Child Neurol; 1995 Nov; 10(6):424-37. PubMed ID: 8576551
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  • 2. Human pathology in NCL.
    Anderson GW, Goebel HH, Simonati A.
    Biochim Biophys Acta; 2013 Nov; 1832(11):1807-26. PubMed ID: 23200925
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  • 3. Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect.
    de los Reyes E, Dyken PR, Phillips P, Brodsky M, Bates S, Glasier C, Mrak RE.
    J Child Neurol; 2004 Jan; 19(1):42-6. PubMed ID: 15032383
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  • 4. A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjögren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16.
    Williams R, Santavuori P, Peltonen L, Gardiner RM, Järvelä I.
    Genomics; 1994 Mar 15; 20(2):289-90. PubMed ID: 8020979
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Mole SE, Williams RE.
    ; 1993 Mar 15. PubMed ID: 20301601
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  • 8. Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis.
    Sharp J, Savukoski M, Wheeler RB, Harris J, Järvelä I, Peltonen L, Gardiner M, Williams R.
    Am J Med Genet; 1995 Jun 05; 57(2):348-9. PubMed ID: 7668361
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  • 10. Atypical late infantile and juvenile forms of neuronal ceroid lipofuscinosis and their diagnostic difficulties.
    Wiśniewski KE, Zhong N, Kida E, Kaczmarski W, Kaczmarski A, Connell F, Brooks SS, Brown WT.
    Folia Neuropathol; 1997 Jun 05; 35(2):73-9. PubMed ID: 9377079
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  • 12. Molecular genetics of the neuronal ceroid lipofuscinoses.
    Mole S, Gardiner M.
    Epilepsia; 1999 Jun 05; 40 Suppl 3():29-32. PubMed ID: 10446748
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  • 13. Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes.
    Williams R, Vesa J, Järvelä I, McKay T, Mitchison H, Hellsten E, Thompson A, Callen D, Sutherland G, Luna-Battadano D.
    Am J Hum Genet; 1993 Oct 05; 53(4):931-5. PubMed ID: 8213822
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  • 19. Accumulation of sphingolipid activator proteins (SAPs) A and D in granular osmiophilic deposits in miniature Schnauzer dogs with ceroid-lipofuscinosis.
    Palmer DN, Tyynelä J, van Mil HC, Westlake VJ, Jolly RD.
    J Inherit Metab Dis; 1997 Mar 05; 20(1):74-84. PubMed ID: 9061571
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