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Results: 1 to 20 of 63

1.

Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function.

Chandrachud U, Walker MW, Simas AM, Heetveld S, Petcherski A, Klein M, Oh H, Wolf P, Zhao WN, Norton S, Haggarty SJ, Lloyd-Evans E, Cotman SL.

J Biol Chem. 2015 Jun 5;290(23):14361-80. doi: 10.1074/jbc.M114.621706. Epub 2015 Apr 15.

PMID:
25878248
2.

Ethical issues with artificial nutrition of children with degenerative brain diseases.

Kohlschütter A, Riga C, Crespo D, Torres JM, Penchaszadeh V, Schulz A.

Biochim Biophys Acta. 2015 Jul;1852(7):1253-6. doi: 10.1016/j.bbadis.2015.03.007. Epub 2015 Mar 17.

PMID:
25795594
3.

Translational neurophysiology in sheep: measuring sleep and neurological dysfunction in CLN5 Batten disease affected sheep.

Perentos N, Martins AQ, Watson TC, Bartsch U, Mitchell NL, Palmer DN, Jones MW, Morton AJ.

Brain. 2015 Apr;138(Pt 4):862-74. doi: 10.1093/brain/awv026. Epub 2015 Feb 26.

4.

Juvenile neuronal ceroid lipofuscinoses (CLN3 Batten disease): what kind of epilepsy?

Williams R.

Dev Med Child Neurol. 2015 Apr;57(4):312. doi: 10.1111/dmcn.12673. Epub 2014 Dec 18. No abstract available.

PMID:
25523638
5.

Standardized assessment of seizures in patients with juvenile neuronal ceroid lipofuscinosis.

Augustine EF, Adams HR, Beck CA, Vierhile A, Kwon J, Rothberg PG, Marshall F, Block R, Dolan J, Mink JW; Batten Study Group.

Dev Med Child Neurol. 2015 Apr;57(4):366-71. doi: 10.1111/dmcn.12634. Epub 2014 Nov 11.

PMID:
25387857
6.

Cataract and glaucoma development in juvenile neuronal ceroid lipofuscinosis (batten disease).

Nielsen AK, Drack AV, Ostergaard JR.

Ophthalmic Genet. 2015 Mar;36(1):39-42. doi: 10.3109/13816810.2014.977492. Epub 2014 Nov 3.

PMID:
25365415
8.

Astrocytosis in infantile neuronal ceroid lipofuscinosis: friend or foe?

Shyng C, Sands MS.

Biochem Soc Trans. 2014 Oct;42(5):1282-5. doi: 10.1042/BST20140188.

PMID:
25233404
9.

The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy.

Miller JN, Kovács AD, Pearce DA.

Hum Mol Genet. 2015 Jan 1;24(1):185-96. doi: 10.1093/hmg/ddu428. Epub 2014 Sep 8.

PMID:
25205113
10.

Development of new treatments for Batten disease.

Mole SE.

Lancet Neurol. 2014 Aug;13(8):749-51. doi: 10.1016/S1474-4422(14)70151-6. Epub 2014 Jul 2. No abstract available.

PMID:
24997881
11.

Enzyme replacement therapy attenuates disease progression in a canine model of late-infantile neuronal ceroid lipofuscinosis (CLN2 disease).

Katz ML, Coates JR, Sibigtroth CM, Taylor JD, Carpentier M, Young WM, Wininger FA, Kennedy D, Vuillemenot BR, O'Neill CA.

J Neurosci Res. 2014 Nov;92(11):1591-8. doi: 10.1002/jnr.23423. Epub 2014 Jun 17.

12.

Valproate-induced hyperammonemia in juvenile ceroid lipofuscinosis (Batten disease).

Larsen EP, Ostergaard JR.

Seizure. 2014 Jun;23(6):429-34. doi: 10.1016/j.seizure.2014.02.011. Epub 2014 Feb 28.

PMID:
24647346
13.

Altered levels of α-synuclein and sphingolipids in Batten disease lymphoblast cells.

Kang S, Heo TH, Kim SJ.

Gene. 2014 Apr 15;539(2):181-5. doi: 10.1016/j.gene.2014.02.017. Epub 2014 Feb 15.

PMID:
24534465
14.

Hippocampal volumes in juvenile neuronal ceroid lipofuscinosis: a longitudinal magnetic resonance imaging study.

Tokola AM, Salli EK, Åberg LE, Autti TH.

Pediatr Neurol. 2014 Feb;50(2):158-63. doi: 10.1016/j.pediatrneurol.2013.10.013. Epub 2013 Oct 30.

PMID:
24411222
15.

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.

Lojewski X, Staropoli JF, Biswas-Legrand S, Simas AM, Haliw L, Selig MK, Coppel SH, Goss KA, Petcherski A, Chandrachud U, Sheridan SD, Lucente D, Sims KB, Gusella JF, Sondhi D, Crystal RG, Reinhardt P, Sterneckert J, Schöler H, Haggarty SJ, Storch A, Hermann A, Cotman SL.

Hum Mol Genet. 2014 Apr 15;23(8):2005-22. doi: 10.1093/hmg/ddt596. Epub 2013 Nov 23.

16.

Inhibition of storage pathology in prenatal CLN5-deficient sheep neural cultures by lentiviral gene therapy.

Hughes SM, Hope KM, Xu JB, Mitchell NL, Palmer DN.

Neurobiol Dis. 2014 Feb;62:543-50. doi: 10.1016/j.nbd.2013.11.011. Epub 2013 Nov 19.

PMID:
24269732
17.

Experience, knowledge, and opinions about childhood genetic testing in Batten disease.

Adams HR, Rose K, Augustine EF, Kwon JM, deBlieck EA, Marshall FJ, Vierhile A, Mink JW, Nance MA.

Mol Genet Metab. 2014 Feb;111(2):197-202. doi: 10.1016/j.ymgme.2013.10.017. Epub 2013 Nov 4.

18.

A murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human disease.

Morgan JP, Magee H, Wong A, Nelson T, Koch B, Cooper JD, Weimer JM.

PLoS One. 2013 Nov 1;8(11):e78694. doi: 10.1371/journal.pone.0078694. eCollection 2013.

19.

Considerations for the treatment of infantile neuronal ceroid lipofuscinosis (infantile Batten disease).

Sands MS.

J Child Neurol. 2013 Sep;28(9):1151-8. doi: 10.1177/0883073813495960.

20.

Clinical trials in rare disease: challenges and opportunities.

Augustine EF, Adams HR, Mink JW.

J Child Neurol. 2013 Sep;28(9):1142-50. doi: 10.1177/0883073813495959.

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