BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

140 related articles for article (PubMed ID: 9425568)

  • 1. Magnetic resonance techniques in neuronal ceroid lipofuscinoses and some other lysosomal diseases affecting the brain.
    Autti T; Raininko R; Vanhanen SL; Santavuori P
    Curr Opin Neurol; 1997 Dec; 10(6):519-24. PubMed ID: 9425568
    [No Abstract]   [Full Text] [Related]  

  • 2. [Lysosomal storage diseases].
    Schulze M; Groeschel S; Gburek-Augustat J; Nägele T; Horger M
    Rofo; 2015 Dec; 187(12):1057-60. PubMed ID: 26609772
    [No Abstract]   [Full Text] [Related]  

  • 3. Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report.
    Moro F; Rubegni A; Pochiero F; Mero S; Procopio E; Baldacci J; Donati MA; Santorelli FM
    Neuromuscul Disord; 2019 Jan; 29(1):67-69. PubMed ID: 30553701
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Serial MRI findings in the Costa Rican variant of neuronal ceroid-lipofuscinosis.
    Peña JA; Cardozo JJ; Montiel CM; Molina OM; Boustany R
    Pediatr Neurol; 2001 Jul; 25(1):78-80. PubMed ID: 11483403
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A rare dementing disease: adult neuronal ceroid lipofuscinoses.
    Babacan-Yildiz G; Hanagasi H; Gurvit H; Sirin G; Solakoglu S; Kucuk OS
    J Neuropsychiatry Clin Neurosci; 2012; 24(4):493-8. PubMed ID: 23224458
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Hippocampal volumes in juvenile neuronal ceroid lipofuscinosis: a longitudinal magnetic resonance imaging study.
    Tokola AM; Salli EK; Åberg LE; Autti TH
    Pediatr Neurol; 2014 Feb; 50(2):158-63. PubMed ID: 24411222
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Workshop on the genetic and molecular basis of the neuronal ceroid lipofuscinoses. London, UK, 13-16 November 1997. Report and abstracts.
    Mole SE; Gardiner RM; Goebel HH
    Eur J Paediatr Neurol; 1998; 2(2):A1-17. PubMed ID: 10724106
    [No Abstract]   [Full Text] [Related]  

  • 8. Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes.
    Jadav RH; Sinha S; Yasha TC; Aravinda H; Gayathri N; Rao S; Bindu PS; Satishchandra P
    Pediatr Neurol; 2014 Jan; 50(1):85-95. PubMed ID: 24120650
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The monocyte-macrophage system is affected in lysosomal storage diseases: an immunoelectron microscopic study.
    Kieseier BC; Wisniewski KE; Goebel HH
    Acta Neuropathol; 1997 Oct; 94(4):359-62. PubMed ID: 9341937
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases.
    Bennett MJ; Hofmann SL
    J Inherit Metab Dis; 1999 Jun; 22(4):535-44. PubMed ID: 10407785
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Neurological aspects of ceroid-lipofuscinoses].
    Peña JA; Cardozo J; González S; Luna D
    Rev Neurol; 2000 Aug 1-15; 31(3):283-7. PubMed ID: 10996929
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders.
    Elleder M; Sokolová J; Hrebícek M
    Acta Neuropathol; 1997 Apr; 93(4):379-90. PubMed ID: 9113203
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models.
    Sohar I; Sleat DE; Jadot M; Lobel P
    J Neurochem; 1999 Aug; 73(2):700-11. PubMed ID: 10428067
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Loss of motoric function in a three-year-old boy with lysosomal storage disease].
    Schultz TS; Handrup MM
    Ugeskr Laeger; 2019 Nov; 181(45):. PubMed ID: 31791450
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Photoparoxysmal response in late infantile neuronal ceroid-lipofuscinosis.
    Naqvi SZ; Beach RL; Armao DM; Greenwood RS
    Pediatr Neurol; 1998 Nov; 19(5):395-8. PubMed ID: 9880149
    [TBL] [Abstract][Full Text] [Related]  

  • 16. MRI of neuronal ceroid lipofuscinosis. II. Postmortem MRI and histopathological study of the brain in 16 cases of neuronal ceroid lipofuscinosis of juvenile or late infantile type.
    Autti T; Raininko R; Santavuori P; Vanhanen SL; Poutanen VP; Haltia M
    Neuroradiology; 1997 May; 39(5):371-7. PubMed ID: 9189886
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Neuronal lipofuscinosis.
    Auvin S; Vallée L
    Lancet; 2004 Aug 28-Sep 3; 364(9436):786. PubMed ID: 15337405
    [No Abstract]   [Full Text] [Related]  

  • 19. Adult type of neuronal ceroid-lipofuscinosis.
    Martin JJ
    J Inherit Metab Dis; 1993; 16(2):237-40. PubMed ID: 8411969
    [No Abstract]   [Full Text] [Related]  

  • 20. Methylamine accumulation in cultured cells as a measure of the aqueous storage compartment in the laboratory diagnosis of genetic lysosomal diseases.
    Kopitz J; Harzer K; Kohlschütter A; Zöller B; Blenck N; Cantz M
    Am J Med Genet; 1996 May; 63(1):198-202. PubMed ID: 8723110
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.