395 related articles for article (PubMed ID: 21235444)
1. Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.
Kohan R; Cismondi IA; Oller-Ramirez AM; Guelbert N; Anzolini TV; Alonso G; Mole SE; de Kremer DR; de Halac NI
Curr Pharm Biotechnol; 2011 Jun; 12(6):867-83. PubMed ID: 21235444
[TBL] [Abstract][Full Text] [Related]
2. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M; Lehesjoki AE; Mole SE
Hum Mutat; 2012 Jan; 33(1):42-63. PubMed ID: 21990111
[TBL] [Abstract][Full Text] [Related]
3. Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations.
Panjeshahi S; Karimzadeh P; Movafagh A; Ahmadabadi F; Rahimian E; Alijanpour S; Miryounesi M
Hum Genet; 2023 Aug; 142(8):1001-1016. PubMed ID: 37074398
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
Kousi M; Siintola E; Dvorakova L; Vlaskova H; Turnbull J; Topcu M; Yuksel D; Gokben S; Minassian BA; Elleder M; Mole SE; Lehesjoki AE
Brain; 2009 Mar; 132(Pt 3):810-9. PubMed ID: 19201763
[TBL] [Abstract][Full Text] [Related]
6. Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis.
Huber RJ
J Biomed Sci; 2016 Nov; 23(1):83. PubMed ID: 27881166
[TBL] [Abstract][Full Text] [Related]
7. Neuronal ceroid lipofuscinoses: classification and diagnosis.
Wisniewski KE; Kida E; Golabek AA; Kaczmarski W; Connell F; Zhong N
Adv Genet; 2001; 45():1-34. PubMed ID: 11332767
[TBL] [Abstract][Full Text] [Related]
8. Advances in the Treatment of Neuronal Ceroid Lipofuscinosis.
Rosenberg JB; Chen A; Kaminsky SM; Crystal RG; Sondhi D
Expert Opin Orphan Drugs; 2019; 7(11):473-500. PubMed ID: 33365208
[TBL] [Abstract][Full Text] [Related]
9. The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease.
Weimer JM; Kriscenski-Perry E; Elshatory Y; Pearce DA
Neuromolecular Med; 2002; 1(2):111-24. PubMed ID: 12025857
[TBL] [Abstract][Full Text] [Related]
10. Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.
Sima N; Li R; Huang W; Xu M; Beers J; Zou J; Titus S; Ottinger EA; Marugan JJ; Xie X; Zheng W
Orphanet J Rare Dis; 2018 Apr; 13(1):54. PubMed ID: 29631617
[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. New mutations in the neuronal ceroid lipofuscinosis genes.
Mole SE; Zhong NA; Sarpong A; Logan WP; Hofmann S; Yi W; Franken PF; van Diggelen OP; Breuning MH; Moroziewicz D; Ju W; Salonen T; Holmberg V; Järvelä I; Taschner PE
Eur J Paediatr Neurol; 2001; 5 Suppl A():7-10. PubMed ID: 11589012
[TBL] [Abstract][Full Text] [Related]
13. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.
Mole SE; Williams RE; Goebel HH
Neurogenetics; 2005 Sep; 6(3):107-26. PubMed ID: 15965709
[TBL] [Abstract][Full Text] [Related]
14. Enzyme replacement therapy with recombinant pro-CTSD (cathepsin D) corrects defective proteolysis and autophagy in neuronal ceroid lipofuscinosis.
Marques ARA; Di Spiezio A; Thießen N; Schmidt L; Grötzinger J; Lüllmann-Rauch R; Damme M; Storck SE; Pietrzik CU; Fogh J; Bär J; Mikhaylova M; Glatzel M; Bassal M; Bartsch U; Saftig P
Autophagy; 2020 May; 16(5):811-825. PubMed ID: 31282275
[TBL] [Abstract][Full Text] [Related]
15. Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies.
Getty AL; Rothberg PG; Pearce DA
Expert Opin Med Diagn; 2007 Nov; 1(3):351-62. PubMed ID: 23489355
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Pheno/genotypic correlations of neuronal ceroid lipofuscinoses.
Wisniewski KE; Zhong N; Philippart M
Neurology; 2001 Aug; 57(4):576-81. PubMed ID: 11548735
[TBL] [Abstract][Full Text] [Related]
18. 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]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]