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 *

159 related articles for article (PubMed ID: 34849271)

  • 41. Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL[Finnish]; CLN5).
    Rapola J; Lähdetie J; Isosomppi J; Helminen P; Penttinen M; Järvelä I
    Prenat Diagn; 1999 Jul; 19(7):685-8. PubMed ID: 10419622
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Unique Characteristics of the Photoparoxysmal Response in Patients With Neuronal Ceroid Lipofuscinosis Type 2: Can EEG Be a Biomarker?
    Albert DV; Yin H; De Los Reyes EC; Vidaurre J
    J Child Neurol; 2016 Nov; 31(13):1475-1482. PubMed ID: 27445018
    [TBL] [Abstract][Full Text] [Related]  

  • 43. High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.
    Jilani A; Matviychuk D; Blaser S; Dyack S; Mathieu J; Prasad AN; Prasad C; Kyriakopoulou L; Mercimek-Andrews S
    JIMD Rep; 2019 Nov; 50(1):20-30. PubMed ID: 31741823
    [TBL] [Abstract][Full Text] [Related]  

  • 44. A Case with Neonatal-onset Type 2 Neuronal Ceroid Lipofuscinosis: A Novel Mutation.
    Uygur O; Oncel MY; Gencpinar P; Guvenc MS; Dundar NO
    J Coll Physicians Surg Pak; 2020 May; 30(5):543-544. PubMed ID: 32580858
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Clinico-investigative profile of infantile and late-infantile neuronal ceroid lipofuscinoses.
    Kamate M; Prashanth GP; Hattiholi V
    Neurol India; 2012; 60(3):316-20. PubMed ID: 22824694
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan.
    Katata Y; Uematsu M; Sato H; Suzuki S; Nakayama T; Kubota Y; Kobayashi T; Hino-Fukuyo N; Saitsu H; Kure S
    Brain Dev; 2016 Mar; 38(3):341-5. PubMed ID: 26443629
    [TBL] [Abstract][Full Text] [Related]  

  • 47. 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]  

  • 48. Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus.
    Eto K; Itagaki R; Takamura A; Eto Y; Nagata S
    Mol Genet Metab Rep; 2023 Dec; 37():101019. PubMed ID: 38053925
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Neuronal ceroid-lipofuscinosis: a clinical and morphological study of 19 patients.
    Nardocci N; Verga ML; Binelli S; Zorzi G; Angelini L; Bugiani O
    Am J Med Genet; 1995 Jun; 57(2):137-41. PubMed ID: 7668317
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Cell biology of the NCL proteins: What they do and don't do.
    Cárcel-Trullols J; Kovács AD; Pearce DA
    Biochim Biophys Acta; 2015 Oct; 1852(10 Pt B):2242-55. PubMed ID: 25962910
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome.
    Appu AP; Bagh MB; Sadhukhan T; Mondal A; Casey S; Mukherjee AB
    J Inherit Metab Dis; 2019 Sep; 42(5):944-954. PubMed ID: 31025705
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.
    Craiu D; Dragostin O; Dica A; Hoffman-Zacharska D; Gos M; Bastian AE; Gherghiceanu M; Rolfs A; Nahavandi N; Craiu M; Iliescu C
    Eur J Paediatr Neurol; 2015 Jan; 19(1):78-86. PubMed ID: 25439737
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Overexpression in colorectal carcinoma of two lysosomal enzymes, CLN2 and CLN1, involved in neuronal ceroid lipofuscinosis.
    Tsukamoto T; Iida J; Dobashi Y; Furukawa T; Konishi F
    Cancer; 2006 Apr; 106(7):1489-97. PubMed ID: 16518810
    [TBL] [Abstract][Full Text] [Related]  

  • 54. 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]  

  • 55. Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog.
    Hirz M; Drögemüller M; Schänzer A; Jagannathan V; Dietschi E; Goebel HH; Hecht W; Laubner S; Schmidt MJ; Steffen F; Hilbe M; Köhler K; Drögemüller C; Herden C
    Mol Genet Metab; 2017 Mar; 120(3):269-277. PubMed ID: 28024876
    [TBL] [Abstract][Full Text] [Related]  

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

  • 57. 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]  

  • 58. Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy.
    Specchio N; Ferretti A; Trivisano M; Pietrafusa N; Pepi C; Calabrese C; Livadiotti S; Simonetti A; Rossi P; Curatolo P; Vigevano F
    Drugs; 2021 Jan; 81(1):101-123. PubMed ID: 33242182
    [TBL] [Abstract][Full Text] [Related]  

  • 59. A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis.
    Yu F; Liu XM; Chen YH; Zhang SQ; Wang K
    Neurol Sci; 2015 Oct; 36(10):1917-9. PubMed ID: 26032578
    [No Abstract]   [Full Text] [Related]  

  • 60. Biochemistry of neuronal ceroid lipofuscinoses.
    Junaid MA; Pullarkat RK
    Adv Genet; 2001; 45():93-106. PubMed ID: 11332778
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.