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 *

121 related articles for article (PubMed ID: 16759889)

  • 21. 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]  

  • 22. Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs.
    Di Giacopo R; Cianetti L; Caputo V; La Torraca I; Piemonte F; Ciolfi A; Petrucci S; Carta C; Mariotti P; Leuzzi V; Valente EM; D'Amico A; Bentivoglio A; Bertini E; Tartaglia M; Zampino G
    J Neurol Sci; 2015 Sep; 356(1-2):65-71. PubMed ID: 26143525
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.
    Kmoch S; Stránecký V; Emes RD; Mitchison HM
    Biochim Biophys Acta; 2013 Nov; 1832(11):1831-41. PubMed ID: 23274885
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
    Fietz M; AlSayed M; Burke D; Cohen-Pfeffer J; Cooper JD; Dvořáková L; Giugliani R; Izzo E; Jahnová H; Lukacs Z; Mole SE; Noher de Halac I; Pearce DA; Poupetova H; Schulz A; Specchio N; Xin W; Miller N
    Mol Genet Metab; 2016 Sep; 119(1-2):160-7. PubMed ID: 27553878
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Genotype-phenotype analyses of classic neuronal ceroid lipofuscinosis (NCLs): genetic predictions from clinical and pathological findings.
    Ju W; Wronska A; Moroziewicz DN; Zhong R; Wisniewski N; Jurkiewicz A; Fiory M; Wisniewski KE; Johnston L; Brown WT; Zhong N
    Beijing Da Xue Xue Bao Yi Xue Ban; 2006 Feb; 38(1):41-8. PubMed ID: 16415965
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis.
    Salonen T; Heinonen-Kopra O; Vesa J; Jalanko A
    Mol Cell Neurosci; 2001 Aug; 18(2):131-40. PubMed ID: 11520175
    [TBL] [Abstract][Full Text] [Related]  

  • 28. From locus to cellular disturbances: positional cloning of the infantile neuronal ceroid lipofuscinosis gene.
    Hellsten E; Vesa J; Jalanko A; Peltonen L
    Neuropediatrics; 1997 Feb; 28(1):9-11. PubMed ID: 9151310
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.
    Cannelli N; Nardocci N; Cassandrini D; Morbin M; Aiello C; Bugiani M; Criscuolo L; Zara F; Striano P; Granata T; Bertini E; Simonati A; Santorelli FM
    Neuropediatrics; 2007 Feb; 38(1):46-9. PubMed ID: 17607606
    [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. Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
    O'Rawe A; Mitchison HM; Williams R; Wheeler R; Andermann E; Andermann F; Hart YM; Martin JJ; Philippart M; Stephenson JB; Gardiner RM; Mole SE
    Neuropediatrics; 1997 Feb; 28(1):21-2. PubMed ID: 9151314
    [TBL] [Abstract][Full Text] [Related]  

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

  • 33. A novel mutation of the CLN8 gene: is there a Mediterranean phenotype?
    Zelnik N; Mahajna M; Iancu TC; Sharony R; Zeigler M
    Pediatr Neurol; 2007 Jun; 36(6):411-3. PubMed ID: 17560505
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia.
    Al-Muhaizea MA; Al-Hassnan ZN; Chedrawi A
    Pediatr Neurol; 2009 Jul; 41(1):74-6. PubMed ID: 19520283
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.
    Waliany S; Das AK; Gaben A; Wisniewski KE; Hofmann SL
    Hum Mutat; 2000 Feb; 15(2):206-7. PubMed ID: 10649502
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile.
    Cismondi IA; Kohan R; Ghio A; Ramirez AM; Halac IN
    Hum Genet; 2008 Oct; 124(3):323-4. PubMed ID: 18846689
    [No Abstract]   [Full Text] [Related]  

  • 38. Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
    Aiello C; Terracciano A; Simonati A; Discepoli G; Cannelli N; Claps D; Crow YJ; Bianchi M; Kitzmuller C; Longo D; Tavoni A; Franzoni E; Tessa A; Veneselli E; Boldrini R; Filocamo M; Williams RE; Bertini ES; Biancheri R; Carrozzo R; Mole SE; Santorelli FM
    Hum Mutat; 2009 Mar; 30(3):E530-40. PubMed ID: 19177532
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Enzymatic and molecular biological analysis of palmitoyl protein thioesterase deficiency in infantile neuronal ceroid lipofuscinosis.
    Cho S; Dawson G
    J Neurochem; 1998 Jul; 71(1):323-9. PubMed ID: 9648881
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Analysis of a child with CLN1 neuronal ceroid lipofuscinosis in conjunct with Hereditary hyperferinemia cataract syndrome].
    Zhou F; Wang J; Wang Y; Li H; Su Y; Wei Y; Wang H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jan; 41(1):75-80. PubMed ID: 38171563
    [TBL] [Abstract][Full Text] [Related]  

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