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Items: 1 to 20 of 263

1.

Cerliponase Alfa: First Global Approval.

Markham A.

Drugs. 2017 Jul;77(11):1247-1249. doi: 10.1007/s40265-017-0771-8. Review.

PMID:
28589525
2.

Management Strategies for CLN2 Disease.

Williams RE, Adams HR, Blohm M, Cohen-Pfeffer JL, de Los Reyes E, Denecke J, Drago K, Fairhurst C, Frazier M, Guelbert N, Kiss S, Kofler A, Lawson JA, Lehwald L, Leung MA, Mikhaylova S, Mink JW, Nickel M, Shediac R, Sims K, Specchio N, Topcu M, von Löbbecke I, West A, Zernikow B, Schulz A.

Pediatr Neurol. 2017 Apr;69:102-112. doi: 10.1016/j.pediatrneurol.2017.01.034. Epub 2017 Feb 4. Review.

3.

Inherited diseases caused by mutations in cathepsin protease genes.

Ketterer S, Gomez-Auli A, Hillebrand LE, Petrera A, Ketscher A, Reinheckel T.

FEBS J. 2017 May;284(10):1437-1454. doi: 10.1111/febs.13980. Epub 2017 Jan 12. Review.

PMID:
27926992
5.

Neuronal ceroid lipofuscinoses.

Nita DA, Mole SE, Minassian BA.

Epileptic Disord. 2016 Sep 1;18(S2):73-88. Review.

PMID:
27629553
6.

CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).

Kohlschütter A, Schulz A.

Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:682-8. Review.

PMID:
27491216
7.

Juvenile NCL (CLN3 Disease): Emerging Disease-Modifying Therapeutic Strategies.

Augustine EF, Mink JW.

Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:655-62. Review.

PMID:
27491213
8.

Correlation Among Genotype, Phenotype, and Histology in Neuronal Ceroid Lipofuscinoses: An Individual Patient Data Meta-Analysis.

Aungaroon G, Hallinan B, Jain P, Horn PS, Spaeth C, Arya R.

Pediatr Neurol. 2016 Jul;60:42-48.e4. doi: 10.1016/j.pediatrneurol.2016.03.018. Epub 2016 Apr 8. Review.

PMID:
27238410
9.

Impaired protein degradation in FTLD and related disorders.

Götzl JK, Lang CM, Haass C, Capell A.

Ageing Res Rev. 2016 Dec;32:122-139. doi: 10.1016/j.arr.2016.04.008. Epub 2016 May 7. Review.

PMID:
27166223
10.

Lysosomal cathepsins and their regulation in aging and neurodegeneration.

Stoka V, Turk V, Turk B.

Ageing Res Rev. 2016 Dec;32:22-37. doi: 10.1016/j.arr.2016.04.010. Epub 2016 Apr 26. Review.

11.

Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis.

Geraets RD, Koh Sy, Hastings ML, Kielian T, Pearce DA, Weimer JM.

Orphanet J Rare Dis. 2016 Apr 16;11:40. doi: 10.1186/s13023-016-0414-2. Review.

12.

Hereditary Parkinsonism-Associated Genetic Variations in PARK9 Locus Lead to Functional Impairment of ATPase Type 13A2.

Park JS, Sue CM.

Curr Protein Pept Sci. 2017;18(7):725-732. doi: 10.2174/1389203717666160311121534. Review.

PMID:
26965689
13.

Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease).

Ouseph MM, Kleinman ME, Wang QJ.

Ann N Y Acad Sci. 2016 May;1371(1):55-67. doi: 10.1111/nyas.12990. Epub 2016 Jan 8. Review.

14.

Gene Therapy for Rare Central Nervous System Diseases Comes to Age.

Aubourg P.

Endocr Dev. 2016;30:141-6. doi: 10.1159/000439339. Epub 2015 Dec 10. Review.

PMID:
26684481
15.

Progress in the Development of Small Molecule Therapeutics for the Treatment of Neuronal Ceroid Lipofuscinoses (NCLs).

Kinarivala N, Trippier PC.

J Med Chem. 2016 May 26;59(10):4415-27. doi: 10.1021/acs.jmedchem.5b01020. Epub 2015 Nov 24. Review.

16.

Progressive Myoclonus Epilepsies.

Kälviäinen R.

Semin Neurol. 2015 Jun;35(3):293-9. doi: 10.1055/s-0035-1552620. Epub 2015 Jun 10. Review.

PMID:
26060909
17.

Cysteine string protein (CSP) and its role in preventing neurodegeneration.

Burgoyne RD, Morgan A.

Semin Cell Dev Biol. 2015 Apr;40:153-9. doi: 10.1016/j.semcdb.2015.03.008. Epub 2015 Mar 21. Review.

18.

Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.

Yang X, Xu Y.

Biomed Res Int. 2014;2014:371256. doi: 10.1155/2014/371256. Epub 2014 Aug 14. Review.

19.

The progressive myoclonus epilepsies.

Minassian BA.

Prog Brain Res. 2014;213:113-22. doi: 10.1016/B978-0-444-63326-2.00006-5. Review.

PMID:
25194486
20.

Genetic convergence of Parkinson's disease and lysosomal storage disorders.

Deng H, Xiu X, Jankovic J.

Mol Neurobiol. 2015;51(3):1554-68. doi: 10.1007/s12035-014-8832-4. Epub 2014 Aug 7. Review.

PMID:
25099932

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