These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

480 related articles for article (PubMed ID: 8020979)

  • 21. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.
    Savukoski M; Klockars T; Holmberg V; Santavuori P; Lander ES; Peltonen L
    Nat Genet; 1998 Jul; 19(3):286-8. PubMed ID: 9662406
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [Muscular biopsy in ceroid lipofuscinosis: 3 case reports of juvenile form].
    Pego R; Amigo MC; Escriche D; Romero J; Navarro C
    Rev Neurol; 1995; 23(121):627-31. PubMed ID: 8597983
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Neural and extraneural expression of the neuronal ceroid lipofuscinoses genes CLN1, CLN2, and CLN3: functional implications for CLN3.
    Chattopadhyay S; Pearce DA
    Mol Genet Metab; 2000; 71(1-2):207-11. PubMed ID: 11001812
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1.
    Lerner TJ; Boustany RM; MacCormack K; Gleitsman J; Schlumpf K; Breakefield XO; Gusella JF; Haines JL
    Am J Hum Genet; 1994 Jan; 54(1):88-94. PubMed ID: 8279474
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis.
    Hellsten E; Vesa J; Speer MC; Mäkelä TP; Järvelä I; Alitalo K; Ott J; Peltonen L
    Genomics; 1993 Jun; 16(3):720-5. PubMed ID: 8325646
    [TBL] [Abstract][Full Text] [Related]  

  • 26. The neuronal ceroid-lipofuscinoses.
    Goebel HH
    J Child Neurol; 1995 Nov; 10(6):424-37. PubMed ID: 8576551
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis).
    Taschner PE; de Vos N; Post JG; Meijers-Heijboer EJ; Hofman I; Loonen MC; Pinckers AJ; Bleeker-Wagemakers EM; Gardiner RM; Breuning MH
    Am J Med Genet; 1995 Jun; 57(2):333-7. PubMed ID: 7668358
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.
    Sharp JD; Wheeler RB; Parker KA; Gardiner RM; Williams RE; Mole SE
    Hum Mutat; 2003 Jul; 22(1):35-42. PubMed ID: 12815591
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease).
    Katz ML; Shibuya H; Liu PC; Kaur S; Gao CL; Johnson GS
    J Neurosci Res; 1999 Aug; 57(4):551-6. PubMed ID: 10440905
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.
    Reinhardt K; Grapp M; Schlachter K; Brück W; Gärtner J; Steinfeld R
    Clin Genet; 2010 Jan; 77(1):79-85. PubMed ID: 19807737
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus.
    Järvelä I
    Genomics; 1991 Jun; 10(2):333-7. PubMed ID: 2071142
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease.
    Shematorova EK; Shpakovski GV
    Int J Mol Sci; 2020 Oct; 21(21):. PubMed ID: 33137890
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Mouse models of neuronal ceroid lipofuscinoses: useful pre-clinical tools to delineate disease pathophysiology and validate therapeutics.
    Shacka JJ
    Brain Res Bull; 2012 May; 88(1):43-57. PubMed ID: 22502604
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Antioxidative therapy in ceroid lipofuscinosis].
    Rotteveel JJ; Mullaart RA
    Tijdschr Kindergeneeskd; 1989 Oct; 57(5):181-6. PubMed ID: 2815055
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [Juvenile neuronal ceroid lipofuscinosis].
    Ostergaard JR; Hertz JM
    Ugeskr Laeger; 1998 Jun; 160(26):3895-900. PubMed ID: 9656828
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.
    Ranta S; Topcu M; Tegelberg S; Tan H; Ustübütün A; Saatci I; Dufke A; Enders H; Pohl K; Alembik Y; Mitchell WA; Mole SE; Lehesjoki AE
    Hum Mutat; 2004 Apr; 23(4):300-5. PubMed ID: 15024724
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Advances in the genetics of progressive myoclonus epilepsy.
    Delgado-Escueta AV; Ganesh S; Yamakawa K
    Am J Med Genet; 2001; 106(2):129-38. PubMed ID: 11579433
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs.
    Goldberg-Stern H; Halevi A; Marom D; Straussberg R; Mimouni-Bloch A
    Pediatr Neurol; 2009 Oct; 41(4):297-300. PubMed ID: 19748052
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Late-infantile neuronal ceroid lipofuscinosis (CLN2/Jansky-Bielschowsky type) in Oman.
    Koul R; Al-Futaisi A; Ganesh A; Rangnath Bushnarmuth S
    J Child Neurol; 2007 May; 22(5):555-9. PubMed ID: 17690061
    [TBL] [Abstract][Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 24.