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 *

156 related articles for article (PubMed ID: 34126256)

  • 1. Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder.
    Helman G; Taylor LE; Walkiewicz M; Le Moing M; Eggers S; Yaplito-Lee J; Fuller M; Dabscheck G; Rodriguez-Casero V; White SM; Simons C
    Eur J Med Genet; 2021 Aug; 64(8):104259. PubMed ID: 34126256
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.
    Kohan R; Carabelos MN; Xin W; Sims K; Guelbert N; Cismondi IA; Pons P; Alonso GI; Troncoso M; Witting S; Pearce DA; Dodelson de Kremer R; Oller-Ramírez AM; Noher de Halac I
    Gene; 2013 Mar; 516(1):114-21. PubMed ID: 23266810
    [TBL] [Abstract][Full Text] [Related]  

  • 3. CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.
    Steigerwald C; Borsuk J; Pappas J; Galey M; Scott A; Devaney JM; Miller DE; Abreu NJ
    Mol Genet Metab; 2023 Dec; 140(4):107713. PubMed ID: 37922835
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
    Gardner E; Bailey M; Schulz A; Aristorena M; Miller N; Mole SE
    Hum Mutat; 2019 Nov; 40(11):1924-1938. PubMed ID: 31283065
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis.
    Wang YL; Zeng ZY; Song XW; Hao ZF; Shi YW; Tang B; Chen SQ; Gao MM; Di W; Long YS; Yi YH; Liao WP
    Neurogenetics; 2011 Feb; 12(1):93-5. PubMed ID: 20820830
    [No Abstract]   [Full Text] [Related]  

  • 6. 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]  

  • 7. An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients.
    Kohan R; Cismondi IA; Kremer RD; Muller VJ; Guelbert N; Anzolini VT; Fietz MJ; Ramírez AM; Halac IN
    Clin Genet; 2009 Oct; 76(4):372-82. PubMed ID: 19793312
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis.
    Whiting RE; Pearce JW; Castaner LJ; Jensen CA; Katz RJ; Gilliam DH; Katz ML
    Exp Eye Res; 2015 May; 134():123-32. PubMed ID: 25697710
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
    Sun Y; Almomani R; Breedveld GJ; Santen GW; Aten E; Lefeber DJ; Hoff JI; Brusse E; Verheijen FW; Verdijk RM; Kriek M; Oostra B; Breuning MH; Losekoot M; den Dunnen JT; van de Warrenburg BP; Maat-Kievit AJ
    Hum Mutat; 2013 May; 34(5):706-13. PubMed ID: 23418007
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.
    Lojewski X; Staropoli JF; Biswas-Legrand S; Simas AM; Haliw L; Selig MK; Coppel SH; Goss KA; Petcherski A; Chandrachud U; Sheridan SD; Lucente D; Sims KB; Gusella JF; Sondhi D; Crystal RG; Reinhardt P; Sterneckert J; Schöler H; Haggarty SJ; Storch A; Hermann A; Cotman SL
    Hum Mol Genet; 2014 Apr; 23(8):2005-22. PubMed ID: 24271013
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Cynomolgus macaque model of neuronal ceroid lipofuscinosis type 2 disease.
    Munesue Y; Ageyama N; Kimura N; Takahashi I; Nakayama S; Okabayashi S; Katakai Y; Koie H; Yagami KI; Ishii K; Tamaoka A; Yasutomi Y; Shimozawa N
    Exp Neurol; 2023 May; 363():114381. PubMed ID: 36918063
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile.
    Kohan R; Muller VJ; Fietz MJ; Cismondi AI; Oller Ramírez AM; Halac IN
    Hum Genet; 2008 Jun; 123(5):553. PubMed ID: 20960655
    [No Abstract]   [Full Text] [Related]  

  • 14. Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation.
    Chen ZR; Liu DT; Meng H; Liu L; Bian WJ; Liu XR; Zhu WW; He Y; Wang J; Tang B; Su T; Yi YH
    Seizure; 2019 Jul; 69():180-185. PubMed ID: 31059981
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project.
    Amadori E; Scala M; Cereda GS; Vari MS; Marchese F; Di Pisa V; Mancardi MM; Giacomini T; Siri L; Vercellino F; Serino D; Orsini A; Bonuccelli A; Bagnasco I; Papa A; Minetti C; Cordelli DM; Striano P
    Ital J Pediatr; 2020 Jul; 46(1):92. PubMed ID: 32631363
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Intraventricular Cerliponase Alfa Treatment in a Patient with Advanced Neuronal Ceroid Lipofuscinosis Type 2.
    Nakashima S; Hamada M; Kimura T; Tanifuji S; Takahashi A; Yashita D; Kakimoto Y; Matsukawa T; Ishiura H; Toda T
    Intern Med; 2024 Jun; 63(12):1807-1812. PubMed ID: 37926545
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Upregulation of tripeptidyl-peptidase 1 by 3-hydroxy-(2,2)-dimethyl butyrate, a brain endogenous ligand of PPARα: Implications for late-infantile Batten disease therapy.
    Chakrabarti S; Chandra S; Roy A; Dasarathi S; Kundu M; Pahan K
    Neurobiol Dis; 2019 Jul; 127():362-373. PubMed ID: 30928643
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses.
    Chang X; Huang Y; Meng H; Jiang Y; Wu Y; Xiong H; Wang S; Qin J
    Brain Dev; 2012 Oct; 34(9):739-45. PubMed ID: 22245569
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease.
    Lourenço CM; Sallum JMF; Pereira AM; Girotto PN; Kok F; Vilela DRF; Barron E; Pessoa A; Oliveira BM
    Arq Neuropsiquiatr; 2024 May; 82(5):1-8. PubMed ID: 38763144
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.