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 *

236 related articles for article (PubMed ID: 30119717)

  • 1. Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study.
    Nickel M; Simonati A; Jacoby D; Lezius S; Kilian D; Van de Graaf B; Pagovich OE; Kosofsky B; Yohay K; Downs M; Slasor P; Ajayi T; Crystal RG; Kohlschütter A; Sondhi D; Schulz A
    Lancet Child Adolesc Health; 2018 Aug; 2(8):582-590. PubMed ID: 30119717
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa.
    Schaefers J; van der Giessen LJ; Klees C; Jacobs EH; Sieverdink S; Dremmen MHG; Spoor JKH; van der Ploeg AT; van den Hout JMP; Huidekoper HH
    Orphanet J Rare Dis; 2021 May; 16(1):221. PubMed ID: 33990214
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohort.
    Estublier B; Cano A; Hoebeke C; Pichard S; Scavarda D; Desguerre I; Auvin S; Chabrol B
    Eur J Paediatr Neurol; 2021 Jan; 30():17-21. PubMed ID: 33348105
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.
    Wibbeler E; Wang R; Reyes EL; Specchio N; Gissen P; Guelbert N; Nickel M; Schwering C; Lehwald L; Trivisano M; Lee L; Amato G; Cohen-Pfeffer J; Shediac R; Leal-Pardinas F; Schulz A
    J Child Neurol; 2021 May; 36(6):468-474. PubMed ID: 33356800
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease).
    Dulz S; Schwering C; Wildner J; Spartalis C; Schuettauf F; Bartsch U; Wibbeler E; Nickel M; Spitzer MS; Atiskova Y; Schulz A
    Br J Ophthalmol; 2023 Oct; 107(10):1478-1483. PubMed ID: 35772852
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study.
    Schulz A; Specchio N; de Los Reyes E; Gissen P; Nickel M; Trivisano M; Aylward SC; Chakrapani A; Schwering C; Wibbeler E; Westermann LM; Ballon DJ; Dyke JP; Cherukuri A; Bondade S; Slasor P; Cohen Pfeffer J
    Lancet Neurol; 2024 Jan; 23(1):60-70. PubMed ID: 38101904
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.
    Lourenço CM; Pessoa A; Mendes CC; Rivera-Nieto C; Vergara D; Troncoso M; Gardner E; Mallorens F; Tavera L; Lizcano LA; Atanacio N; Guelbert N; Specola N; Mancilla N; de Souza CFM; Mole SE
    J Paediatr Child Health; 2021 Apr; 57(4):519-525. PubMed ID: 33377563
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Study of Intraventricular Cerliponase Alfa for CLN2 Disease.
    Schulz A; Ajayi T; Specchio N; de Los Reyes E; Gissen P; Ballon D; Dyke JP; Cahan H; Slasor P; Jacoby D; Kohlschütter A;
    N Engl J Med; 2018 May; 378(20):1898-1907. PubMed ID: 29688815
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Natural History of Neuronal Ceroid Lipofuscinosis Type 6, Late Infantile Disease.
    O'Neal M; Noher de Halac I; Aylward SC; Yildiz V; Zapanta B; Abreu N; de Los Reyes E
    Pediatr Neurol; 2024 May; 154():51-57. PubMed ID: 38531163
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis?
    Nickel M; Gissen P; Greenaway R; Cappelletti S; Hamborg C; Ragni B; Ribitzki T; Schulz A; Tondo I; Specchio N
    Neuropediatrics; 2023 Dec; 54(6):402-406. PubMed ID: 37329878
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients.
    Pérez-Poyato MS; Marfa MP; Abizanda IF; Rodriguez-Revenga L; Sánchez VC; González MJ; Puñal JE; Pérez AV; González MM; Bermejo AM; Hernández EM; Rosell MJ; Gort L; Milá M
    J Child Neurol; 2013 Apr; 28(4):470-8. PubMed ID: 22832778
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Visual perception and macular integrity in non-classical CLN2 disease.
    Atiskova Y; Wildner J; Wibbeler E; Nickel M; Spitzer MS; Schwering C; Schulz A; Dulz S
    Graefes Arch Clin Exp Ophthalmol; 2022 Nov; 260(11):3693-3700. PubMed ID: 35652945
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease).
    Katz ML; Coates JR; Sibigtroth CM; Taylor JD; Carpentier M; Young WM; Wininger FA; Kennedy D; Vuillemenot BR; O'Neill CA
    J Neurosci Res; 2014 Nov; 92(11):1591-8. PubMed ID: 24938720
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Slowing late infantile Batten disease by direct brain parenchymal administration of a rh.10 adeno-associated virus expressing
    Sondhi D; Kaminsky SM; Hackett NR; Pagovich OE; Rosenberg JB; De BP; Chen A; Van de Graaf B; Mezey JG; Mammen GW; Mancenido D; Xu F; Kosofsky B; Yohay K; Worgall S; Kaner RJ; Souwedaine M; Greenwald BM; Kaplitt M; Dyke JP; Ballon DJ; Heier LA; Kiss S; Crystal RG
    Sci Transl Med; 2020 Dec; 12(572):. PubMed ID: 33268510
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A mouse model of classical late-infantile neuronal ceroid lipofuscinosis based on targeted disruption of the CLN2 gene results in a loss of tripeptidyl-peptidase I activity and progressive neurodegeneration.
    Sleat DE; Wiseman JA; El-Banna M; Kim KH; Mao Q; Price S; Macauley SL; Sidman RL; Shen MM; Zhao Q; Passini MA; Davidson BL; Stewart GR; Lobel P
    J Neurosci; 2004 Oct; 24(41):9117-26. PubMed ID: 15483130
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Natural History Studies in NCL and Their Expanding Role in Drug Development: Experiences From CLN2 Disease and Relevance for Clinical Trials.
    Nickel M; Schulz A
    Front Neurol; 2022; 13():785841. PubMed ID: 35211079
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease.
    Leal-Pardinas F; Truty R; McKnight DA; Johnson B; Morales A; Bristow SL; Yar Pang T; Cohen-Pfeffer J; Izzo E; Sankar R; Koh S; Wirrell EC; Millichap JJ; Aradhya S
    Epilepsia; 2022 Jul; 63(7):e68-e73. PubMed ID: 35474188
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Tripeptidyl peptidase 1 in patients with late infantile neuronal ceroid lipofuscinosis].
    Contreras LM; Luengo WD; Zerpa N; Hernández JC; Chávez CJ; Ferrer SG
    An Pediatr (Barc); 2012 Mar; 76(3):148-52. PubMed ID: 22100780
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.