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Results: 1 to 20 of 90

Similar articles for PubMed (Select 16738059)

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 underlies congenital human neuronal ceroid-lipofuscinosis.

Siintola E, Partanen S, Strömme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynelä J.

Brain. 2006 Jun;129(Pt 6):1438-45. Epub 2006 May 2.

3.

Cathepsin D-deficient Drosophila recapitulate the key features of neuronal ceroid lipofuscinoses.

Myllykangas L, Tyynelä J, Page-McCaw A, Rubin GM, Haltia MJ, Feany MB.

Neurobiol Dis. 2005 Jun-Jul;19(1-2):194-9.

PMID:
15837574
4.

Congenital ovine neuronal ceroid lipofuscinosis--a cathepsin D deficiency with increased levels of the inactive enzyme.

Tyynelä J, Sohar I, Sleat DE, Gin RM, Donnelly RJ, Baumann M, Haltia M, Lobel P.

Eur J Paediatr Neurol. 2001;5 Suppl A:43-5.

PMID:
11589006
5.

Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).

Fritchie K, Siintola E, Armao D, Lehesjoki AE, Marino T, Powell C, Tennison M, Booker JM, Koch S, Partanen S, Suzuki K, Tyynelä J, Thorne LB.

Acta Neuropathol. 2009 Feb;117(2):201-8. doi: 10.1007/s00401-008-0426-7. Epub 2008 Sep 2.

PMID:
18762956
6.

Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology.

Hersheson J, Burke D, Clayton R, Anderson G, Jacques TS, Mills P, Wood NW, Gissen P, Clayton P, Fearnley J, Mole SE, Houlden H.

Neurology. 2014 Nov 11;83(20):1873-5. doi: 10.1212/WNL.0000000000000981. Epub 2014 Oct 8. No abstract available.

7.

A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration.

Tyynelä J, Sohar I, Sleat DE, Gin RM, Donnelly RJ, Baumann M, Haltia M, Lobel P.

EMBO J. 2000 Jun 15;19(12):2786-92.

8.

Genetic modifiers of degeneration in the cathepsin D deficient Drosophila model for neuronal ceroid lipofuscinosis.

Kuronen M, Talvitie M, Lehesjoki AE, Myllykangas L.

Neurobiol Dis. 2009 Dec;36(3):488-93. doi: 10.1016/j.nbd.2009.09.001. Epub 2009 Sep 15.

PMID:
19761846
9.

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.

10.

A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis.

Awano T, Katz ML, O'Brien DP, Taylor JF, Evans J, Khan S, Sohar I, Lobel P, Johnson GS.

Mol Genet Metab. 2006 Apr;87(4):341-8. Epub 2006 Jan 4.

PMID:
16386934
11.

The canine CTSD gene as a candidate for late-onset neuronal ceroid lipofuscinosis.

Wöhlke A, Distl O, Drögemüller C.

Anim Genet. 2005 Dec;36(6):530-2. No abstract available.

PMID:
16293139
12.

Synaptic changes in the thalamocortical system of cathepsin D-deficient mice: a model of human congenital neuronal ceroid-lipofuscinosis.

Partanen S, Haapanen A, Kielar C, Pontikis C, Alexander N, Inkinen T, Saftig P, Gillingwater TH, Cooper JD, Tyynelä J.

J Neuropathol Exp Neurol. 2008 Jan;67(1):16-29.

PMID:
18091563
13.

Workshop on the genetic and molecular basis of the neuronal ceroid lipofuscinoses. London, UK, 13-16 November 1997. Report and abstracts.

Mole SE, Gardiner RM, Goebel HH.

Eur J Paediatr Neurol. 1998;2(2):A1-17. No abstract available.

PMID:
10724106
14.

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
15.

Genetic counseling in the neuronal ceroid lipofuscinoses.

Brooks SS.

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

PMID:
11332771
16.

Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile.

Cismondi IA, Kohan R, Ghio A, Ramirez AM, Halac IN.

Hum Genet. 2008 Oct;124(3):323-4. No abstract available.

PMID:
18846689
17.

Gene table: neuronal ceroid lipofuscinoses.

Mole S.

Eur J Paediatr Neurol. 2002;6(2):129-30. No abstract available.

PMID:
11995961
18.

Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs.

Goldberg-Stern H, Halevi A, Marom D, Straussberg R, Mimouni-Bloch A.

Pediatr Neurol. 2009 Oct;41(4):297-300. doi: 10.1016/j.pediatrneurol.2009.04.022.

PMID:
19748052
19.

Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile.

Cismondi IA, Kohan R, Ghio A, Ramirez AM, Halac IN.

Hum Genet. 2008 Oct;124(3):324. No abstract available.

PMID:
18846690
20.

The new nosography of the neuronal ceroid-lipofuscinoses.

Goebel HH.

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

PMID:
11084415
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