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.
131 related articles for article (PubMed ID: 25323868)
1. Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease. Simonati A; Pezzini F; Moro F; Santorelli FM Curr Mol Med; 2014 Oct; 14(8):1043-1051. PubMed ID: 25323868 [TBL] [Abstract][Full Text] [Related]
2. Cell biology and function of neuronal ceroid lipofuscinosis-related proteins. Kollmann K; Uusi-Rauva K; Scifo E; Tyynelä J; Jalanko A; Braulke T Biochim Biophys Acta; 2013 Nov; 1832(11):1866-81. PubMed ID: 23402926 [TBL] [Abstract][Full Text] [Related]
3. A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry. Guo J; Johnson GS; Brown HA; Provencher ML; da Costa RC; Mhlanga-Mutangadura T; Taylor JF; Schnabel RD; O'Brien DP; Katz ML Mol Genet Metab; 2014 Aug; 112(4):302-9. PubMed ID: 24953404 [TBL] [Abstract][Full Text] [Related]
4. Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis. Cooper JD; Russell C; Mitchison HM Biochim Biophys Acta; 2006 Oct; 1762(10):873-89. PubMed ID: 17023146 [TBL] [Abstract][Full Text] [Related]
9. The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses. Gardner E; Mole SE Front Neurol; 2021; 12():754045. PubMed ID: 34733232 [TBL] [Abstract][Full Text] [Related]
10. Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene. Mandel H; Cohen Katsanelson K; Khayat M; Chervinsky I; Vladovski E; Iancu TC; Indelman M; Horovitz Y; Sprecher E; Shalev SA; Spiegel R Eur J Med Genet; 2014; 57(11-12):607-12. PubMed ID: 25270050 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview. Simonati A; Williams RE Front Neurol; 2022; 13():811686. PubMed ID: 35359645 [TBL] [Abstract][Full Text] [Related]
13. [Neuronal ceroid lipofuscinosis. Closing chapter of a long story]. Elleder M Cesk Patol; 2000 May; 36(2):43-59. PubMed ID: 10916928 [TBL] [Abstract][Full Text] [Related]
14. Partial genetic suppression of a loss-of-function mutant of the neuronal ceroid lipofuscinosis-associated protease TPP1 in Dictyostelium discoideum. Phillips JE; Gomer RH Dis Model Mech; 2015 Feb; 8(2):147-56. PubMed ID: 25540127 [TBL] [Abstract][Full Text] [Related]
16. A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis. Guo J; O'Brien DP; Mhlanga-Mutangadura T; Olby NJ; Taylor JF; Schnabel RD; Katz ML; Johnson GS BMC Vet Res; 2015 Jan; 10():960. PubMed ID: 25551667 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. Mutational analysis of the feline CLN3 gene and an ultrastructural evaluation of lysosomal storage materials in a cat with neuronal ceroid lipofuscinosis: an investigation into the molecular basis of the disease. Furusawa Y; Mizukami K; Yabuki A; Kuwamura M; Chang HS; Hossain MA; Rahman MM; Uddin MM; Mitani S; Yamato O Vet J; 2012 Dec; 194(3):425-8. PubMed ID: 22627044 [TBL] [Abstract][Full Text] [Related]
19. Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. Ranta S; Topcu M; Tegelberg S; Tan H; Ustübütün A; Saatci I; Dufke A; Enders H; Pohl K; Alembik Y; Mitchell WA; Mole SE; Lehesjoki AE Hum Mutat; 2004 Apr; 23(4):300-5. PubMed ID: 15024724 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]