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 *

123 related articles for article (PubMed ID: 3146309)

  • 41. 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]  

  • 42. Diagnosis of the neuronal ceroid lipofuscinoses: an update.
    Williams RE; Aberg L; Autti T; Goebel HH; Kohlschütter A; Lönnqvist T
    Biochim Biophys Acta; 2006 Oct; 1762(10):865-72. PubMed ID: 16930952
    [TBL] [Abstract][Full Text] [Related]  

  • 43. The problematic issue of Kufs disease diagnosis as performed on rectal biopsies: a case report.
    Pasquinelli G; Cenacchi G; Piane EL; Russo C; Aguglia U
    Ultrastruct Pathol; 2004; 28(1):43-8. PubMed ID: 14967598
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.
    Topçu M; Tan H; Yalnizoğlu D; Usubütün A; Saatçi I; Aynaci M; Anlar B; Topaloğlu H; Turanli G; Köse G; Aysun S
    Turk J Pediatr; 2004; 46(1):1-10. PubMed ID: 15074367
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Human pathology in NCL.
    Anderson GW; Goebel HH; Simonati A
    Biochim Biophys Acta; 2013 Nov; 1832(11):1807-26. PubMed ID: 23200925
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).
    Berkovic SF; Staropoli JF; Carpenter S; Oliver KL; Kmoch S; Anderson GW; Damiano JA; Hildebrand MS; Sims KB; Cotman SL; Bahlo M; Smith KR; Cadieux-Dion M; Cossette P; Jedličková I; Přistoupilová A; Mole SE;
    Neurology; 2016 Aug; 87(6):579-84. PubMed ID: 27412140
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Electron microscopic observation of tonsillar tissue as a diagnostic aid in early juvenile neuronal ceroid-lipofuscinosis.
    Kimura S; Goebel HH
    Brain Dev; 1987; 9(6):593-6. PubMed ID: 3445919
    [TBL] [Abstract][Full Text] [Related]  

  • 48. 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]  

  • 49. Diagnoses of neuronal ceroid-lipofuscinosis by immunochemical methods.
    Hosain S; Kaufmann WE; Negrin G; Watkins PA; Siakotos AN; Palmer DN; Naidu S
    Am J Med Genet; 1995 Jun; 57(2):239-45. PubMed ID: 7668338
    [TBL] [Abstract][Full Text] [Related]  

  • 50. 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]  

  • 51. Adult neuronal ceroid lipofuscinosis with clinical findings consistent with a butterfly glioma. Case report.
    Hammersen S; Brock M; Cervós-Navarro J
    J Neurosurg; 1998 Feb; 88(2):314-8. PubMed ID: 9452242
    [TBL] [Abstract][Full Text] [Related]  

  • 52. [Neuronal ceroid lipofuscinosis: clinical and neuroradiological findings].
    Gama RL; Nakayama M; Távora DG; Alvim TC; Nogueira CD; Portugal D
    Arq Neuropsiquiatr; 2007 Jun; 65(2A):320-6. PubMed ID: 17607436
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Neuronal ceroid lipofuscinoses.
    Chabrol B; Caillaud C; Minassian B
    Handb Clin Neurol; 2013; 113():1701-6. PubMed ID: 23622391
    [TBL] [Abstract][Full Text] [Related]  

  • 54. 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]  

  • 55. [Our experience with Kufs disease: familial form and sporadic case].
    Arpa J; Anciones B; Gutiérrez M; Morales C; Barreiro P; Caminero A; Alonso T; Díez E
    Neurologia; 1991; 6(6):222-7. PubMed ID: 1931103
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Autofluorescence emission spectra of neuronal lipopigment in a case of adult-onset ceroidosis (Kufs' disease).
    Dowson JH
    Acta Neuropathol; 1983; 59(4):241-5. PubMed ID: 6868957
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities.
    Wisniewski KE; Rapin I; Heaney-Kieras J
    Am J Med Genet Suppl; 1988; 5():27-46. PubMed ID: 3146325
    [TBL] [Abstract][Full Text] [Related]  

  • 58. [Ceroid-lipofuscinosis: recent notions].
    Chabrol B
    Arch Pediatr; 1997 Jul; 4(7):671-5. PubMed ID: 9295908
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Classification of the neuronal ceroid-lipofuscinoses: expansion of the atypical forms.
    Dyken P; Wisniewski K
    Am J Med Genet; 1995 Jun; 57(2):150-4. PubMed ID: 7668320
    [TBL] [Abstract][Full Text] [Related]  

  • 60. 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]  

    [Previous]   [Next]    [New Search]
    of 7.