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Items: 1 to 20 of 25

1.

Another disorder finds its gene.

Ramirez-Montealegre D, Rothberg PG, Pearce DA.

Brain. 2006 Jun;129(Pt 6):1353-6. Review. No abstract available.

2.

Cathepsin D deficiency and NCL/Batten disease: there's more to death than apoptosis.

Shacka JJ, Roth KA.

Autophagy. 2007 Sep-Oct;3(5):474-6. Epub 2007 Apr 25. Review.

PMID:
17495518
3.

Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia.

Al-Muhaizea MA, Al-Hassnan ZN, Chedrawi A.

Pediatr Neurol. 2009 Jul;41(1):74-6. doi: 10.1016/j.pediatrneurol.2009.01.012. Review.

PMID:
19520283
4.

Genetic counseling in the neuronal ceroid lipofuscinoses.

Brooks SS.

Adv Genet. 2001;45:159-67. Review. No abstract available.

PMID:
11332771
5.

The new nosography of the neuronal ceroid-lipofuscinoses.

Goebel HH.

Ann Pathol. 2000 Oct;20(5):479-91. Review. No abstract available.

PMID:
11084415
6.

Towards understanding the neuronal ceroid lipofuscinoses.

Kohlschütter A, Schulz A.

Brain Dev. 2009 Aug;31(7):499-502. doi: 10.1016/j.braindev.2008.12.008. Epub 2009 Feb 4. Review.

PMID:
19195801
7.

Neuronal ceroid lipofuscinoses.

Mole S.

Eur J Paediatr Neurol. 1999;3(1):43-4. Review. No abstract available.

PMID:
10727192
8.

Prenatal diagnosis of the neuronal ceroid lipofuscinoses.

Kleijer WJ, van Diggelen OP.

Prenat Diagn. 2000 Oct;20(10):819-21. Review. No abstract available.

PMID:
11038460
9.

Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update.

Rakheja D, Narayan SB, Bennett MJ.

Curr Mol Med. 2007 Sep;7(6):603-8. Review.

PMID:
17896996
10.

Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins.

Kyttälä A, Lahtinen U, Braulke T, Hofmann SL.

Biochim Biophys Acta. 2006 Oct;1762(10):920-33. Epub 2006 Jun 3. Review.

11.

Neuronal ceroid lipofuscinoses therapeutic strategies: past, present and future.

Hobert JA, Dawson G.

Biochim Biophys Acta. 2006 Oct;1762(10):945-53. Epub 2006 Aug 16. Review.

12.

Diagnosis of the neuronal ceroid lipofuscinoses: an update.

Williams RE, Aberg L, Autti T, Goebel HH, Kohlschütter A, Lönnqvist T.

Biochim Biophys Acta. 2006 Oct;1762(10):865-72. Epub 2006 Jul 12. Review.

13.

Molecular genetics of the NCLs -- status and perspectives.

Siintola E, Lehesjoki AE, Mole SE.

Biochim Biophys Acta. 2006 Oct;1762(10):857-64. Epub 2006 May 27. Review.

14.

On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies.

Lohi H, Chan EM, Scherer SW, Minassian BA.

Adv Neurol. 2006;97:399-415. Review. No abstract available.

PMID:
16383151
15.

The neuronal ceroid-lipofuscinoses: from past to present.

Haltia M.

Biochim Biophys Acta. 2006 Oct;1762(10):850-6. Epub 2006 Jul 8. Review.

16.

[Santavuori disease(muscle-eye-brain disease)].

Hayashi YK.

Ryoikibetsu Shokogun Shirizu. 2001;(35):109-10. Review. Japanese. No abstract available.

PMID:
11555883
17.

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. Epub 2006 Aug 10. Review.

18.

[Neuronal ceroid lipofuscinoses].

Augestad LB, Diderichsen J.

Tidsskr Nor Laegeforen. 2006 Aug 10;126(15):1908-10. Review. Norwegian.

19.

The autosomal recessively inherited progressive myoclonus epilepsies and their genes.

Ramachandran N, Girard JM, Turnbull J, Minassian BA.

Epilepsia. 2009 May;50 Suppl 5:29-36. doi: 10.1111/j.1528-1167.2009.02117.x. Review.

20.

[Tripeptidyl-peptidase I--distribution, biogenesis, and mechanisms of activation].

Gołabek AA.

Postepy Biochem. 2006;52(1):16-23. Review. Polish.

PMID:
16869297
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