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Items: 1 to 20 of 256

2.

Neuronal ceroid lipofuscinoses.

Nita DA, Mole SE, Minassian BA.

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

PMID:
27629553
3.

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
4.

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
5.

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.

6.

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
7.

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
8.

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.

9.

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
10.

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
11.

Palmitoylation and depalmitoylation defects.

Hornemann T.

J Inherit Metab Dis. 2015 Jan;38(1):179-86. doi: 10.1007/s10545-014-9753-0. Epub 2014 Aug 5. Review.

PMID:
25091425
12.

Neurobehavioral features and natural history of juvenile neuronal ceroid lipofuscinosis (Batten disease).

Adams HR, Mink JW; University of Rochester Batten Center Study Group..

J Child Neurol. 2013 Sep;28(9):1128-36. doi: 10.1177/0883073813494813. Review.

13.

Lysosomal storage diseases--the horizon expands.

Boustany RM.

Nat Rev Neurol. 2013 Oct;9(10):583-98. doi: 10.1038/nrneurol.2013.163. Epub 2013 Aug 13. Review.

PMID:
23938739
14.

Classification and natural history of the neuronal ceroid lipofuscinoses.

Mink JW, Augustine EF, Adams HR, Marshall FJ, Kwon JM.

J Child Neurol. 2013 Sep;28(9):1101-5. doi: 10.1177/0883073813494268. Epub 2013 Jul 9. Review.

15.

Neuroimaging of lipid storage disorders.

Rieger D, Auerbach S, Robinson P, Gropman A.

Dev Disabil Res Rev. 2013;17(3):269-82. doi: 10.1002/ddrr.1120. Review.

PMID:
23798015
16.

The neuronal ceroid-lipofuscinoses.

Bennett MJ, Rakheja D.

Dev Disabil Res Rev. 2013;17(3):254-9. doi: 10.1002/ddrr.1118. Review.

PMID:
23798013
17.

Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.

Cotman SL, Karaa A, Staropoli JF, Sims KB.

Curr Neurol Neurosci Rep. 2013 Aug;13(8):366. doi: 10.1007/s11910-013-0366-z. Review.

18.

Pathogenesis and therapies for infantile neuronal ceroid lipofuscinosis (infantile CLN1 disease).

Hawkins-Salsbury JA, Cooper JD, Sands MS.

Biochim Biophys Acta. 2013 Nov;1832(11):1906-9. doi: 10.1016/j.bbadis.2013.05.026. Epub 2013 Jun 6. Review.

19.

Oxidative stress and neurodegeneration: the yeast model system.

Breitenbach M, Ralser M, Perrone GG, Iglseder B, Rinnerthaler M, Dawes IW.

Front Biosci (Landmark Ed). 2013 Jun 1;18:1174-93. Review.

PMID:
23747875
20.

NCL disease mechanisms.

Palmer DN, Barry LA, Tyynelä J, Cooper JD.

Biochim Biophys Acta. 2013 Nov;1832(11):1882-93. doi: 10.1016/j.bbadis.2013.05.014. Epub 2013 May 23. Review.

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